High-Grade Sarcomatous Transformation of Hybrid Hemosiderotic Fibrolipomatous Tumor-Myxoinflammatory Fibroblastic Sarcoma with Novel ADAMTS12::TERT Gene Fusion

被引:0
作者
Gandhi, Jatin S. [1 ]
Deeb, Kristin K. [1 ]
Chen, Eleanor Y. [2 ]
Bandhlish, Anshu [2 ]
机构
[1] Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA USA
[2] Univ Washington, Dept Lab Med & Pathol, 1959 NE Pacific St,POB 356100, Seattle, WA 98195 USA
关键词
<italic>ADAMTS12</italic>; <italic>TERT</italic>; HFLT; MIFS; sarcoma; FIBROHISTIOCYTIC LIPOMATOUS LESION; MGEA5; REARRANGEMENTS; TELOMERASE; TGFBR3;
D O I
10.1177/10668969241300492
中图分类号
R36 [病理学];
学科分类号
100104 ;
摘要
Hemosiderotic fibrolipomatous tumor (HFLT) and myxoinflammatory fibroblastic sarcoma (MIFS) are rare, locally aggressive soft tissue tumors with a predilection for distal extremities of middle-aged adults. Hybrid tumors (HFLT-MIFS) demonstrate overlapping features of both and share recurrent translocation (1;10) (p22; q24). We describe a tumor with high-grade sarcomatous transformation of a hybrid HFLT-MIFS, with a novel ADAMTS12::TERT gene fusion, presenting as a right foot soft tissue mass in an 85-year-old woman. Histologically, the tumor showed a high-grade sarcoma with areas of hybrid HFLT-MIFS in subsequent resection. The patient was treated surgically with a below-knee amputation and interval radiation therapy. On RNA-based next-generation sequencing, the tumor harbored a novel ADAMTS12::TERT gene fusion. In addition to reporting a novel gene fusion in a rare example of hybrid HFLT-MIFS with high-grade sarcomatous transformation, we also discuss relevant morphological features of sarcomatous HFLT and provide a brief review of reported neoplasms with TERT gene fusions.
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页数:6
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