Recurrence of fusocellular subtype GIST with SDHB mutation: A case of SDHB‐loss and therapeutic challenges

Gastrointestinal stromal tumors (GISTs) are sarcomas affecting the stomach and small intestine, with a rare subtype characterized by succinate dehydrogenase B (SDHB)‐loss posing significant diagnostic and therapeutic challenges. A 62‐year‐old man with weight loss and abdominal pain was diagnosed wit...

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Bibliographic Details
Published in:Journal of surgical oncology 2024-09, Vol.130 (4), p.741-742
Main Authors: Silva Gomes, Samuel, Oliveira, Carolina S., Furtado, Thiago de Almeida, Melo, Lara M., Santos, Sara G., Braga, Renata S. N., Martins, Eduarda M. T. G., Gomes, João P. dos Santos
Format: Article
Language:English
Subjects:
Antineoplastic Agents - therapeutic use
Gastrointestinal Neoplasms - drug therapy
Gastrointestinal Neoplasms - genetics
Gastrointestinal Neoplasms - pathology
gastrointestinal stromal tumor (GIST)
Gastrointestinal Stromal Tumors - drug therapy
Gastrointestinal Stromal Tumors - genetics
Gastrointestinal Stromal Tumors - pathology
Humans
Imatinib Mesylate - therapeutic use
Male
Middle Aged
Mutation
Neoplasm Recurrence, Local - drug therapy
Neoplasm Recurrence, Local - genetics
Neoplasm Recurrence, Local - pathology
SDHB mutation
Stomach Neoplasms - drug therapy
Stomach Neoplasms - genetics
Stomach Neoplasms - pathology
Succinate Dehydrogenase - genetics
surgical management
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Summary:Gastrointestinal stromal tumors (GISTs) are sarcomas affecting the stomach and small intestine, with a rare subtype characterized by succinate dehydrogenase B (SDHB)‐loss posing significant diagnostic and therapeutic challenges. A 62‐year‐old man with weight loss and abdominal pain was diagnosed with a gastric GIST showing SDHB‐loss. Initial treatment with Imatinib reduced the tumor size, but surgery revealed no residual tumor. Despite adjuvant Imatinib, recurrence occurred, necessitating further surgical intervention. While GISTs typically benefit from surgery and tyrosine kinase inhibitors (TKIs), those with SDHB‐loss are resistant to TKIs, requiring a different management approach. This case emphasizes the importance of surgical intervention for SDHB‐deficient GISTs and the need for ongoing research into effective treatments for this subtype.
ISSN:0022-4790
1096-9098
1096-9098
DOI:10.1002/jso.27727