Multiple endocrine neoplasias type 2B and RET proto-oncogene

<p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid...
Ausführliche Beschreibung

Gespeichert in:

Autor*in:	Martucciello Giuseppe [verfasserIn] Lerone Margherita [verfasserIn] Bricco Lara [verfasserIn] Tonini Gian [verfasserIn] Lombardi Laura [verfasserIn] Del Rossi Carmine G [verfasserIn] Bernasconi Sergio [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2012

Schlagwörter:	Neurocristopathies Neural Crest Cells Cancer MEN 2B Multiple Endocrine Neoplasia Medullary Thyroid Carcinoma RET proto-oncogene Thyroidectomy Neuroblastoma Hirschsprung's disease

Übergeordnetes Werk:	In: Italian Journal of Pediatrics - BMC, 2004, 38(2012), 1, p 9
Übergeordnetes Werk:	volume:38 ; year:2012 ; number:1, p 9

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.1186/1824-7288-38-9

Katalog-ID:	DOAJ064218538

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spelling	10.1186/1824-7288-38-9 doi (DE-627)DOAJ064218538 (DE-599)DOAJ5ccfa3b23d7b4529934cb13294161e03 DE-627 ger DE-627 rakwb eng RJ1-570 Martucciello Giuseppe verfasserin aut Multiple endocrine neoplasias type 2B and RET proto-oncogene 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.</p< Neurocristopathies Neural Crest Cells Cancer MEN 2B Multiple Endocrine Neoplasia Medullary Thyroid Carcinoma RET proto-oncogene Thyroidectomy Neuroblastoma Hirschsprung's disease Pediatrics Lerone Margherita verfasserin aut Bricco Lara verfasserin aut Tonini Gian verfasserin aut Lombardi Laura verfasserin aut Del Rossi Carmine G verfasserin aut Bernasconi Sergio verfasserin aut In Italian Journal of Pediatrics BMC, 2004 38(2012), 1, p 9 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:38 year:2012 number:1, p 9 https://doi.org/10.1186/1824-7288-38-9 kostenfrei https://doaj.org/article/5ccfa3b23d7b4529934cb13294161e03 kostenfrei http://www.ijponline.net/content/38/1/9 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2014 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 38 2012 1, p 9
allfields_unstemmed	10.1186/1824-7288-38-9 doi (DE-627)DOAJ064218538 (DE-599)DOAJ5ccfa3b23d7b4529934cb13294161e03 DE-627 ger DE-627 rakwb eng RJ1-570 Martucciello Giuseppe verfasserin aut Multiple endocrine neoplasias type 2B and RET proto-oncogene 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.</p< Neurocristopathies Neural Crest Cells Cancer MEN 2B Multiple Endocrine Neoplasia Medullary Thyroid Carcinoma RET proto-oncogene Thyroidectomy Neuroblastoma Hirschsprung's disease Pediatrics Lerone Margherita verfasserin aut Bricco Lara verfasserin aut Tonini Gian verfasserin aut Lombardi Laura verfasserin aut Del Rossi Carmine G verfasserin aut Bernasconi Sergio verfasserin aut In Italian Journal of Pediatrics BMC, 2004 38(2012), 1, p 9 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:38 year:2012 number:1, p 9 https://doi.org/10.1186/1824-7288-38-9 kostenfrei https://doaj.org/article/5ccfa3b23d7b4529934cb13294161e03 kostenfrei http://www.ijponline.net/content/38/1/9 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2014 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 38 2012 1, p 9
allfieldsGer	10.1186/1824-7288-38-9 doi (DE-627)DOAJ064218538 (DE-599)DOAJ5ccfa3b23d7b4529934cb13294161e03 DE-627 ger DE-627 rakwb eng RJ1-570 Martucciello Giuseppe verfasserin aut Multiple endocrine neoplasias type 2B and RET proto-oncogene 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.</p< Neurocristopathies Neural Crest Cells Cancer MEN 2B Multiple Endocrine Neoplasia Medullary Thyroid Carcinoma RET proto-oncogene Thyroidectomy Neuroblastoma Hirschsprung's disease Pediatrics Lerone Margherita verfasserin aut Bricco Lara verfasserin aut Tonini Gian verfasserin aut Lombardi Laura verfasserin aut Del Rossi Carmine G verfasserin aut Bernasconi Sergio verfasserin aut In Italian Journal of Pediatrics BMC, 2004 38(2012), 1, p 9 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:38 year:2012 number:1, p 9 https://doi.org/10.1186/1824-7288-38-9 kostenfrei https://doaj.org/article/5ccfa3b23d7b4529934cb13294161e03 kostenfrei http://www.ijponline.net/content/38/1/9 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2014 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 38 2012 1, p 9
allfieldsSound	10.1186/1824-7288-38-9 doi (DE-627)DOAJ064218538 (DE-599)DOAJ5ccfa3b23d7b4529934cb13294161e03 DE-627 ger DE-627 rakwb eng RJ1-570 Martucciello Giuseppe verfasserin aut Multiple endocrine neoplasias type 2B and RET proto-oncogene 2012 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier <p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.</p< Neurocristopathies Neural Crest Cells Cancer MEN 2B Multiple Endocrine Neoplasia Medullary Thyroid Carcinoma RET proto-oncogene Thyroidectomy Neuroblastoma Hirschsprung's disease Pediatrics Lerone Margherita verfasserin aut Bricco Lara verfasserin aut Tonini Gian verfasserin aut Lombardi Laura verfasserin aut Del Rossi Carmine G verfasserin aut Bernasconi Sergio verfasserin aut In Italian Journal of Pediatrics BMC, 2004 38(2012), 1, p 9 (DE-627)352108029 (DE-600)2084688-5 18247288 nnns volume:38 year:2012 number:1, p 9 https://doi.org/10.1186/1824-7288-38-9 kostenfrei https://doaj.org/article/5ccfa3b23d7b4529934cb13294161e03 kostenfrei http://www.ijponline.net/content/38/1/9 kostenfrei https://doaj.org/toc/1720-8424 Journal toc kostenfrei https://doaj.org/toc/1824-7288 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 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_2014 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 38 2012 1, p 9
