Dai Julia, Tetzlaff Michael T, Schuchter Lynn M, Elder David E, Elenitsas Rosalie
Department of Medicine, Mount Sinai Hospital, New York, NY, USA.
Department of Pathology, Section of Dermatopathology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
J Cutan Pathol. 2016 Sep;43(9):776-80. doi: 10.1111/cup.12731. Epub 2016 Jun 8.
Blue nevi are a heterogeneous group of dermal melanocytic proliferations that share a common clinical appearance but remain controversial in their histopathologic and biologic distinction. While common blue nevi and cellular blue nevi are well-defined entities that are classified without significant controversy, the distinction between atypical cellular blue nevi and blue nevus-like melanoma remains diagnostically challenging. We report a case of a 46-year-old female with recurrent blue nevus-like melanoma of the scalp with liver metastases; mutational analysis showed GNA11 Q209L and BAP1 Q393 mutations. To our knowledge, this is the first case of blue nevus-like melanoma with GNA11 and BAP1 mutations. These particular mutations and the predilection for liver metastases in our patient's case underscore a fundamental biological relationship between blue nevi and uveal melanoma and suggest the two entities may prove amenable to similar diagnostic and prognostic testing and targeted therapies.
蓝色痣是一组异质性的真皮黑素细胞增生性病变,它们具有共同的临床表现,但在组织病理学和生物学鉴别方面仍存在争议。虽然普通蓝色痣和细胞性蓝色痣是定义明确的实体,分类时争议不大,但非典型细胞性蓝色痣和蓝色痣样黑色素瘤之间的鉴别在诊断上仍具有挑战性。我们报告了一例46岁女性复发性头皮蓝色痣样黑色素瘤伴肝转移的病例;突变分析显示存在GNA11 Q209L和BAP1 Q393突变。据我们所知,这是首例具有GNA11和BAP1突变的蓝色痣样黑色素瘤病例。这些特定的突变以及我们患者病例中肝转移的倾向强调了蓝色痣与葡萄膜黑色素瘤之间的基本生物学关系,并表明这两种实体可能适用于类似的诊断和预后检测以及靶向治疗。