一种以 COL3A1::PDGFRA 融合为特征的皮肤纺锤形细胞瘤。

IF 1.6 4区医学 Q3 DERMATOLOGY

Journal of Cutaneous Pathology Pub Date : 2024-05-26 DOI:10.1111/cup.14661

James Watkins, Edward Jackson, Patrick Tarpey, John A. Tadross, Jamie Trotman, Emily O'Dea

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引用次数: 0

摘要

仅使用常规组织病理学技术诊断皮肤纺锤形细胞瘤可能具有挑战性，而越来越多的分子研究可以帮助诊断。我们描述了一种皮肤纺锤形细胞瘤，其特征是COL3A1::PDGFRA重排，预计会导致PDGFRA激酶结构域的组成性激活。该病变与原发性皮纤维肉瘤、良性纤维组织细胞瘤和上皮样纤维组织细胞瘤有一些相似之处，但在组织病理学和分子学上又与这些实体不同。这种肿瘤被认为是 PDGFR 驱动的皮肤间充质肿瘤谱系中的一个实体。

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A cutaneous spindle cell neoplasm characterized by a COL3A1::PDGFRA fusion

Cutaneous spindle cell neoplasms can be challenging to diagnose using routine histopathological techniques alone, and the growing repertoire of molecular studies can assist in diagnosis. We describe a cutaneous spindle cell neoplasm characterized by a COL3A1::PDGFRA rearrangement predicted to lead to constitutive activation of the PDGFRA kinase domain. The lesion shows some similarities to dermatofibrosarcoma protuberans and also benign and epithelioid fibrous histiocytomas but is distinct from these entities histopathologically and molecularly. This tumor is considered to represent an entity in the spectrum of PDGFR-driven cutaneous mesenchymal neoplasms.

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来源期刊

Journal of Cutaneous Pathology 医学-病理学

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.