小儿盆腔软组织血管肉瘤中的新型 TEK::GAB2 基因融合：病例报告与文献综述

IF 1.3 4区医学 Q3 PATHOLOGY

Pediatric and Developmental Pathology Pub Date : 2024-09-09 DOI:10.1177/10935266241279073

Zachary Emmanuel Sandoval, Ryan J Schmidt, Jessica Sheth Bhutada, Nick Shillingford, Shengmei Zhou

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引用次数: 0

摘要

小儿软组织血管肉瘤是一种极为罕见的疾病，从遗传学角度来看，人们对这种疾病的了解仍然很少。在此，我们介绍了一例病例，患者是一名原本健康的 17 岁女孩，因急性左髋部疼痛而就诊。随后的磁共振成像显示，患者左侧骨盆侧壁有一个 21.8 厘米的肿块，肿块呈异质强化，并伴有多个肺结节。肿瘤活检显示为浸润性出血性肿瘤，主要由非典型纺锤形至上皮样细胞组成。病灶血管形态结构清晰可见。免疫组化结果显示，肿瘤细胞的 CD31、ERG 和 FLI-1 呈强阳性，支持血管肉瘤的诊断。基因分析发现了一种新型的TEK::GAB2基因融合体。TEK 属于血管生成素受体家族，它与 GAB2 的融合被认为是肿瘤发生的介导因素。该报告扩展了目前有关血管肉瘤基因重排谱的知识。

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A Novel TEK::GAB2 Gene Fusion in Pediatric Angiosarcoma of Pelvic soft Tissue: A Case Report and Literature Review.

Pediatric angiosarcoma of soft tissue, an extremely rare entity, remains poorly understood from a genetic standpoint. Herein, we present the case of a previously healthy 17-year-old girl with acute left hip pain. Subsequent magnetic resonance imaging revealed a 21.8 cm left pelvic sidewall mass with heterogeneous enhancement and multiple lung nodules. Biopsy of the tumor showed an infiltrative, hemorrhagic neoplasm composed primarily of atypical spindle to epithelioid cells. Focal vasoformative architecture was appreciated. Immunohistochemically, the tumor cells were strongly positive for CD31, ERG, and FLI-1, supporting the diagnosis of angiosarcoma. Genetic analysis identified a novel TEK::GAB2 gene fusion. TEK belongs to the angiopoietin receptor family, and its fusion with GAB2 is predicted to mediate tumorigenesis. This report expands the current knowledge on the spectrum of gene rearrangements of angiosarcoma.

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来源期刊

Pediatric and Developmental Pathology 医学-病理学

CiteScore

3.70

自引率

5.30%

发文量

审稿时长

6-12 weeks

期刊介绍： The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.