Clinical, dermoscopic, histological and molecular analysis of BAP1‐inactivated melanocytic naevus/tumour in two familial cases of BAP1 syndrome

BRCA1 associated protein (BAP)1-inactivated melanocytic nevus/tumours (BIMN/Ts) are specific skin tumours that appear during the first two decades of life. These lesions must be recognized by dermatologists and pathologists as an early predictive marker of BAP1 cancer syndrome, as they may precede the development of uveal and cutaneous melanomas, mesotheliomas, lung adenocarcinomas, renal cell carcinomas, and meningiomas by several years. The dermoscopic characteristics of these tumours have not been described. This article is protected by copyright. All rights reserved.

[1]  D. Pissaloux,et al.  Atypical cutaneous melanocytic tumours arising in two patients with Li-Fraumeni syndrome. , 2017, Pathology.

[2]  C. Shea,et al.  Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature , 2017, JAMA dermatology.

[3]  M. Mihm,et al.  BAP1 and BRAFV600E expression in benign and malignant melanocytic proliferations. , 2015, Human pathology.

[4]  Pierre Vabres,et al.  Recommandations pour le diagnostic de prédisposition génétique au mélanome cutané et pour la prise en charge des personnes à risque , 2015 .

[5]  L. Thomas,et al.  [Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma]. , 2015, Annales de dermatologie et de venereologie.

[6]  K. Busam,et al.  Multiple epithelioid Spitz nevi or tumors with loss of BAP1 expression: a clue to a hereditary tumor syndrome. , 2013, JAMA dermatology.

[7]  A. von Deimling,et al.  Combined BRAFV600E-positive Melanocytic Lesions With Large Epithelioid Cells Lacking BAP1 Expression and Conventional Nevomelanocytes , 2013, The American journal of surgical pathology.

[8]  H. Pass,et al.  BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs , 2012, Journal of Translational Medicine.

[9]  L. Cerroni,et al.  A Distinct Subset of Atypical Spitz Tumors is Characterized by BRAF Mutation and Loss of BAP1 Expression , 2012, The American journal of surgical pathology.