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未分化黑色素瘤类似于未分化圆形细胞肉瘤:分子黑色素瘤特征的诊断效力。

Undifferentiated Melanoma Resembling Undifferentiated Round Cell Sarcoma: The Diagnostic Power of Molecular Melanoma Signature.

机构信息

Department of Pathology, 37515Hacettepe University, Ankara, Turkey.

Department of Medical Genetics, 37515Hacettepe University, Ankara, Turkey.

出版信息

Int J Surg Pathol. 2022 May;30(3):346-349. doi: 10.1177/10668969211052238. Epub 2021 Oct 7.

Abstract

Melanomas presenting in primary or metastatic sites with a poorly differentiated histology comprise dedifferentiated (DM) and undifferentiated melanomas (UM), the latter consisting purely of undifferentiated cells and totally lacking immunophenotypic features of melanoma. These entities have a wide morphological spectrum including round cell sarcoma-like features which pose a significant diagnostic challenge. Here we present a case of UM with morphological and immunohistochemical features resembling undifferentiated round cell sarcoma, whose diagnosis could only be established after proper integration of clinical and molecular data. This diagnostically challenging case, fulfilling the previously proposed diagnostic criteria by Agaimy et al, expands the clinicopathological spectrum of DM/UM, highlights the essence of molecular signature, and further emphasizes the importance of patient's history in any morphological setting.

摘要

在原发性或转移性部位表现出低分化组织学的黑色素瘤包括去分化型(DM)和未分化型黑色素瘤(UM),后者纯粹由未分化细胞组成,完全缺乏黑色素瘤的免疫表型特征。这些实体具有广泛的形态学谱,包括类似于圆形细胞肉瘤样特征的特征,这给诊断带来了重大挑战。在这里,我们介绍了一个具有类似于未分化圆形细胞肉瘤的形态学和免疫组织化学特征的 UM 病例,只有在适当整合临床和分子数据后才能做出诊断。这个具有诊断挑战性的病例符合 Agaimy 等人提出的先前诊断标准,扩大了 DM/UM 的临床病理谱,突出了分子特征的本质,并进一步强调了患者病史在任何形态学背景下的重要性。

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