The first case of SMARCA4-deficient sarcoma of stomach

Clin J Gastroenterol. 2022 Jun;15(3):531-536. doi: 10.1007/s12328-022-01606-8. Epub 2022 Feb 17.

Abstract

SMARCA4-deficient sarcoma was first reported in the chest and recently in the uterus, but not in the stomach. Here, we present a patient diagnosed with SMARCA4-deficient sarcoma of the stomach, using histochemistry. An emergency operation was performed due to perforation of the tumor. However, one month after the operation, two nodes recurred, and six cycles of combination chemotherapy consisting of adriamycin and ifosfamide were administered. The combination chemotherapy showed a remarkable effect, and complete remission was achieved. The patient was alive without recurrence after 48-month follow-up. SMARCA4-deficient sarcoma is an exceedingly rare tumor with an extremely poor therapeutic response to anticancer drugs. Herein, we present the first case of SMARCA4-deficient sarcoma of the stomach, where a complete response to chemotherapy was achieved.

Keywords: Immunohistochemical signature; SMARCA4-deficient sarcoma; Stomach; Undifferentiated round cell sarcoma.

Publication types

  • Case Reports

MeSH terms

  • Antineoplastic Agents* / therapeutic use
  • Biomarkers, Tumor
  • DNA Helicases
  • Female
  • Humans
  • Nuclear Proteins / genetics
  • Nuclear Proteins / therapeutic use
  • Sarcoma* / diagnosis
  • Sarcoma* / drug therapy
  • Sarcoma* / genetics
  • Stomach / pathology
  • Stomach Neoplasms* / metabolism
  • Transcription Factors / genetics
  • Transcription Factors / therapeutic use

Substances

  • Antineoplastic Agents
  • Biomarkers, Tumor
  • Nuclear Proteins
  • Transcription Factors
  • SMARCA4 protein, human
  • DNA Helicases