Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Iacovazzo, Donato [verfasserIn] Caswell, Richard Bunce, Benjamin Jose, Sian Yuan, Bo Hernández-Ramírez, Laura C. Kapur, Sonal Caimari, Francisca Evanson, Jane Ferraù, Francesco Dang, Mary N. Gabrovska, Plamena Larkin, Sarah J. Ansorge, Olaf Rodd, Celia Vance, Mary L. Ramírez-Renteria, Claudia Mercado, Moisés Goldstone, Anthony P. Buchfelder, Michael Burren, Christine P. Gurlek, Alper Dutta, Pinaki Choong, Catherine S. Cheetham, Timothy Trivellin, Giampaolo Stratakis, Constantine A. Lopes, Maria-Beatriz Grossman, Ashley B. Trouillas, Jacqueline Lupski, James R. Ellard, Sian Sampson, Julian R. Roncaroli, Federico Korbonits, Márta

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2016

Schlagwörter:	XLAG Gigantism GPR101 CNV mutation Pituitary

Anmerkung:	© The Author(s). 2016

Übergeordnetes Werk:	Enthalten in: Acta Neuropathologica Communications - London : Biomed Central, 2013, 4(2016), 1 vom: 01. Juni
Übergeordnetes Werk:	volume:4 ; year:2016 ; number:1 ; day:01 ; month:06