language	English
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callnumber-first	R - Medicine
author	Martucciello Giuseppe
spellingShingle	Martucciello Giuseppe misc RJ1-570 misc Neurocristopathies misc Neural Crest Cells misc Cancer misc MEN 2B misc Multiple Endocrine Neoplasia misc Medullary Thyroid Carcinoma misc RET proto-oncogene misc Thyroidectomy misc Neuroblastoma misc Hirschsprung's disease misc Pediatrics Multiple endocrine neoplasias type 2B and RET proto-oncogene
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topic_title	RJ1-570 Multiple endocrine neoplasias type 2B and RET proto-oncogene Neurocristopathies Neural Crest Cells Cancer MEN 2B Multiple Endocrine Neoplasia Medullary Thyroid Carcinoma RET proto-oncogene Thyroidectomy Neuroblastoma Hirschsprung's disease
topic	misc RJ1-570 misc Neurocristopathies misc Neural Crest Cells misc Cancer misc MEN 2B misc Multiple Endocrine Neoplasia misc Medullary Thyroid Carcinoma misc RET proto-oncogene misc Thyroidectomy misc Neuroblastoma misc Hirschsprung's disease misc Pediatrics
topic_unstemmed	misc RJ1-570 misc Neurocristopathies misc Neural Crest Cells misc Cancer misc MEN 2B misc Multiple Endocrine Neoplasia misc Medullary Thyroid Carcinoma misc RET proto-oncogene misc Thyroidectomy misc Neuroblastoma misc Hirschsprung's disease misc Pediatrics
topic_browse	misc RJ1-570 misc Neurocristopathies misc Neural Crest Cells misc Cancer misc MEN 2B misc Multiple Endocrine Neoplasia misc Medullary Thyroid Carcinoma misc RET proto-oncogene misc Thyroidectomy misc Neuroblastoma misc Hirschsprung's disease misc Pediatrics
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title_sort	multiple endocrine neoplasias type 2b and ret proto-oncogene
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title_auth	Multiple endocrine neoplasias type 2B and RET proto-oncogene
abstract	<p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.</p<
abstractGer	<p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.</p<
abstract_unstemmed	<p<Abstract</p< <p<Multiple Endocrine Neoplasia type 2B (MEN 2B) is an autosomal dominant complex oncologic neurocristopathy including medullary thyroid carcinoma, pheochromocytoma, gastrointestinal disorders, marphanoid face, and mucosal multiple ganglioneuromas. Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. The surgical treatment of MEN 2B is total thyroidectomy with cervical limphadenectomy of the central compartment of the neck. When possible, this intervention should be performed with prophylactic aim before 1 year of age in patients with molecular genetic diagnosis. Recent advances into the mechanisms of RET proto-oncogene signaling and pathways of RET signal transduction in the development of MEN 2 and MTC will allow new treatment possibilities.</p<
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title_short	Multiple endocrine neoplasias type 2B and RET proto-oncogene
url	https://doi.org/10.1186/1824-7288-38-9 https://doaj.org/article/5ccfa3b23d7b4529934cb13294161e03 http://www.ijponline.net/content/38/1/9 https://doaj.org/toc/1720-8424 https://doaj.org/toc/1824-7288
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author2	Lerone Margherita Bricco Lara Tonini Gian Lombardi Laura Del Rossi Carmine G Bernasconi Sergio
author2Str	Lerone Margherita Bricco Lara Tonini Gian Lombardi Laura Del Rossi Carmine G Bernasconi Sergio
ppnlink	352108029
callnumber-subject	RJ - Pediatrics
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doi_str	10.1186/1824-7288-38-9
callnumber-a	RJ1-570
up_date	2024-07-03T21:47:12.406Z
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Medullary thyroid carcinoma is the major cause of mortality in MEN 2B syndrome, and it often appears during the first years of life. RET proto-oncogene germline activating mutations are causative for MEN 2B. The 95% of MEN 2B patients are associated with a point mutation in exon 16 (M918/T). A second point mutation at codon 883 has been found in 2%-3% of MEN 2B cases. RET proto-oncogene is also involved in different neoplastic and not neoplastic neurocristopathies. Other RET mutations cause MEN 2A syndrome, familial medullary thyroid carcinoma, or Hirschsprung's disease. RET gene expression is also involved in Neuroblastoma. The main diagnosis standards are the acetylcholinesterase study of rectal mucosa and the molecular analysis of RET. In our protocol the rectal biopsy is, therefore, the first approach. RET mutation detection offers the possibility to diagnose MEN 2B predisposition at a pre-clinical stage in familial cases, and to perform an early total prophylactic thyroidectomy. 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