BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs)...
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Autor*in:	Soares de Sá, Bianca Costa [verfasserIn] de Macedo, Mariana Petaccia Torrezan, Giovana Tardin Braga, Juliana Casagrande Tavoloni Fidalgo, Felipe Moredo, Luciana Facure Lellis, Rute Duprat, João Pereira Carraro, Dirce Maria

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2019

Schlagwörter:	BIMT BAP1 Hereditary cancer syndromes Dermoscopy Confocal microscopy

Anmerkung:	© The Author(s). 2019

Übergeordnetes Werk:	Enthalten in: BMC cancer - London : BioMed Central, 2001, 19(2019), 1 vom: 09. Nov.
Übergeordnetes Werk:	volume:19 ; year:2019 ; number:1 ; day:09 ; month:11

Links:	Volltext

DOI / URN:	10.1186/s12885-019-6226-8

Katalog-ID:	SPR027719103

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520			\|a Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors.
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allfields	10.1186/s12885-019-6226-8 doi (DE-627)SPR027719103 (SPR)s12885-019-6226-8-e DE-627 ger DE-627 rakwb eng Soares de Sá, Bianca Costa verfasserin aut BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. BIMT (dpeaa)DE-He213 BAP1 (dpeaa)DE-He213 Hereditary cancer syndromes (dpeaa)DE-He213 Dermoscopy (dpeaa)DE-He213 Confocal microscopy (dpeaa)DE-He213 de Macedo, Mariana Petaccia aut Torrezan, Giovana Tardin aut Braga, Juliana Casagrande Tavoloni aut Fidalgo, Felipe aut Moredo, Luciana Facure aut Lellis, Rute aut Duprat, João Pereira aut Carraro, Dirce Maria (orcid)0000-0001-5667-1418 aut Enthalten in BMC cancer London : BioMed Central, 2001 19(2019), 1 vom: 09. Nov. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:19 year:2019 number:1 day:09 month:11 https://dx.doi.org/10.1186/s12885-019-6226-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2019 1 09 11
spelling	10.1186/s12885-019-6226-8 doi (DE-627)SPR027719103 (SPR)s12885-019-6226-8-e DE-627 ger DE-627 rakwb eng Soares de Sá, Bianca Costa verfasserin aut BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. BIMT (dpeaa)DE-He213 BAP1 (dpeaa)DE-He213 Hereditary cancer syndromes (dpeaa)DE-He213 Dermoscopy (dpeaa)DE-He213 Confocal microscopy (dpeaa)DE-He213 de Macedo, Mariana Petaccia aut Torrezan, Giovana Tardin aut Braga, Juliana Casagrande Tavoloni aut Fidalgo, Felipe aut Moredo, Luciana Facure aut Lellis, Rute aut Duprat, João Pereira aut Carraro, Dirce Maria (orcid)0000-0001-5667-1418 aut Enthalten in BMC cancer London : BioMed Central, 2001 19(2019), 1 vom: 09. Nov. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:19 year:2019 number:1 day:09 month:11 https://dx.doi.org/10.1186/s12885-019-6226-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2019 1 09 11
allfields_unstemmed	10.1186/s12885-019-6226-8 doi (DE-627)SPR027719103 (SPR)s12885-019-6226-8-e DE-627 ger DE-627 rakwb eng Soares de Sá, Bianca Costa verfasserin aut BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. BIMT (dpeaa)DE-He213 BAP1 (dpeaa)DE-He213 Hereditary cancer syndromes (dpeaa)DE-He213 Dermoscopy (dpeaa)DE-He213 Confocal microscopy (dpeaa)DE-He213 de Macedo, Mariana Petaccia aut Torrezan, Giovana Tardin aut Braga, Juliana Casagrande Tavoloni aut Fidalgo, Felipe aut Moredo, Luciana Facure aut Lellis, Rute aut Duprat, João Pereira aut Carraro, Dirce Maria (orcid)0000-0001-5667-1418 aut Enthalten in BMC cancer London : BioMed Central, 2001 19(2019), 1 vom: 09. Nov. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:19 year:2019 number:1 day:09 month:11 https://dx.doi.org/10.1186/s12885-019-6226-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2019 1 09 11
allfieldsGer	10.1186/s12885-019-6226-8 doi (DE-627)SPR027719103 (SPR)s12885-019-6226-8-e DE-627 ger DE-627 rakwb eng Soares de Sá, Bianca Costa verfasserin aut BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. BIMT (dpeaa)DE-He213 BAP1 (dpeaa)DE-He213 Hereditary cancer syndromes (dpeaa)DE-He213 Dermoscopy (dpeaa)DE-He213 Confocal microscopy (dpeaa)DE-He213 de Macedo, Mariana Petaccia aut Torrezan, Giovana Tardin aut Braga, Juliana Casagrande Tavoloni aut Fidalgo, Felipe aut Moredo, Luciana Facure aut Lellis, Rute aut Duprat, João Pereira aut Carraro, Dirce Maria (orcid)0000-0001-5667-1418 aut Enthalten in BMC cancer London : BioMed Central, 2001 19(2019), 1 vom: 09. Nov. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:19 year:2019 number:1 day:09 month:11 https://dx.doi.org/10.1186/s12885-019-6226-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2019 1 09 11