Links:	Volltext

DOI / URN:	10.1186/s40478-016-0328-1

Katalog-ID:	SPR036510874

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100	1		\|a Iacovazzo, Donato \|e verfasserin \|4 aut
245	1	0	\|a Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
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520			\|a Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing.
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700	1		\|a Buchfelder, Michael \|4 aut
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allfields	10.1186/s40478-016-0328-1 doi (DE-627)SPR036510874 (SPR)s40478-016-0328-1-e DE-627 ger DE-627 rakwb eng Iacovazzo, Donato verfasserin aut Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. XLAG (dpeaa)DE-He213 Gigantism (dpeaa)DE-He213 GPR101 (dpeaa)DE-He213 CNV mutation (dpeaa)DE-He213 Pituitary (dpeaa)DE-He213 Caswell, Richard aut Bunce, Benjamin aut Jose, Sian aut Yuan, Bo aut Hernández-Ramírez, Laura C. aut Kapur, Sonal aut Caimari, Francisca aut Evanson, Jane aut Ferraù, Francesco aut Dang, Mary N. aut Gabrovska, Plamena aut Larkin, Sarah J. aut Ansorge, Olaf aut Rodd, Celia aut Vance, Mary L. aut Ramírez-Renteria, Claudia aut Mercado, Moisés aut Goldstone, Anthony P. aut Buchfelder, Michael aut Burren, Christine P. aut Gurlek, Alper aut Dutta, Pinaki aut Choong, Catherine S. aut Cheetham, Timothy aut Trivellin, Giampaolo aut Stratakis, Constantine A. aut Lopes, Maria-Beatriz aut Grossman, Ashley B. aut Trouillas, Jacqueline aut Lupski, James R. aut Ellard, Sian aut Sampson, Julian R. aut Roncaroli, Federico aut Korbonits, Márta aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 4(2016), 1 vom: 01. Juni (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:4 year:2016 number:1 day:01 month:06 https://dx.doi.org/10.1186/s40478-016-0328-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2016 1 01 06
spelling	10.1186/s40478-016-0328-1 doi (DE-627)SPR036510874 (SPR)s40478-016-0328-1-e DE-627 ger DE-627 rakwb eng Iacovazzo, Donato verfasserin aut Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. XLAG (dpeaa)DE-He213 Gigantism (dpeaa)DE-He213 GPR101 (dpeaa)DE-He213 CNV mutation (dpeaa)DE-He213 Pituitary (dpeaa)DE-He213 Caswell, Richard aut Bunce, Benjamin aut Jose, Sian aut Yuan, Bo aut Hernández-Ramírez, Laura C. aut Kapur, Sonal aut Caimari, Francisca aut Evanson, Jane aut Ferraù, Francesco aut Dang, Mary N. aut Gabrovska, Plamena aut Larkin, Sarah J. aut Ansorge, Olaf aut Rodd, Celia aut Vance, Mary L. aut Ramírez-Renteria, Claudia aut Mercado, Moisés aut Goldstone, Anthony P. aut Buchfelder, Michael aut Burren, Christine P. aut Gurlek, Alper aut Dutta, Pinaki aut Choong, Catherine S. aut Cheetham, Timothy aut Trivellin, Giampaolo aut Stratakis, Constantine A. aut Lopes, Maria-Beatriz aut Grossman, Ashley B. aut Trouillas, Jacqueline aut Lupski, James R. aut Ellard, Sian aut Sampson, Julian R. aut Roncaroli, Federico aut Korbonits, Márta aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 4(2016), 1 vom: 01. Juni (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:4 year:2016 number:1 day:01 month:06 https://dx.doi.org/10.1186/s40478-016-0328-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2016 1 01 06
allfields_unstemmed	10.1186/s40478-016-0328-1 doi (DE-627)SPR036510874 (SPR)s40478-016-0328-1-e DE-627 ger DE-627 rakwb eng Iacovazzo, Donato verfasserin aut Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. XLAG (dpeaa)DE-He213 Gigantism (dpeaa)DE-He213 GPR101 (dpeaa)DE-He213 CNV mutation (dpeaa)DE-He213 Pituitary (dpeaa)DE-He213 Caswell, Richard aut Bunce, Benjamin aut Jose, Sian aut Yuan, Bo aut Hernández-Ramírez, Laura C. aut Kapur, Sonal aut Caimari, Francisca aut Evanson, Jane aut Ferraù, Francesco aut Dang, Mary N. aut Gabrovska, Plamena aut Larkin, Sarah J. aut Ansorge, Olaf aut Rodd, Celia aut Vance, Mary L. aut Ramírez-Renteria, Claudia aut Mercado, Moisés aut Goldstone, Anthony P. aut Buchfelder, Michael aut Burren, Christine P. aut Gurlek, Alper aut Dutta, Pinaki aut Choong, Catherine S. aut Cheetham, Timothy aut Trivellin, Giampaolo aut Stratakis, Constantine A. aut Lopes, Maria-Beatriz aut Grossman, Ashley B. aut Trouillas, Jacqueline aut Lupski, James R. aut Ellard, Sian aut Sampson, Julian R. aut Roncaroli, Federico aut Korbonits, Márta aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 4(2016), 1 vom: 01. Juni (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:4 year:2016 number:1 day:01 month:06 https://dx.doi.org/10.1186/s40478-016-0328-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2016 1 01 06
