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

Gandhi, Jatin S.
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机构:
Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA USA Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA USA

Deeb, Kristin K.
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Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA USA Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA USA

Chen, Eleanor Y.
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Univ Washington, Dept Lab Med & Pathol, 1959 NE Pacific St,POB 356100, Seattle, WA 98195 USA Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA USA

Bandhlish, Anshu
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机构:
Univ Washington, Dept Lab Med & Pathol, 1959 NE Pacific St,POB 356100, Seattle, WA 98195 USA Emory Univ, Sch Med, Dept Pathol & Lab Med, Atlanta, GA USA
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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