Treatment for SMARCA4-deficient carcinoma of uterine cervix

BMJ Case Rep. 2025 Jan 4;18(1):e258711. doi: 10.1136/bcr-2023-258711.

Abstract

SMARCA4-deficient undifferentiated cervical carcinoma is an extremely rare and aggressive malignancy, and effective treatment options are lacking. We experienced a rare case involving a patient with SMARCA4-deficient undifferentiated cervical carcinoma who was successfully managed in the long term. A woman in her 40s presented with a chief complaint of abnormal vaginal bleeding. A cervical biopsy revealed adenocarcinoma; thus, radical hysterectomy was performed with R0 tumour resection. Histopathological examination of the resected tumour showed rhabdoid features under (H&E) staining and negativity for SMARCA4 under immunohistochemical staining. Given the poor prognosis associated with SMARCA4-deficient carcinoma, adjuvant radiotherapy was added. Follow-up for more than a year revealed no evidence of recurrence. For undifferentiated cervical carcinoma with rhabdoid features on H&E staining, SMARCA4 immunostaining may be considered for risk classification and recurrence prevention. R0 resection and postoperative adjuvant radiotherapy may contribute to a good prognosis for patients with SMARCA4-deficient carcinoma.

Keywords: Gynecological cancer; Pathology.

Publication types

  • Case Reports

MeSH terms

  • Adenocarcinoma / pathology
  • Adenocarcinoma / therapy
  • Adult
  • DNA Helicases* / deficiency
  • DNA Helicases* / genetics
  • Female
  • Humans
  • Hysterectomy*
  • Nuclear Proteins* / deficiency
  • Nuclear Proteins* / genetics
  • Radiotherapy, Adjuvant
  • Transcription Factors* / deficiency
  • Transcription Factors* / genetics
  • Uterine Cervical Neoplasms* / pathology
  • Uterine Cervical Neoplasms* / therapy

Substances

  • SMARCA4 protein, human
  • DNA Helicases
  • Transcription Factors
  • Nuclear Proteins