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手部 FN1 融合性钙化性软骨性间叶性肿瘤病例,伴有新型 FGFR3 伙伴基因。

A case of FN1-fused calcified chondroid mesenchymal neoplasm of the hand with novel FGFR3 partner gene.

机构信息

Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.

Department of Pathology, New York University, New York, New York, USA.

出版信息

Genes Chromosomes Cancer. 2023 Apr;62(4):237-241. doi: 10.1002/gcc.23115. Epub 2022 Dec 23.

Abstract

Calcified chondroid neoplasms with FN1::FGFR1 or FGFR2 fusions constitute a recently described category of mesenchymal neoplasms mostly encountered in the extremities and temporomandibular joint. Herein, we report a case of FNI1-fused calcified chondroid neoplasm of the hand with a novel FGFR3 fusion partner. The tumor exhibited a multilobulated growth pattern composed of epithelioid cells embedded in abundant stroma with myxoid, chondroid, and fibrous areas and scattered osteoclast-like giant cells. RNA sequencing revealed an in-frame fusion between Exon 31 of FN1 and Exon 3 of FGFR3, which was subsequently confirmed by reverse transcription-polymerase chain reaction. Our findings expand on the spectrum of potential fusion partners in FN1-fused calcified chondroid neoplasms.

摘要

具有 FN1::FGFR1 或 FGFR2 融合的钙化性软骨性肿瘤构成了最近描述的一类间叶性肿瘤,主要发生在四肢和颞下颌关节。在此,我们报告一例手部 FN1 融合的钙化性软骨性肿瘤,具有新颖的 FGFR3 融合伙伴。肿瘤表现为多叶状生长模式,由嵌入丰富基质中的上皮样细胞组成,基质中具有黏液样、软骨样和纤维样区域以及散在的破骨样巨细胞。RNA 测序显示 FN1 的外显子 31 与 FGFR3 的外显子 3 之间存在框内融合,随后通过逆转录-聚合酶链反应得到证实。我们的发现扩展了 FN1 融合的钙化性软骨性肿瘤中潜在融合伙伴的范围。

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