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The first case of SMARCA4-deficient sarcoma of stomach

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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.

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Abbreviations

SOX2:

SRY (sex determining region Y)-box 2

SALL4:

Sal-like protein 4

CCNB3:

Cyclin B3

TLE-1:

Transducin-like enhancer protein 1

WT1:

Wilms tumor 1

HMB45:

Human melanoma black

NUT:

Nuclear protein in testis

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Correspondence to Takeshi Ishikawa.

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Competing interests

TI received scholarship fund from Nippon Kayaku Co. Ltd., and Shionogi Pharma Co. Ltd.. YI received scholarship fund from Shionogi Pharma Co. Ltd.. The other authors declare no competing interests.

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All procedures followed were in accordance with the ethical standards of the responsible committee on human experimentation (institutional and national) and with the Helsinki Declaration of 1964 and later versions. Informed consent to be included in the study, or the equivalent, was obtained from our patient.

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Informed consent was obtained from all patients for being included in the study

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Ota, T., Ishikawa, T., Yasuda, R. et al. The first case of SMARCA4-deficient sarcoma of stomach. Clin J Gastroenterol 15, 531–536 (2022). https://doi.org/10.1007/s12328-022-01606-8

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  • DOI: https://doi.org/10.1007/s12328-022-01606-8

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