Dermatopathology Unit, Pathology Service, Massachusetts General Hospital, Boston, Massachusetts.
Harvard Medical School, Boston, Massachusetts.
J Cutan Pathol. 2020 May;47(5):459-461. doi: 10.1111/cup.13671. Epub 2020 Mar 6.
BAP1-inactivated melanocytic tumors typically present with distinctive histopathological changes and loss of nuclear BAP1 protein expression. Rare cases exhibit the typical morphology but with preserved expression of BAP1. In the current issue of Journal of Cutaneous Pathology, Linos et al. describe such a case and provide a comprehensive molecular-genetic exploration to explain such a phenomenon.
BAP1 失活的黑色素细胞肿瘤通常表现出独特的组织病理学改变和核 BAP1 蛋白表达缺失。少数病例表现出典型的形态学特征,但 BAP1 表达保留。在本期《皮肤病理学杂志》中,Linos 等人描述了这样一个病例,并进行了全面的分子遗传学探索,以解释这种现象。