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Case Reports: Rare disease
Somatic gene mutations in malignant steroid cell tumours and response to multiple treatments
  1. Kazuho Nakanishi1,
  2. Tomoaki Fukagawa1,
  3. Takashi Yamada1 and
  4. Shunji Suzuki2
  1. 1Obstetrics and Gynecology, Nippon Medical School Chiba Hokusoh Hospital, Inzai-shi, Japan
  2. 2Obstetrics and Gynecology, Nippon Medical School Hospital, Bunkyo-ku, Japan
  1. Correspondence to Dr Kazuho Nakanishi; knakanishi{at}nms.ac.jp

Abstract

Malignant ovarian steroid cell tumours are a rare subgroup of sex cord-stromal tumours. There are no systematic reviews on the associated treatments, and little is known about their genomic profile. We describe a case of a pelvic malignant ovarian steroid cell tumour in a premenopausal woman in her 40s. She received cytoreductive surgery and six cycles of paclitaxel+carboplatin+bevacizumab. After recurrence, the tumour was surgically removed again, followed by radiation and hormone blockade therapy. Complete remission was achieved after treatment with bleomycin, etoposide and cisplatin. She remained in a platinum-sensitive relapse state and subsequently received maintenance therapy with olaparib. Since the tumour was initially refractory to treatment, tissue specimens were screened for gene mutations using a next-generation sequencing oncology panel and a somatic variant detection system, which revealed somatic gene mutations in ARID1A, PIK3CA, TERT and ATM, some of which are involved in DNA repair.

  • Gynecological cancer
  • Genetic screening / counselling

http://dx.doi.org/10.1136/bcr-2021-248486

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    Footnotes

    • Contributors KN: conducted the study and wrote the manuscript. TF: critically examined the manuscript. TY: critically examined the manuscript. SS: critically examined the manuscript.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.