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TFE3 Gene Rearrangement

MedGen UID:
1618180
•Concept ID:
C4524829
•
Cell or Molecular Dysfunction
Synonyms: bHLHe33 Gene Rearrangement; RCCP2 Gene Rearrangement; RCCX1 Gene Rearrangement; TFEA Gene Rearrangement; Transcription Factor Binding to IGHM Enhancer 3 Gene Rearrangement; Transcription Factor E3 Gene Rearrangement

Definition

A molecular abnormality indicating rearrangement of the TFE3 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTFE3 Gene Rearrangement

Professional guidelines

PubMed

Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: III: Molecular Pathology of Kidney Cancer.
Williamson SR, Gill AJ, Argani P, Chen YB, Egevad L, Kristiansen G, Grignon DJ, Hes O
Am J Surg Pathol 2020 Jul;44(7):e47-e65. doi: 10.1097/PAS.0000000000001476. PMID: 32251007Free PMC Article
Xp11 Translocation Renal Cell Carcinoma and the Mesenchymal Counterparts: An Evolving Concept with Novel Insights on Clinicopathologic Features, Prognosis, Treatment, and Classification.
Wang XT, Xia QY, Zhou XJ, Rao Q
Crit Rev Oncog 2017;22(5-6):481-497. doi: 10.1615/CritRevOncog.2017020558. PMID: 29604926
TFE3 translocation-associated perivascular epithelioid cell neoplasm (PEComa) of the gynecologic tract: morphology, immunophenotype, differential diagnosis.
Schoolmeester JK, Dao LN, Sukov WR, Wang L, Park KJ, Murali R, Hameed MR, Soslow RA
Am J Surg Pathol 2015 Mar;39(3):394-404. doi: 10.1097/PAS.0000000000000349. PMID: 25517951Free PMC Article

Recent clinical studies

Etiology

p53 aberration and TFE3 gene amplification may be predictors of adverse prognosis in epithelioid angiomyolipoma of the kidney.
Zhang Y, Wei X, Teng X, Chen G
Diagn Pathol 2023 Feb 6;18(1):14. doi: 10.1186/s13000-023-01298-9. PMID: 36740682Free PMC Article
TFE3-immunopositive papillary renal cell carcinoma: A clinicopathological, immunohistochemical, and genetic study.
Takamatsu D, Kohashi K, Kiyozawa D, Kinoshita F, Ieiri K, Baba M, Eto M, Oda Y
Pathol Res Pract 2023 Feb;242:154313. Epub 2023 Jan 16 doi: 10.1016/j.prp.2023.154313. PMID: 36669395
Malignant TFE3-rearranged perivascular epithelioid cell neoplasm (PEComa) presenting as a subcutaneous mass.
Shon W, Kim J, Sukov W, Reith J
Br J Dermatol 2016 Mar;174(3):617-20. Epub 2015 Nov 24 doi: 10.1111/bjd.14173. PMID: 26385848
Novel YAP1-TFE3 fusion defines a distinct subset of epithelioid hemangioendothelioma.
Antonescu CR, Le Loarer F, Mosquera JM, Sboner A, Zhang L, Chen CL, Chen HW, Pathan N, Krausz T, Dickson BC, Weinreb I, Rubin MA, Hameed M, Fletcher CD
Genes Chromosomes Cancer 2013 Aug;52(8):775-84. Epub 2013 Jun 5 doi: 10.1002/gcc.22073. PMID: 23737213Free PMC Article
Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.
Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M
Am J Surg Pathol 2003 Jun;27(6):750-61. doi: 10.1097/00000478-200306000-00005. PMID: 12766578

Diagnosis

Application of TFE3 Immunophenotypic and TFE3 mRNA Expressions in Diagnosis and Prognostication of Adrenal Cortical Neoplasms and Distinction From Kidney Tumors.
Wang X, Ng CS, Yin W, Liang L
Appl Immunohistochem Mol Morphol 2023 Jan 1;31(1):9-16. Epub 2022 Nov 21 doi: 10.1097/PAI.0000000000001090. PMID: 36476598
Perivascular Epithelioid Cell Tumor of Urinary Bladder.
Wu YL, Lang L, Ma Q, Wu F, Zhang Y, Chen W, Yan XC, Duan GJ
Am J Clin Pathol 2021 Jun 17;156(1):56-71. doi: 10.1093/ajcp/aqaa204. PMID: 33336255
ALK rearrangement in TFE3-positive renal cell carcinoma: Alternative diagnostic option to exclude Xp11.2 translocation carcinoma.
Zhu Y, Liu N, Guo W, Pu X, Guo H, Gan W, Li D
Pathol Res Pract 2020 Dec;216(12):153286. Epub 2020 Nov 9 doi: 10.1016/j.prp.2020.153286. PMID: 33197836
Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement.
Xia QY, Wang Z, Chen N, Gan HL, Teng XD, Shi SS, Wang X, Wei X, Ye SB, Li R, Ma HH, Lu ZF, Zhou XJ, Rao Q
Mod Pathol 2017 Mar;30(3):416-426. Epub 2016 Dec 9 doi: 10.1038/modpathol.2016.204. PMID: 27934879
MiT Family Translocation-Associated Renal Cell Carcinoma: A Contemporary Update With Emphasis on Morphologic, Immunophenotypic, and Molecular Mimics.
Magers MJ, Udager AM, Mehra R
Arch Pathol Lab Med 2015 Oct;139(10):1224-33. doi: 10.5858/arpa.2015-0196-RA. PMID: 26414466

