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皮肤间叶性肿瘤在诊断、分类及分子发病机制方面的最新进展

Recent advances in the diagnosis, classification and molecular pathogenesis of cutaneous mesenchymal neoplasms.

作者信息

Papke D J, Hornick J L

机构信息

Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.

出版信息

Histopathology. 2022 Jan;80(1):216-232. doi: 10.1111/his.14450.

DOI:10.1111/his.14450
PMID:34958499
Abstract

The diagnosis of cutaneous mesenchymal neoplasms remains challenging, due to a combination of overlapping histological features, the rarity of some diagnoses and often inadequate sampling in superficial biopsies. Here, we describe recent advances in cutaneous mesenchymal neoplasms. We discuss improvements in our understanding of the molecular pathogenesis of non-neural granular cell tumour, epithelioid fibrous histiocytoma, composite and retiform haemangioendothelioma and dermatofibrosarcoma protuberans. We also discuss recently described tumour types, including some discovered via molecular testing: EWSR1::SMAD3-rearranged fibroblastic tumour, clear cell neoplasm with MITF::CREM rearrangement and melanocytoma with CRCT1::TRIM11 rearrangement, and some discovered via traditional histopathology: superficial CD34-positive fibroblastic tumour, plexiform myofibroblastoma and clear cell neoplasm with melanocytic differentiation and ACTIN::MITF translocation.

摘要

皮肤间叶性肿瘤的诊断仍然具有挑战性,这是由于组织学特征重叠、某些诊断罕见以及浅表活检时取样往往不足等多种因素所致。在此,我们描述皮肤间叶性肿瘤的最新进展。我们讨论了在非神经颗粒细胞瘤、上皮样纤维组织细胞瘤、复合性和网状血管内皮瘤以及隆突性皮肤纤维肉瘤分子发病机制理解方面的进展。我们还讨论了最近描述的肿瘤类型,包括一些通过分子检测发现的类型:EWSR1::SMAD3重排的纤维母细胞瘤、具有MITF::CREM重排的透明细胞肿瘤以及具有CRCT1::TRIM11重排的黑素细胞瘤,以及一些通过传统组织病理学发现的类型:浅表CD34阳性纤维母细胞瘤、丛状肌纤维母细胞瘤以及具有黑素细胞分化和ACTIN::MITF易位的透明细胞肿瘤。

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