Aung Phyu P, Nagarajan Priyadharsini, Tetzlaff Michael T, Curry Jonathan L, Tang Guilin, Abdullaev Zied, Pack Svetlana D, Ivan Doina, Prieto Victor G, Torres-Cabala Carlos A
Assistant Professor, Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
Associate Professor, Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX.
Am J Dermatopathol. 2019 Mar;41(3):167-179. doi: 10.1097/DAD.0000000000001217.
The presence of multiple BAP1-negative melanocytic neoplasms is a hallmark of familial cancer susceptibility syndrome caused by germline mutations in BAP1. Melanocytic tumors lacking BAP1 expression may also present as sporadic lesions in patients lacking a germline BAP1 mutation. Here, we report histomorphologic and clinical characteristics of cutaneous melanomas with loss of BAP1 expression in 4 patients with no known history of BAP1-associated cancer susceptibility syndrome. The lesions were nodular melanomas composed predominantly of intradermal large epithelioid (Spitzoid) melanocytes with nuclear pseudoinclusions as well as scattered multinucleated cells, arising in association with a typical intradermal nevus. Of the 4 patients, only 1 had recurrence. This patient had multiple recurrences with in-transit and regional lymph node metastases. To the best of our knowledge, this is the first reported series of cutaneous melanomas with loss of BAP1 expression arising in patients without a family history of cancer.
多个BAP1阴性黑素细胞性肿瘤的存在是由BAP1种系突变引起的家族性癌症易感性综合征的一个标志。在缺乏BAP1种系突变的患者中，缺乏BAP1表达的黑素细胞肿瘤也可能表现为散发性病变。在此，我们报告了4例无BAP1相关癌症易感性综合征已知病史患者中BAP1表达缺失的皮肤黑色素瘤的组织形态学和临床特征。这些病变为结节性黑色素瘤，主要由真皮内大的上皮样（Spitz样）黑素细胞组成，伴有核假包涵体以及散在的多核细胞，与典型的真皮内痣相关。4例患者中，只有1例复发。该患者多次复发，伴有皮下转移和区域淋巴结转移。据我们所知，这是首次报道的无癌症家族史患者中出现BAP1表达缺失的皮肤黑色素瘤系列病例。
