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TFE3-associated tumors

Monday 27 August 2012

Xp11 translocation cancers include Xp11 translocation renal cell carcinoma (RCC), Xp11 translocation perivascular epithelioid cell tumor (PEComa), and melanotic Xp11 translocation renal cancer. In Xp11 translocation cancers, oncogenic activation of TFE3 is driven by the fusion of TFE3 with a number of different gene partners.

Despite an identical gene fusion, the RCCs are distinct from the corresponding mesenchymal neoplasms, perhaps due to the cellular context in which the translocation occurs.

The PRCC-TFE3 RCCs are the only known Xp11 translocation RCC molecular subtype that are consistently cathepsin K positive.


- TFE3-associated renal cell carcinoma
- TFE3-associated PEComa
- TFE3-associated melanotic ovarian tumor (Melanotic Xp11.2 neoplasm of the ovary) (22895274)

- YAP1-TFE3 fusion gene in a small subset (@<@5%) of epithelioid hemangioendothelioma (EHE)

  • Epithelioid hemangioendothelioma (EHE) is a malignant endothelial neoplasm characterized by recurrent translocations involving chromosomal regions 1p36.3 and 3q25, resulting in the formation of a WWTR1-CAMTA1 fusion gene in approximately 90% of cases.
  • A WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. (21584898)

Open references

- 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. doi : 10.1002/gcc.22073 PMID: 23737213 Free


- TFE3 RCC, typical architecture with pasammoma bodies

- cystic Xp11-associated RCC

Paywall Reference

- TFE3-Fusion Variant Analysis Defines Specific Clinicopathologic Associations Among Xp11 Translocation Cancers. Argani P, Zhong M, Reuter VE, Fallon JT, Epstein JI, Netto GJ, Antonescu CR. Am J Surg Pathol. 2016 Jun;40(6):723-37. doi : 10.1097/PAS.0000000000000631 PMID: 26975036

- Melanotic Xp11.2 neoplasm of the ovary: report of a unique case. Legallo RD, Stelow EB, Sukov WR, Duska LR, Alisanski SB, Folpe AL. Am J Surg Pathol. 2012 Sep;36(9):1410-4. PMID: 22895274