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British Society for Dermatopathology

DP01 An inherited BAP1 mutation in a U.K. family S. O’Shea, A. Mitra, W. Merchant, R. Charlton, J. Adlard and J.A. Newton-Bishop University of Leeds, Leeds, U.K.; St James’s University Hospital, Leeds, U.K. and Chapel Allerton Hospital, Leeds, U.K. BAP1 is a tumour suppressor gene on chromosome 3p21, which may be mutated in uveal and cutaneous melanomas (Carbone M, Ferris LK, Baumann F et al. BAP1 cancer syndrome: malignant mesothelioma, uveal and cutaneous melanoma, and MBAITs. J Transl Med 2012; 10: 179). A familial cancer syndrome has recently been reported in which carriers of an inherited mutation in the BAP1 gene have a tendency to develop mesotheliomas, meningiomas and other cancers (Abdel-Rahman MH, Pilarski R, Cebulla CM et al. Germline BAP1 mutation predisposes to uveal melanoma, lung adenocarcinoma, meningioma, and other cancers. J Med Genet 2011; 48: 856–9), in addition to cutaneous atypical spitzoid melanocytic lesions. Although these spitzoid lesions may be malignant they are not typical of melanomas clinically, commonly being dermal in origin, and the diagnosis is therefore easy to miss. Histopathological examination of the spitzoid lesions shows a combination of melanocytes with an epithelioid appearance and large, hyperchromatic nuclei (Carbone et al.). We report an inherited mutation in BRCA1-associated protein (encoded by BAP1) in a patient who presented with a bland but changing skin lesion at 26 years of age, diagnosed as a stage IIA melanoma. His maternal uncle had a history of melanoma. Six years after the proband’s initial diagnosis, he noticed another changing lesion. This was pink and bland in appearance but was excised in view of his history. Histology showed melanoma in situ, but it consisted of unusual cells with abundant cytoplasm. The patient’s maternal grandfather had died from suspected mesothelioma and his maternal aunt subsequently developed a malignant blue naevus of the scalp, which was difficult to diagnose and metastasized to the liver. Her brain magnetic resonance imaging scan showed an incidental meningioma. Both the proband’s maternal uncle and aunt had splenic hamartomas, identified on computed tomography of the abdomen. A history of difficult-to-diagnose melanoma and a family history of mesothelioma, meningioma and melanoma led us to consider a BAP1 mutation. The patient subsequently had a bilobed pink naevus excised. Histology revealed an unusual, intradermal, melanocytic lesion, composed of large, epithelioid cells with irregular, hyperchromatic nuclei. The appearance was consistent with reported cases of BAP1mutated spitzoid lesions. Following an invitation for screening extended to the whole family, his maternal cousin was diagnosed with a melanocytic tumour of uncertain malignant potential. A pathogenic mutation in the BAP1 gene was identified in the proband. BAP1 mutation detection would allow dermatological review and screening for rare cancers. Therefore multiple family members are currently undergoing genetic counselling. The presenter is funded by Cancer Research U.K.