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CASE REPORT article

Front. Oncol.

Sec. Cancer Immunity and Immunotherapy

Volume 15 - 2025 | doi: 10.3389/fonc.2025.1549232

This article is part of the Research Topic The Application of Immune Checkpoint Inhibitors Combined with Chemotherapy in Tumor Immunotherapy View all 6 articles

Case report: metastatic succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor treated with chemotherapy and immune checkpoint inhibitor

Provisionally accepted
  • 1 Institut de Cancérologie de Lorraine, Vandœuvre-lès-Nancy, France
  • 2 Hôpital Robert Schuman, Metz, Lorraine, France
  • 3 Centre Léon Bérard, Lyon, Rhône-Alpes, France
  • 4 UniCancer Group, Paris, France

The final, formatted version of the article will be published soon.

    We report a young adult with a recurrent metastatic succinate dehydrogenase (SDH)-deficient gastrointestinal stromal tumor (GIST) achieving a pathological complete response with a chemo-immunotherapy regimen. The patient underwent a gastroscopy, which revealed a large-ulcerated tumor on the greater gastric curvature. Histological analysis showed a poorly differentiated SDHB-deficient GIST with PDL1 expression at 100% rate, and a RET gene fusion.Rapid metastatic relapse after subtotal gastrectomy was resistant to imatinib. The patient received 4 cycles of cisplatin, etoposide and pembrolizumab followed by pembrolizumab maintenance with a complete response. Late relapse three years later was treated with the same regimen and achieved complete pathological response. Two years later, an isolated focus was removed showing the recurrent SDH-deficient GIST. Pembrolizumab is still in maintenance with no relapse to date. The role of chemo-immunotherapy as part of treatment in recurrent metastatic SDH-deficient, PDL1 positive GIST patient is worth further investigation.

    Keywords: GIST - gastrointestinal stromal tumor, immunotherapy combined therapy, chemotherapy - oncology, Young Adult, long responders, complete response (CR)

    Received: 20 Dec 2024; Accepted: 11 Feb 2025.

    Copyright: © 2025 Claessens, Plaza and Blay. 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: Arthur Claessens, Institut de Cancérologie de Lorraine, Vandœuvre-lès-Nancy, France

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