侵袭性黑色素瘤发生在bap1失活的黑色素细胞肿瘤伴NRAS突变:一个特殊病例的报告,重点是其基因组特征和文献复习。

IF 1.1 4区 医学 Q3 DERMATOLOGY
Muath Alyahya, Nyi Nyi May-Phyo, Ami Wang, Shamini Selvarajah, Cuihong Wei, Calvin Tseng, Tao Wang, Tara Baetz, Zaid Saeed Kamil
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引用次数: 0

摘要

BAP1失活的黑色素细胞瘤是一种独特的实体,BAP1蛋白和上皮样形态的丧失。它与Spitz痣和痣样黑色素瘤具有相同的组织病理学特征,它可以零星发生或伴有种系BAP1易感性综合征。这些病变通常有肿瘤浸润淋巴细胞和罕见的有丝分裂。它们通常是惰性的,尽管黑色素瘤可以在种系和散发性病例中出现。多数表现为BRAF V600E和BAP1突变。我们描述了1例bap1 -肿瘤易感综合征(BAP1-TPDS)患者的4个肿瘤:2例发生于BIMT的侵袭性黑色素瘤和2例恶性潜能不确定的BIMT。分子分析和荧光原位杂交(FISH)显示,BAP1和NRAS在黑色素瘤和BAP1失活的黑色素细胞肿瘤成分中发生突变,仅在黑色素瘤成分中增加6p25 (RREB1)。患者完成了派姆单抗辅助治疗,无转移迹象。这是一种罕见的伴有BAP1和NRAS突变的BIMT,缺乏BRAF V600突变,并且在所有病变细胞中BAP1免疫反应性丧失。我们的病例增加了对bap1失活黑色素细胞肿瘤的组织形态学和突变谱的理解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Invasive Melanoma Arising in a BAP1-Inactivated Melanocytic Tumor With NRAS Mutation: A Report of Exceptional Case With Emphasis on Its Genomic Features and Review of the Literature

BAP1-inactivated melanocytic tumor is a distinct entity with loss of BAP1 protein and epithelioid morphology. It shares histopathologic features with Spitz nevus and nevoid melanoma, and it can occur sporadically or with germline BAP1 predisposition syndrome. These lesions typically have tumor-infiltrating lymphocytes and infrequent mitoses. They are generally indolent, though melanoma can arise in both germline and sporadic cases. Most show BRAF V600E and BAP1 mutations. We describe four tumors in one patient diagnosed with BAP1-tumor predisposition syndrome (BAP1-TPDS): two invasive melanomas arising in BIMT and two BIMTs with uncertain malignant potential. Molecular analysis and fluorescence in situ hybridization (FISH) revealed BAP1 and NRAS mutations in melanoma and BAP1-inactivated melanocytic tumor components, with a gain of 6p25 (RREB1) in the melanoma component only. The patient completed pembrolizumab adjuvant therapy with no evidence of metastasis. This is a rare presentation of BIMT with BAP1 and NRAS mutations, absence of BRAF V600 mutation, and loss of BAP1 immunoreactivity in all lesional cells. Our case adds to the understanding of the histomorphologic and mutational spectrum in BAP1-inactivated melanocytic tumors.

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来源期刊
CiteScore
3.20
自引率
5.90%
发文量
174
审稿时长
3-8 weeks
期刊介绍: Journal of Cutaneous Pathology publishes manuscripts broadly relevant to diseases of the skin and mucosae, with the aims of advancing scientific knowledge regarding dermatopathology and enhancing the communication between clinical practitioners and research scientists. Original scientific manuscripts on diagnostic and experimental cutaneous pathology are especially desirable. Timely, pertinent review articles also will be given high priority. Manuscripts based on light, fluorescence, and electron microscopy, histochemistry, immunology, molecular biology, and genetics, as well as allied sciences, are all welcome, provided their principal focus is on cutaneous pathology. Publication time will be kept as short as possible, ensuring that articles will be quickly available to all interested in this speciality.
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