allfieldsGer	10.1186/s40478-016-0328-1 doi (DE-627)SPR036510874 (SPR)s40478-016-0328-1-e DE-627 ger DE-627 rakwb eng Iacovazzo, Donato verfasserin aut Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. XLAG (dpeaa)DE-He213 Gigantism (dpeaa)DE-He213 GPR101 (dpeaa)DE-He213 CNV mutation (dpeaa)DE-He213 Pituitary (dpeaa)DE-He213 Caswell, Richard aut Bunce, Benjamin aut Jose, Sian aut Yuan, Bo aut Hernández-Ramírez, Laura C. aut Kapur, Sonal aut Caimari, Francisca aut Evanson, Jane aut Ferraù, Francesco aut Dang, Mary N. aut Gabrovska, Plamena aut Larkin, Sarah J. aut Ansorge, Olaf aut Rodd, Celia aut Vance, Mary L. aut Ramírez-Renteria, Claudia aut Mercado, Moisés aut Goldstone, Anthony P. aut Buchfelder, Michael aut Burren, Christine P. aut Gurlek, Alper aut Dutta, Pinaki aut Choong, Catherine S. aut Cheetham, Timothy aut Trivellin, Giampaolo aut Stratakis, Constantine A. aut Lopes, Maria-Beatriz aut Grossman, Ashley B. aut Trouillas, Jacqueline aut Lupski, James R. aut Ellard, Sian aut Sampson, Julian R. aut Roncaroli, Federico aut Korbonits, Márta aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 4(2016), 1 vom: 01. Juni (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:4 year:2016 number:1 day:01 month:06 https://dx.doi.org/10.1186/s40478-016-0328-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2016 1 01 06
allfieldsSound	10.1186/s40478-016-0328-1 doi (DE-627)SPR036510874 (SPR)s40478-016-0328-1-e DE-627 ger DE-627 rakwb eng Iacovazzo, Donato verfasserin aut Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2016 Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. XLAG (dpeaa)DE-He213 Gigantism (dpeaa)DE-He213 GPR101 (dpeaa)DE-He213 CNV mutation (dpeaa)DE-He213 Pituitary (dpeaa)DE-He213 Caswell, Richard aut Bunce, Benjamin aut Jose, Sian aut Yuan, Bo aut Hernández-Ramírez, Laura C. aut Kapur, Sonal aut Caimari, Francisca aut Evanson, Jane aut Ferraù, Francesco aut Dang, Mary N. aut Gabrovska, Plamena aut Larkin, Sarah J. aut Ansorge, Olaf aut Rodd, Celia aut Vance, Mary L. aut Ramírez-Renteria, Claudia aut Mercado, Moisés aut Goldstone, Anthony P. aut Buchfelder, Michael aut Burren, Christine P. aut Gurlek, Alper aut Dutta, Pinaki aut Choong, Catherine S. aut Cheetham, Timothy aut Trivellin, Giampaolo aut Stratakis, Constantine A. aut Lopes, Maria-Beatriz aut Grossman, Ashley B. aut Trouillas, Jacqueline aut Lupski, James R. aut Ellard, Sian aut Sampson, Julian R. aut Roncaroli, Federico aut Korbonits, Márta aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 4(2016), 1 vom: 01. Juni (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:4 year:2016 number:1 day:01 month:06 https://dx.doi.org/10.1186/s40478-016-0328-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 4 2016 1 01 06
language	English
source	Enthalten in Acta Neuropathologica Communications 4(2016), 1 vom: 01. Juni volume:4 year:2016 number:1 day:01 month:06
sourceStr	Enthalten in Acta Neuropathologica Communications 4(2016), 1 vom: 01. Juni volume:4 year:2016 number:1 day:01 month:06
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	XLAG Gigantism GPR101 CNV mutation Pituitary
isfreeaccess_bool	true
container_title	Acta Neuropathologica Communications
authorswithroles_txt_mv	Iacovazzo, Donato @@aut@@ Caswell, Richard @@aut@@ Bunce, Benjamin @@aut@@ Jose, Sian @@aut@@ Yuan, Bo @@aut@@ Hernández-Ramírez, Laura C. @@aut@@ Kapur, Sonal @@aut@@ Caimari, Francisca @@aut@@ Evanson, Jane @@aut@@ Ferraù, Francesco @@aut@@ Dang, Mary N. @@aut@@ Gabrovska, Plamena @@aut@@ Larkin, Sarah J. @@aut@@ Ansorge, Olaf @@aut@@ Rodd, Celia @@aut@@ Vance, Mary L. @@aut@@ Ramírez-Renteria, Claudia @@aut@@ Mercado, Moisés @@aut@@ Goldstone, Anthony P. @@aut@@ Buchfelder, Michael @@aut@@ Burren, Christine P. @@aut@@ Gurlek, Alper @@aut@@ Dutta, Pinaki @@aut@@ Choong, Catherine S. @@aut@@ Cheetham, Timothy @@aut@@ Trivellin, Giampaolo @@aut@@ Stratakis, Constantine A. @@aut@@ Lopes, Maria-Beatriz @@aut@@ Grossman, Ashley B. @@aut@@ Trouillas, Jacqueline @@aut@@ Lupski, James R. @@aut@@ Ellard, Sian @@aut@@ Sampson, Julian R. @@aut@@ Roncaroli, Federico @@aut@@ Korbonits, Márta @@aut@@
publishDateDaySort_date	2016-06-01T00:00:00Z
hierarchy_top_id	746066465
id	SPR036510874
language_de	englisch
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Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. 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author	Iacovazzo, Donato
spellingShingle	Iacovazzo, Donato misc XLAG misc Gigantism misc GPR101 misc CNV mutation misc Pituitary Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
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topic_title	Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study XLAG (dpeaa)DE-He213 Gigantism (dpeaa)DE-He213 GPR101 (dpeaa)DE-He213 CNV mutation (dpeaa)DE-He213 Pituitary (dpeaa)DE-He213
topic	misc XLAG misc Gigantism misc GPR101 misc CNV mutation misc Pituitary
topic_unstemmed	misc XLAG misc Gigantism misc GPR101 misc CNV mutation misc Pituitary
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title	Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
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title_full	Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
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author_browse	Iacovazzo, Donato Caswell, Richard Bunce, Benjamin Jose, Sian Yuan, Bo Hernández-Ramírez, Laura C. Kapur, Sonal Caimari, Francisca Evanson, Jane Ferraù, Francesco Dang, Mary N. Gabrovska, Plamena Larkin, Sarah J. Ansorge, Olaf Rodd, Celia Vance, Mary L. Ramírez-Renteria, Claudia Mercado, Moisés Goldstone, Anthony P. Buchfelder, Michael Burren, Christine P. Gurlek, Alper Dutta, Pinaki Choong, Catherine S. Cheetham, Timothy Trivellin, Giampaolo Stratakis, Constantine A. Lopes, Maria-Beatriz Grossman, Ashley B. Trouillas, Jacqueline Lupski, James R. Ellard, Sian Sampson, Julian R. Roncaroli, Federico Korbonits, Márta
