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EWSR1-SMAD3-Positive Fibroblastic Tumor

MedGen UID:
1780867
Concept ID:
C5447671
Neoplastic Process
Synonyms: EWSR1-SMAD3-Rearranged Fibroblastic Tumor; EWSR1::SMAD3-Positive Fibroblastic Tumor

Definition

A benign fibroblastic neoplasm characterized by a fusion of exon 7 of EWSR1 gene with exon 5 of SMAD3 gene. Patients usually present with a small painless superficial tumor in the hands and feet. Morphologically, there is zonation with acellular hyalinized center and peripheral proliferation of fibroblastic spindle cells without atypia. It may recur following incomplete excision. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVEWSR1-SMAD3-Positive Fibroblastic Tumor

Recent clinical studies

Diagnosis

Foot O, Hallin M, Jones RL, Sumathi VP, Thway K
Int J Surg Pathol 2021 Apr;29(2):179-181. Epub 2020 Jul 3 doi: 10.1177/1066896920938124. PMID: 32615834

Prognosis

Zhao L, Sun M, Lao IW, Yu L, Wang J
Exp Mol Pathol 2019 Oct;110:104291. Epub 2019 Jul 31 doi: 10.1016/j.yexmp.2019.104291. PMID: 31376366

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