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FAM22

Monday 10 December 2012

Pathology

- Endometrial stromal sarcoma (ESS) characterized by YWHAE-FAM22 genetic fusion is histologically higher grade and clinically more aggressive than ESS with JAZF1-SUZ12 or equivalent genetic rearrangements, hence it is clinically important to recognize this subset of ESS.

  • Cyclin D1 is a sensitive and specific diagnostic immunomarker for YWHAE-FAM22 ESS. (22982899)
  • When evaluating high-grade uterine sarcomas, cyclin D1 can be included in the immunohistochemical panel as an indicator of YWHAE-FAM22 ESS. (22982899)

- YWHAE-FAM22 fusion gene in endometrial stromal sarcoma

References

- YWHAE-FAM22 endometrial stromal sarcoma: diagnosis by reverse transcription-polymerase chain reaction in formalin-fixed, paraffin-embedded tumor.
Isphording A, Ali RH, Irving J, Goytain A, Nelnyk N, Hoang LN, Gilks CB, Huntsman DG, Nielsen TO, Nucci MR, Lee CH.
Hum Pathol. 2013 May;44(5):837-43. doi : 10.1016/j.humpath.2012.08.007
PMID: 23159154

- Cyclin D1 as a Diagnostic Immunomarker for Endometrial Stromal Sarcoma With YWHAE-FAM22 Rearrangement. Lee CH, Ali RH, Rouzbahman M, Marino-Enriquez A, Zhu M, Guo X, Brunner AL, Chiang S, Leung S, Nelnyk N, Huntsman DG, Blake Gilks C, Nielsen TO, Cin PD, van de Rijn M, Oliva E, Fletcher JA, Nucci MR. Am J Surg Pathol. 2012 Oct;36(10):1562-1570. PMID: 22982899