Department of Pathology, Dartmouth Hitchcock Medical Center, Lebanon, New Hampshire, USA.
Department of Pathology, New York University, New York, New York, USA.
Genes Chromosomes Cancer. 2023 Apr;62(4):237-241. doi: 10.1002/gcc.23115. Epub 2022 Dec 23.
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.
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。