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CASE REPORT article

Front. Oncol.
Sec. Gynecological Oncology
Volume 14 - 2024 | doi: 10.3389/fonc.2024.1472725
This article is part of the Research Topic Prognostic Biomarkers and Gene Signatures in Endometrial, Ovarian, and Cervical Cancer View all articles

High grade serous fallopian tube carcinoma with rare NRG1 gene fusion presenting as widespread peritoneal carcinomatosis

Provisionally accepted
Anthony Crymes Anthony Crymes 1Mark G. Evans Mark G. Evans 2*Jack Reid Jack Reid 3Ifegwu O. Ibe Ifegwu O. Ibe 4Matthew J. Oberley Matthew J. Oberley 2Jill H. Tseng Jill H. Tseng 4
  • 1 Keck School of Medicine, University of Southern California, Los Angeles, California, United States
  • 2 Caris Life Sciences Inc., Irving, United States
  • 3 City of Hope National Medical Center, Duarte, California, United States
  • 4 School of Medicine, University of California, Irvine, Irvine, California, United States

The final, formatted version of the article will be published soon.

    The discovery of gene fusions involving Neuregulin-1 (NRG1) within solid tumors has important therapeutic implications, as they are being actively explored as targets for emerging ERBB/ERBB2/ERBB3-directed anti-cancer agents. NRG1 fusions are very uncommon across all tumor types and are infrequently documented in the medical literature. We report a female patient presenting with widespread peritoneal carcinomatosis diagnosed as high grade serous fallopian tube carcinoma, which harbored a previously undescribed MYH10::NRG1 fusion. Moreover, we queried the whole transcriptome sequencing results of neoplasms analyzed by a commercial laboratory (Caris Life Sciences) to determine the overall incidence of NRG1 fusions in carcinomas of the ovary, fallopian tube, and peritoneum (0.18%). Twenty-five additional tumors were found to demonstrate NRG1 fusions, including 20 new genes partners that had not been previously identified in gynecologic carcinomas. Overall, NRG1 fusion events are rare in ovarian, fallopian tube, and primary peritoneal carcinomas, but they may carry diagnostic significance in the context of borderline/low grade serous tumors, which demonstrated exclusively CLU::NRG1 fusions, and could have important predictive implications for response to ERBB/ERBB2/ERBB3-directed therapies.

    Keywords: NRG1 gene fusion, ovarian cancer, Fallopian tube cancer, Primary peritoneal cancer, Serous carcinoma

    Received: 29 Jul 2024; Accepted: 14 Oct 2024.

    Copyright: © 2024 Crymes, Evans, Reid, Ibe, Oberley and Tseng. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Mark G. Evans, Caris Life Sciences Inc., Irving, United States

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.