Prognosis

p53 aberration and TFE3 gene amplification may be predictors of adverse prognosis in epithelioid angiomyolipoma of the kidney.
Zhang Y, Wei X, Teng X, Chen G
Diagn Pathol 2023 Feb 6;18(1):14. doi: 10.1186/s13000-023-01298-9. PMID: 36740682Free PMC Article
TFE3-immunopositive papillary renal cell carcinoma: A clinicopathological, immunohistochemical, and genetic study.
Takamatsu D, Kohashi K, Kiyozawa D, Kinoshita F, Ieiri K, Baba M, Eto M, Oda Y
Pathol Res Pract 2023 Feb;242:154313. Epub 2023 Jan 16 doi: 10.1016/j.prp.2023.154313. PMID: 36669395
Application of TFE3 Immunophenotypic and TFE3 mRNA Expressions in Diagnosis and Prognostication of Adrenal Cortical Neoplasms and Distinction From Kidney Tumors.
Wang X, Ng CS, Yin W, Liang L
Appl Immunohistochem Mol Morphol 2023 Jan 1;31(1):9-16. Epub 2022 Nov 21 doi: 10.1097/PAI.0000000000001090. PMID: 36476598
Perivascular Epithelioid Cell Tumor of Urinary Bladder.
Wu YL, Lang L, Ma Q, Wu F, Zhang Y, Chen W, Yan XC, Duan GJ
Am J Clin Pathol 2021 Jun 17;156(1):56-71. doi: 10.1093/ajcp/aqaa204. PMID: 33336255
Xp11.2 translocation renal cell carcinoma with NONO-TFE3 gene fusion: morphology, prognosis, and potential pitfall in detecting TFE3 gene rearrangement.
Xia QY, Wang Z, Chen N, Gan HL, Teng XD, Shi SS, Wang X, Wei X, Ye SB, Li R, Ma HH, Lu ZF, Zhou XJ, Rao Q
Mod Pathol 2017 Mar;30(3):416-426. Epub 2016 Dec 9 doi: 10.1038/modpathol.2016.204. PMID: 27934879

Clinical prediction guides

p53 aberration and TFE3 gene amplification may be predictors of adverse prognosis in epithelioid angiomyolipoma of the kidney.
Zhang Y, Wei X, Teng X, Chen G
Diagn Pathol 2023 Feb 6;18(1):14. doi: 10.1186/s13000-023-01298-9. PMID: 36740682Free PMC Article
TFE3-immunopositive papillary renal cell carcinoma: A clinicopathological, immunohistochemical, and genetic study.
Takamatsu D, Kohashi K, Kiyozawa D, Kinoshita F, Ieiri K, Baba M, Eto M, Oda Y
Pathol Res Pract 2023 Feb;242:154313. Epub 2023 Jan 16 doi: 10.1016/j.prp.2023.154313. PMID: 36669395
ALK rearrangement in TFE3-positive renal cell carcinoma: Alternative diagnostic option to exclude Xp11.2 translocation carcinoma.
Zhu Y, Liu N, Guo W, Pu X, Guo H, Gan W, Li D
Pathol Res Pract 2020 Dec;216(12):153286. Epub 2020 Nov 9 doi: 10.1016/j.prp.2020.153286. PMID: 33197836
Nuclear Expression of CAMTA1 Distinguishes Epithelioid Hemangioendothelioma From Histologic Mimics.
Doyle LA, Fletcher CD, Hornick JL
Am J Surg Pathol 2016 Jan;40(1):94-102. doi: 10.1097/PAS.0000000000000511. PMID: 26414223
Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay.
Argani P, Lal P, Hutchinson B, Lui MY, Reuter VE, Ladanyi M
Am J Surg Pathol 2003 Jun;27(6):750-61. doi: 10.1097/00000478-200306000-00005. PMID: 12766578

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