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PHF1 Gene Rearrangement

MedGen UID:
1791416
•Concept ID:
C5554975
•
Cell or Molecular Dysfunction
Synonyms: PCL1 Gene Rearrangement; PHD Finger Protein 1 Gene Rearrangement; Polycomb-Like 1 Gene Rearrangement; TDRD19C Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the PHF1 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPHF1 Gene Rearrangement

Recent clinical studies

Etiology

Ossifying Fibromyxoid Tumor of the Genitourinary Tract: Report of 4 Molecularly Confirmed Cases of a Diagnostic Pitfall.
Argani P, Dickson BC, Gross JM, Matoso A, Baraban E, Antonescu CR
Am J Surg Pathol 2023 Jun 1;47(6):709-716. Epub 2023 Apr 6 doi: 10.1097/PAS.0000000000002036. PMID: 37026814Free PMC Article
Round cell tumor with a myxoid matrix harboring a PHF1-TFE3 fusion: Myoepithelial neoplasm or ossifying fibromyxoid tumor?
Fei F, Prieto Granada CN, Harada S, Siegal GP, Wei S
Pathol Res Pract 2021 Sep;225:153578. Epub 2021 Aug 4 doi: 10.1016/j.prp.2021.153578. PMID: 34391181
Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.
Sbaraglia M, Bellan E, Gambarotti M, Righi A, Zanatta L, Toffolatti L, Dei Tos AP
Pathologica 2020 Dec;112(4):184-190. Epub 2020 Nov 3 doi: 10.32074/1591-951X-207. PMID: 33179613Free PMC Article
Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.
Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD
Genes Chromosomes Cancer 2014 Feb;53(2):183-93. Epub 2013 Nov 28 doi: 10.1002/gcc.22132. PMID: 24285434Free PMC Article

Diagnosis

Ossifying Fibromyxoid Tumor of the Genitourinary Tract: Report of 4 Molecularly Confirmed Cases of a Diagnostic Pitfall.
Argani P, Dickson BC, Gross JM, Matoso A, Baraban E, Antonescu CR
Am J Surg Pathol 2023 Jun 1;47(6):709-716. Epub 2023 Apr 6 doi: 10.1097/PAS.0000000000002036. PMID: 37026814Free PMC Article
Primary malignant ossifying fibromyxoid tumour of the bone. A clinicopathologic and molecular report of two cases.
Sbaraglia M, Bellan E, Gambarotti M, Righi A, Zanatta L, Toffolatti L, Dei Tos AP
Pathologica 2020 Dec;112(4):184-190. Epub 2020 Nov 3 doi: 10.32074/1591-951X-207. PMID: 33179613Free PMC Article
Novel ZC3H7B-BCOR, MEAF6-PHF1, and EPC1-PHF1 fusions in ossifying fibromyxoid tumors--molecular characterization shows genetic overlap with endometrial stromal sarcoma.
Antonescu CR, Sung YS, Chen CL, Zhang L, Chen HW, Singer S, Agaram NP, Sboner A, Fletcher CD
Genes Chromosomes Cancer 2014 Feb;53(2):183-93. Epub 2013 Nov 28 doi: 10.1002/gcc.22132. PMID: 24285434Free PMC Article

Prognosis

Round cell tumor with a myxoid matrix harboring a PHF1-TFE3 fusion: Myoepithelial neoplasm or ossifying fibromyxoid tumor?
Fei F, Prieto Granada CN, Harada S, Siegal GP, Wei S
Pathol Res Pract 2021 Sep;225:153578. Epub 2021 Aug 4 doi: 10.1016/j.prp.2021.153578. PMID: 34391181

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