Multiple Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors of the Stomach: A Case Report

BACKGROUND Gastrointestinal stromal tumors (GISTs) are a rare subset of gastrointestinal neoplasms, with approximately 85% of cases being characterized by genetic alterations in either the KIT gene or the platelet-derived growth factor receptor alpha (PDGFRA) gene. In contrast, succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GIST) account for only 5-10% of cases. SDH-deficient GISTs is a rare form of gastrointestinal tumor, predominantly affecting young people and women. It typically presents with multifocal lesions, has a tendency to invade lymph nodes, follows an indolent course, and is poorly responsive to imatinib; sunitinib and regorafenib may be effective against it. For patients with resectable lesions, surgical intervention remains the cornerstone of treatment. CASE REPORT A 26-year-old male patient was admitted with the presenting symptom of melena. Subsequent diagnostic evaluations revealed the presence of multiple gastric neoplasms. He underwent laparoscopic distal gastrectomy for multiple gastric tumors and postoperative pathology was consistent with GIST, SDH-deficient type. Genetic testing for KIT, PDGFRA, KRAS, NRAS, BRAF, SDHA, SDHB, SDHC, SDHD, and NF1 showed no mutations. The patient is still being followed and no evidence of relapse has been found 6 months postoperatively. CONCLUSIONS Although SDH-deficient GISTs generally exhibit indolent biological behavior, clinically significant manifestations such as gastrointestinal bleeding, as observed in this case, occasionally occur. The postoperative resolution of hemorrhagic symptoms in this patient demonstrated the therapeutic efficacy of surgical intervention. This case underscores the importance of timely surgical management while highlighting the need for improved diagnostic precision and optimized treatment algorithms. The present report provides valuable clinical insights for prognostic evaluation and clinical decision-making in SDH-deficient GISTs, while also offering a reference for future investigations into novel targeted therapies.

Authors

Institutions

Publication Details

Journal
American Journal of Case Reports
Published
2025-04-02
DOI
https://doi.org/10.12659/ajcr.947545
Primary Topic
Gastrointestinal Tumor Research and Treatment
Type
article
Field-Weighted Citation Impact
0.00
Controls
|||
ALL TIME
JAN
FEB
MAR
APR
MAY
JUN
JUL
AUG
SEP
OCT
article

Multiple Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors of the Stomach: A Case Report

Pan Nie, Xinxi Yang, Pengsen Guo, Yanjun Liu et al.
American Journal of Case Reports
Gastrointestinal Tumor Research and Treatment
article

Multiple Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumors of the Stomach: A Case Report

Pan Nie, Xinxi Yang, Pengsen Guo, Yanjun Liu, Yuanyuan Chen, Peng Yang, Yingxin Wu
article en

Abstract

BACKGROUND Gastrointestinal stromal tumors (GISTs) are a rare subset of gastrointestinal neoplasms, with approximately 85% of cases being characterized by genetic alterations in either the KIT gene or the platelet-derived growth factor receptor alpha (PDGFRA) gene. In contrast, succinate dehydrogenase-deficient gastrointestinal stromal tumors (SDH-deficient GIST) account for only 5-10% of cases. SDH-deficient GISTs is a rare form of gastrointestinal tumor, predominantly affecting young people and women. It typically presents with multifocal lesions, has a tendency to invade lymph nodes, follows an indolent course, and is poorly responsive to imatinib; sunitinib and regorafenib may be effective against it. For patients with resectable lesions, surgical intervention remains the cornerstone of treatment. CASE REPORT A 26-year-old male patient was admitted with the presenting symptom of melena. Subsequent diagnostic evaluations revealed the presence of multiple gastric neoplasms. He underwent laparoscopic distal gastrectomy for multiple gastric tumors and postoperative pathology was consistent with GIST, SDH-deficient type. Genetic testing for KIT, PDGFRA, KRAS, NRAS, BRAF, SDHA, SDHB, SDHC, SDHD, and NF1 showed no mutations. The patient is still being followed and no evidence of relapse has been found 6 months postoperatively. CONCLUSIONS Although SDH-deficient GISTs generally exhibit indolent biological behavior, clinically significant manifestations such as gastrointestinal bleeding, as observed in this case, occasionally occur. The postoperative resolution of hemorrhagic symptoms in this patient demonstrated the therapeutic efficacy of surgical intervention. This case underscores the importance of timely surgical management while highlighting the need for improved diagnostic precision and optimized treatment algorithms. The present report provides valuable clinical insights for prognostic evaluation and clinical decision-making in SDH-deficient GISTs, while also offering a reference for future investigations into novel targeted therapies.

American Journal of Case ReportsVol. 26
Third People's Hospital of Chengdu (CN), Southwest Jiaotong University (CN)
Zero hunger
Openalex Percentile: Top 89%
Gastrointestinal Tumor Research and Treatment
AI Navigator

Ask Laika to Summarize, Analyze, and Connect papers live on the map.

Summarize Papers & Methodologies

Extract key findings, datasets, and comparative methods across publications.

Benchmark Rankings & Visual Analytics

Rank top research institutions, authors, funders, topics, and journals by Field-Weighted Citation Impact (FWCI) and paper volume with instant charts.

Connect Distant Disciplines

Bridge topological clusters on the map to find hidden collaborative intersections.