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Histopathology of melanocytic lesions in a family with an inherited BAP1 mutation
Author(s) -
O'Shea Sally J.,
Mitra Angana,
Graham Jennifer L.,
Charlton Ruth,
Adlard Julian,
Merchant Will,
NewtonBishop Julia A.
Publication year - 2016
Publication title -
journal of cutaneous pathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 75
eISSN - 1600-0560
pISSN - 0303-6987
DOI - 10.1111/cup.12625
Subject(s) - pathology , medicine , epithelioid cell , melanoma , histopathology , nuclear atypia , eosinophilic , giant cell , family history , immunohistochemistry , cancer research
To the Editor, We read with interest the report by Marusic et al.1 who expanded on the histopathological features of melanocytic neoplasms in a family with an inherited BAP1 mutation. Marusic et al.1 described the presence of nuclear pseudoinclusions and multinucleated melanocytes within five of six nevi from this family. The lesions were mainly intradermal, composed of large epithelioid melanocytes, and showed loss of BAP1 expression by immunohistochemistry. We report similar histopathological findings in melanocytic lesions excised from members of an English family in which a germline pathogenic BAP1 mutation has been identified. The proband was diagnosed with melanoma at 26 years of age that was clinically bland and pink in appearance. This was initially considered to be a melanocytic lesion of uncertain malignant potential (MELTUMP) but on further assessment, showed significant cytological atypia and lacked maturation and was therefore treated as a melanoma. The Breslow thickness was 2.4 mm and there was no evidence of ulceration. This patient later developed a melanoma in situ. He had multiple pink, bland nevi one of which subsequently changed and this was excised in view of his significant history. Histopathological examination showed an intradermal melanocytic neoplasm composed of epithelioid melanocytes with abundant cytoplasm, some of which contained multinucleated cells (Fig. 1A) and nuclear pseudoinclusions (Fig. 1B). The proband’s maternal grandfather had occupational exposure to asbestos and had died of mesothelioma. His maternal uncle had a history of stage IIA melanoma, which later metastasized to a regional lymph node. Striking pleomorphism, multinucleated melanocytes and nuclear pseudoinclusions were readily identified in this nodal metastasis. The proband’s maternal aunt, presented at 44 years of age with a history of a recalcitrant scalp lesion, which had been curetted twice elsewhere in the belief that this was a cyst. The curettings had not been sent for histopathological assessment. Following a further recurrence, approximately 18 months after onset, the lesion was partially excised by general surgeons. Histopathology revealed a malignant blue nevus-like melanoma showing a highly cellular melanocytic tumor, at least 11 mm in thickness; composed of spindle cells and some dendritic-like melanocytes. Nuclear pseudoinclusions were noted, although distributed more sparsely within this lesion. To our knowledge, there is only one other reported case of a 64-year-old female with a BAP1 germline mutation who had a malignant blue nevus-like melanoma of the scalp.2 Our patient was also found to have a meningioma on computed tomography (CT) scanning. Following an invitation for screening, the proband’s maternal cousin had a pink lesion excised, due to a history of change. This was diagnosed as a spitzoid tumor of uncertain malignant potential (STUMP). The tumor consisted of a lobulated, intradermal nodule composed of pleomorphic epithelioid melanocytes, flanked by a more diffuse melanocytic lesion with hyperchromatic nuclei (Fig. 2A). Nuclear