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一系列具有斑块样轮廓和上皮样黑色素细胞松散巢状结构的 RET 融合 Spitz 肿瘤。

A Series of RET Fusion Spitz Neoplasms With Plaque-Like Silhouette and Dyscohesive Nesting of Epithelioid Melanocytes.

机构信息

Visiting Pre-doctoral Research Fellow, Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL.

Pre-doctoral Research Fellow, Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL.

出版信息

Am J Dermatopathol. 2021 Apr 1;43(4):243-251. doi: 10.1097/DAD.0000000000001780.

Abstract

Two distinct studies have shown that RET fusions are found in 3%-4% of Spitz neoplasms. RET fusions have been well described in papillary thyroid cancer, non-small-cell lung cancer, breast cancer, and soft-tissue mesenchymal tumors as well as some other neoplasms. However, there are no comprehensive descriptions to date of the characteristic morphologic, clinical, or genomic findings in RET fusion Spitz neoplasms. In this study, we identified 5 cases of RET fusion Spitz neoplasms. These tumors showed characteristic morphologic features which included plaque-like silhouette and monotonous epithelioid cytology with expansile and dyscohesive nesting. Four of 5 patients including 1 diagnosed as Spitz melanoma had clinical follow-up all of which was uneventful. Furthermore, we describe the genomic sequences in 4 of these cases, 2 of which have previously described KIF5B-RET fusion and 2 of which had a novel LMNA-RET fusion. We believe this report significantly contributes to our current knowledge regarding Spitz neoplasms and describes characteristics features which can help with recognition of the RET subgroup of Spitz.

摘要

两项独立的研究表明,RET 融合在 3%-4%的 Spitz 肿瘤中被发现。RET 融合已在甲状腺乳头状癌、非小细胞肺癌、乳腺癌和软组织间叶性肿瘤以及其他一些肿瘤中被很好地描述。然而,迄今为止,还没有关于 RET 融合 Spitz 肿瘤的特征形态、临床或基因组发现的全面描述。在这项研究中,我们鉴定了 5 例 RET 融合 Spitz 肿瘤。这些肿瘤表现出特征性的形态学特征,包括斑块样轮廓和单调的上皮样细胞学,具有扩张性和非黏附性巢状排列。5 例患者中的 4 例,包括 1 例诊断为 Spitz 黑色素瘤,均有临床随访,均无不良事件。此外,我们描述了其中 4 例的基因组序列,其中 2 例以前描述过 KIF5B-RET 融合,2 例有新的 LMNA-RET 融合。我们认为本报告对我们目前关于 Spitz 肿瘤的认识有重要贡献,并描述了有助于识别 Spitz 的 RET 亚群的特征性特征。

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