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BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.

Publication ,  Journal Article
Albright, BB; Wignall, E; Bentley, RC; Havrilesky, LJ; Previs, RA; Strickland, KC
Published in: Int J Gynecol Pathol
January 1, 2023

The BRCA1-associated protein 1 ( BAP1 ) gene encodes a tumor suppressor that functions as a ubiquitin hydrolase involved in DNA damage repair. BAP1 germline mutations are associated with increased risk of multiple solid malignancies, including mesothelioma, uveal melanoma, renal cell carcinoma, and high-grade rhabdoid meningiomas. Here, we describe the case of a 52-yr-old woman who experienced multiple abdominal recurrences of an ovarian sex cord-stromal tumor that was originally diagnosed at age 25 and who was found to have a germline mutation in BAP1 and a family history consistent with BAP1 tumor predisposition syndrome. Recurrence of the sex cord-stromal tumor demonstrated loss of BAP1 expression by immunohistochemistry. Although ovarian sex cord-stromal tumors have been described in mouse models of BAP1 tumor predisposition syndrome, this relationship has not been previously described in humans and warrants further investigation. The case presentation, tumor morphology, and immunohistochemical findings have overlapping characteristics with peritoneal mesotheliomas, and this case represents a potential pitfall for surgical pathologists.

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Published In

Int J Gynecol Pathol

DOI

EISSN

1538-7151

Publication Date

January 1, 2023

Volume

42

Issue

1

Start / End Page

83 / 88

Location

United States

Related Subject Headings

  • Uveal Neoplasms
  • Ubiquitin Thiolesterase
  • Tumor Suppressor Proteins
  • Sex Cord-Gonadal Stromal Tumors
  • Pathology
  • Ovarian Neoplasms
  • Neoplastic Syndromes, Hereditary
  • Mice
  • Mesothelioma
  • Meningeal Neoplasms
 

Citation

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Chicago
ICMJE
MLA
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Albright, B. B., Wignall, E., Bentley, R. C., Havrilesky, L. J., Previs, R. A., & Strickland, K. C. (2023). BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor. Int J Gynecol Pathol, 42(1), 83–88. https://doi.org/10.1097/PGP.0000000000000855
Albright, Benjamin B., Elizabeth Wignall, Rex C. Bentley, Laura J. Havrilesky, Rebecca A. Previs, and Kyle C. Strickland. “BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.Int J Gynecol Pathol 42, no. 1 (January 1, 2023): 83–88. https://doi.org/10.1097/PGP.0000000000000855.
Albright BB, Wignall E, Bentley RC, Havrilesky LJ, Previs RA, Strickland KC. BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor. Int J Gynecol Pathol. 2023 Jan 1;42(1):83–8.
Albright, Benjamin B., et al. “BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor.Int J Gynecol Pathol, vol. 42, no. 1, Jan. 2023, pp. 83–88. Pubmed, doi:10.1097/PGP.0000000000000855.
Albright BB, Wignall E, Bentley RC, Havrilesky LJ, Previs RA, Strickland KC. BAP1 Tumor Predisposition Syndrome Presenting as a Recurrent Ovarian Sex Cord-Stromal Tumor. Int J Gynecol Pathol. 2023 Jan 1;42(1):83–88.

Published In

Int J Gynecol Pathol

DOI

EISSN

1538-7151

Publication Date

January 1, 2023

Volume

42

Issue

1

Start / End Page

83 / 88

Location

United States

Related Subject Headings

  • Uveal Neoplasms
  • Ubiquitin Thiolesterase
  • Tumor Suppressor Proteins
  • Sex Cord-Gonadal Stromal Tumors
  • Pathology
  • Ovarian Neoplasms
  • Neoplastic Syndromes, Hereditary
  • Mice
  • Mesothelioma
  • Meningeal Neoplasms