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BCOR Expression in Mullerian Adenosarcoma: A Potential Diagnostic Pitfall.

Vidarshi Muthukumarana1, Daniel J Fix2, Simona Stolnicu3

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The American Journal of Surgical Pathology
|February 4, 2020
PubMed
Summary
This summary is machine-generated.

BCOR protein expression is common in adenosarcomas, a rare uterine or ovarian tumor. Investigating BCOR or BCORL1 gene rearrangements is crucial for adenosarcomas showing BCOR expression.

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Area of Science:

  • Gynecologic Pathology
  • Molecular Pathology
  • Oncology

Background:

  • Adenosarcoma diagnosis can be challenging, sometimes mimicking high-grade endometrial stromal sarcoma.
  • ZC3H7B-BCOR fusion is associated with some high-grade endometrial stromal sarcomas and diffuse BCOR expression.

Purpose of the Study:

  • To determine the frequency of BCOR protein expression in a larger cohort of uterine and ovarian adenosarcomas.
  • To investigate the association between BCOR expression and genetic rearrangements (BCOR, BCORL1, NUTM1, ZC3H7B, JAZF1) in adenosarcomas.

Main Methods:

  • BCOR immunohistochemistry was performed on 13 adenosarcoma tissue samples.
  • Fluorescence in situ hybridization (FISH) was used to detect gene rearrangements in 11 cases.
  • Targeted RNA sequencing was performed on 3 cases.

Main Results:

  • BCOR expression was detected in 9 out of 13 (70%) adenosarcomas.
  • Diffuse BCOR expression was observed in both low-grade and high-grade tumors, with or without stromal overgrowth.
  • One tumor with extensive sex cord-like differentiation and diffuse BCOR expression showed JAZF1 and BCORL1 rearrangements; no other BCOR or BCORL1 rearrangements were found.

Conclusions:

  • BCOR protein expression is prevalent in most adenosarcomas, irrespective of stromal overgrowth.
  • BCORL1 rearrangement is rare in adenosarcomas with diffuse BCOR expression.
  • Testing for BCOR or BCORL1 rearrangement is recommended for adenosarcomas exhibiting BCOR expression.