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具有恶性转化的非典型软骨样汗管瘤:比较基因组杂交在确诊中的作用。

An atypical chondroid syringoma with malignant degeneration: Utility of comparative genomic hybridization in confirming the diagnosis.

机构信息

Department of Pathology and Laboratory Medicine, Henry Ford Hospital, Detroit, Michigan, USA.

Department of Dermatology, Henry Ford Hospital, Detroit, Michigan, USA.

出版信息

J Cutan Pathol. 2021 Jun;48(6):775-780. doi: 10.1111/cup.13965. Epub 2021 Feb 1.

Abstract

Chondroid syringoma (CS) represents the cutaneous counterpart of mixed tumor (pleomorphic adenoma) of salivary glands. Definitive diagnosis is made on histopathology and is based on the presence of characteristic epithelial and stromal components. We report a case of an atypical CS arising on the extremity of an elderly male patient. Histomorphologic features of necrosis and cellular atypia raised suspicion for malignant degeneration, an exceptionally rare circumstance in this context. To further support the diagnosis of malignancy, array comparative genomic hybridization was performed from both low and higher grade areas of the tumor. Both regions demonstrated multiple copy number gains and losses, with additional loss of q7p (TP53), loss of 19p, and loss of heterozygosity on16q demonstrated in the more atypical foci. To our knowledge, this is the first case description of malignant degeneration of a CS with correlative microarray analysis. The findings in this case may prove useful in confirming the diagnosis in future ambiguous cases.

摘要

软骨样汗管瘤(CS)是涎腺混合瘤(多形性腺瘤)的皮肤对应物。明确的诊断基于组织病理学,基于特征性的上皮和间质成分。我们报告了一例发生在老年男性四肢的非典型 CS 病例。坏死和细胞异型性的组织形态学特征提示恶性变性的可能性,这种情况在这种情况下非常罕见。为了进一步支持恶性诊断,对肿瘤的低级别和高级别区域均进行了阵列比较基因组杂交。两个区域均显示多个拷贝数增益和丢失,在更具异型性的病灶中还显示 q7p(TP53)缺失、19p 缺失和 16q 杂合性丢失。据我们所知,这是首例 CS 恶性变性的病例描述,并进行了相关的微阵列分析。该病例的发现可能有助于在未来的可疑病例中确认诊断。

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