CASE REPORT article

Front. Oncol.

Sec. Cancer Genetics

Volume 15 - 2025 | doi: 10.3389/fonc.2025.1579574

This article is part of the Research TopicMolecular Studies and Therapeutic Approaches on BRCA-associated CancersView all 4 articles

Influence of BRCA1 germline mutation on treatment-related morbidity of a non-seminomatous germ cell tumor patient

Provisionally accepted
Bruno GrieslerBruno Griesler1,2*Susann SchulzeSusann Schulze3Thomas KegelThomas Kegel1Christine DierksChristine Dierks1Pablo Villavicencio-LoriniPablo Villavicencio-Lorini4Markus EszlingerMarkus Eszlinger5Haifa Al-AliHaifa Al-Ali3Nadja JäkelNadja Jäkel1
  • 1University Clinic and Outpatient Clinic for Internal Medicine IV, University Hospital in Halle, Halle, Germany
  • 2Institute of Molecular Medicine, Martin Luther University of Halle-Wittenberg, Halle, Saxony-Anhalt, Germany
  • 3Krukenberg Cancer Center Halle, University Hospital in Halle, Halle, Bavaria, Germany
  • 4Institute of Clinical Genetics, Brandenburg Medical School Theodor Fontane, Brandenburg an der Havel, Brandenburg, Germany
  • 5Institute of Pathology, University Hospital in Halle, Halle, Germany

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We present the case of a 47-year-old male with advanced non-seminomatous germ cell tumor, who was found to carry a heterozygous pathogenic BRCA1 germline variant following molecular testing due to a positive family history. While tumor analysis did not confirm loss of heterozygosity, evidence suggests that BRCA1 haploinsufficiency also increases genomic instability and cancer risk. After pre-phase treatment and the first cycle of chemotherapy, the patient developed prolonged pancytopenia leading to neutropenic sepsis. Subsequent cycles showed a shorter duration of pancytopenia, though it remained significant. A literature review indicates that BRCA1 deficiency may impair bone marrow recovery after chemotherapy, as observed in breast cancer patients, which we hypothesize also applies in this case. After first-line treatment, the patient had a partial response. In case of recurrence, the use of PARP inhibitors should be considered due to the BRCA1 deficiency.

Keywords: Hematotoxicity, chemotherapy - oncology, Neutropenia and fever, case report, BRCA1 mutation, GCT = germ cell tumor

Received: 19 Feb 2025; Accepted: 08 May 2025.

Copyright: © 2025 Griesler, Schulze, Kegel, Dierks, Villavicencio-Lorini, Eszlinger, Al-Ali and Jäkel. 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: Bruno Griesler, University Clinic and Outpatient Clinic for Internal Medicine IV, University Hospital in Halle, Halle, Germany

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