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title_sort	germline or somatic gpr101 duplication leads to x-linked acrogigantism: a clinico-pathological and genetic study
title_auth	Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
abstract	Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. © The Author(s). 2016
abstractGer	Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. © The Author(s). 2016
abstract_unstemmed	Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. The pathological features of XLAG-associated pituitary adenomas are typical and, together with the clinical phenotype, should prompt genetic testing. © The Author(s). 2016
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title_short	Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study
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fullrecord_marcxml	<?xml version="1.0" encoding="UTF-8"?><collection xmlns="http://www.loc.gov/MARC21/slim"><record><leader>01000caa a22002652 4500</leader><controlfield tag="001">SPR036510874</controlfield><controlfield tag="003">DE-627</controlfield><controlfield tag="005">20230519195019.0</controlfield><controlfield tag="007">cr uuu---uuuuu</controlfield><controlfield tag="008">201007s2016 xx \|\|\|\|\|o 00\| \|\|eng c</controlfield><datafield tag="024" ind1="7" ind2=" "><subfield code="a">10.1186/s40478-016-0328-1</subfield><subfield code="2">doi</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(DE-627)SPR036510874</subfield></datafield><datafield tag="035" ind1=" " ind2=" "><subfield code="a">(SPR)s40478-016-0328-1-e</subfield></datafield><datafield tag="040" ind1=" " ind2=" "><subfield code="a">DE-627</subfield><subfield code="b">ger</subfield><subfield code="c">DE-627</subfield><subfield code="e">rakwb</subfield></datafield><datafield tag="041" ind1=" " ind2=" "><subfield code="a">eng</subfield></datafield><datafield tag="100" ind1="1" ind2=" "><subfield code="a">Iacovazzo, Donato</subfield><subfield code="e">verfasserin</subfield><subfield code="4">aut</subfield></datafield><datafield tag="245" ind1="1" ind2="0"><subfield code="a">Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study</subfield></datafield><datafield tag="264" ind1=" " ind2="1"><subfield code="c">2016</subfield></datafield><datafield tag="336" ind1=" " ind2=" "><subfield code="a">Text</subfield><subfield code="b">txt</subfield><subfield code="2">rdacontent</subfield></datafield><datafield tag="337" ind1=" " ind2=" "><subfield code="a">Computermedien</subfield><subfield code="b">c</subfield><subfield code="2">rdamedia</subfield></datafield><datafield tag="338" ind1=" " ind2=" "><subfield code="a">Online-Ressource</subfield><subfield code="b">cr</subfield><subfield code="2">rdacarrier</subfield></datafield><datafield tag="500" ind1=" " ind2=" "><subfield code="a">© The Author(s). 2016</subfield></datafield><datafield tag="520" ind1=" " ind2=" "><subfield code="a">Abstract Non-syndromic pituitary gigantism can result from AIP mutations or the recently identified Xq26.3 microduplication causing X-linked acrogigantism (XLAG). Within Xq26.3, GPR101 is believed to be the causative gene, and the c.924G > C (p.E308D) variant in this orphan G protein-coupled receptor has been suggested to play a role in the pathogenesis of acromegaly. We studied 153 patients (58 females and 95 males) with pituitary gigantism. AIP mutation-negative cases were screened for GPR101 duplication through copy number variation droplet digital PCR and high-density aCGH. The genetic, clinical and histopathological features of XLAG patients were studied in detail. 395 peripheral blood and 193 pituitary tumor DNA samples from acromegaly patients were tested for GPR101 variants. We identified 12 patients (10 females and 2 males; 7.8 %) with XLAG. In one subject, the duplicated region only contained GPR101, but not the other three genes found to be duplicated in the previously reported patients, defining a new smallest region of overlap of duplications. While females presented with germline mutations, the two male patients harbored the mutation in a mosaic state. Nine patients had pituitary adenomas, while three had hyperplasia. The comparison of the features of XLAG, AIP-positive and GPR101&AIP-negative patients revealed significant differences in sex distribution, age at onset, height, prolactin co-secretion and histological features. The pathological features of XLAG-related adenomas were remarkably similar. These tumors had a sinusoidal and lobular architecture. Sparsely and densely granulated somatotrophs were admixed with lactotrophs; follicle-like structures and calcifications were commonly observed. Patients with sporadic or familial acromegaly did not have an increased prevalence of the c.924G > C (p.E308D) GPR101 variant compared to public databases. In conclusion, XLAG can result from germline or somatic duplication of GPR101. Duplication of GPR101 alone is sufficient for the development of XLAG, implicating it as the causative gene within the Xq26.3 region. 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Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study

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