allfieldsSound	10.1186/s12885-019-6226-8 doi (DE-627)SPR027719103 (SPR)s12885-019-6226-8-e DE-627 ger DE-627 rakwb eng Soares de Sá, Bianca Costa verfasserin aut BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy 2019 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s). 2019 Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. BIMT (dpeaa)DE-He213 BAP1 (dpeaa)DE-He213 Hereditary cancer syndromes (dpeaa)DE-He213 Dermoscopy (dpeaa)DE-He213 Confocal microscopy (dpeaa)DE-He213 de Macedo, Mariana Petaccia aut Torrezan, Giovana Tardin aut Braga, Juliana Casagrande Tavoloni aut Fidalgo, Felipe aut Moredo, Luciana Facure aut Lellis, Rute aut Duprat, João Pereira aut Carraro, Dirce Maria (orcid)0000-0001-5667-1418 aut Enthalten in BMC cancer London : BioMed Central, 2001 19(2019), 1 vom: 09. Nov. (DE-627)326643710 (DE-600)2041352-X 1471-2407 nnns volume:19 year:2019 number:1 day:09 month:11 https://dx.doi.org/10.1186/s12885-019-6226-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA 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_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2031 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2061 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2190 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 19 2019 1 09 11
language	English
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author	Soares de Sá, Bianca Costa
spellingShingle	Soares de Sá, Bianca Costa misc BIMT misc BAP1 misc Hereditary cancer syndromes misc Dermoscopy misc Confocal microscopy BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy
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topic_title	BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy BIMT (dpeaa)DE-He213 BAP1 (dpeaa)DE-He213 Hereditary cancer syndromes (dpeaa)DE-He213 Dermoscopy (dpeaa)DE-He213 Confocal microscopy (dpeaa)DE-He213
topic	misc BIMT misc BAP1 misc Hereditary cancer syndromes misc Dermoscopy misc Confocal microscopy
topic_unstemmed	misc BIMT misc BAP1 misc Hereditary cancer syndromes misc Dermoscopy misc Confocal microscopy
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title	BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy
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title_full	BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy
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author_browse	Soares de Sá, Bianca Costa de Macedo, Mariana Petaccia Torrezan, Giovana Tardin Braga, Juliana Casagrande Tavoloni Fidalgo, Felipe Moredo, Luciana Facure Lellis, Rute Duprat, João Pereira Carraro, Dirce Maria
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title_sort	bap1 tumor predisposition syndrome case report: pathological and clinical aspects of bap1-inactivated melanocytic tumors (bimts), including dermoscopy and confocal microscopy
title_auth	BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy
abstract	Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. © The Author(s). 2019
abstractGer	Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. © The Author(s). 2019
abstract_unstemmed	Background BRCA1 associated-protein 1 (BAP1) tumor predisposition syndrome is associated with an increased risk for malignant mesotheliomas, uveal and cutaneous melanomas, renal cell carcinomas, and singular cutaneous lesions. The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. Conclusions This knowledge is crucial for the recognition of BIMTs by dermatologists and pathologists, allowing the determination of appropriate management for high-risk patients, such as genetic investigations and screening for potentially aggressive tumors. © The Author(s). 2019
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title_short	BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy
url	https://dx.doi.org/10.1186/s12885-019-6226-8
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author2	de Macedo, Mariana Petaccia Torrezan, Giovana Tardin Braga, Juliana Casagrande Tavoloni Fidalgo, Felipe Moredo, Luciana Facure Lellis, Rute Duprat, João Pereira Carraro, Dirce Maria
author2Str	de Macedo, Mariana Petaccia Torrezan, Giovana Tardin Braga, Juliana Casagrande Tavoloni Fidalgo, Felipe Moredo, Luciana Facure Lellis, Rute Duprat, João Pereira Carraro, Dirce Maria
ppnlink	326643710
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doi_str	10.1186/s12885-019-6226-8
up_date	2024-07-03T14:43:55.110Z
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The latter are referred to as BAP1-inactivated melanocytic tumors (BIMTs). When multiple BIMTs manifest, they are considered potential markers of germline BAP1 mutations. Case presentation Here, we report a novel pathogenic BAP1 germline variant in a family with a history of BIMTs, cutaneous melanomas, and mesotheliomas. We also describe singular pathological aspects of the patient’s BIMT lesions and their correlation with dermoscopic and reflectance confocal microscopy findings. 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BAP1 tumor predisposition syndrome case report: pathological and clinical aspects of BAP1-inactivated melanocytic tumors (BIMTs), including dermoscopy and confocal microscopy

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