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Targeted Next-Generation Sequencing in Succinate Dehydrogenase-Deficient GI Stromal Tumor Identifies Actionable Alterations in the PI3K/mTOR Pathway.
JCO Precis Oncol
January 2025
Sarcoma Translational Research Group, Vall d'Hebron Institute of Oncology (VHIO), Barcelona, Spain.
Purpose: Less than 5% of GI stromal tumors (GISTs) are driven by the loss of the succinate dehydrogenase (SDH) complex, resulting in a pervasive DNA hypermethylation pattern that leads to unique clinical features. Advanced SDH-deficient GISTs are usually treated with the same therapies targeting KIT and PDGFRA receptors as those used in metastatic GIST. However, these treatments display less activity in the absence of alternative therapeutic options.
View Article and Find Full Text PDF[Succinate Dehydrogenase-Deficient Renal Cell Carcinoma: Clinicopathological Analysis of 11 Cases].
Sichuan Da Xue Xue Bao Yi Xue Ban
September 2024
（ 610041） Department of Pathology, West China Hospital, Sichuan University, Chengdu 610041, China.
Objective: To investigate the clinicopathological features, immunophenotypes, molecular genetic alterations, and prognosis of succinate dehydrogenase-deficient renal cell carcinoma (SDH-RCC).
Methods: A total of 11 cases of SDH-RCC diagnosed at West China Hospital, Sichuan University between 2016 and 2023 were selected for clinicopathological, immunohistochemical, and DNA sequencing analyses.
Results: Among the 11 cases of SDH-RCC, there were 5 male patients and 6 female patients.
Advances in Molecular Mechanisms of Kidney Disease: Integrating Renal Tumorigenesis of Hereditary Cancer Syndrome.
Int J Mol Sci
August 2024
Department of Medical Oral and Biotechnological Science, Università degli Studi "G. d'Annunzio" of Chieti, 66100 Chieti, Italy.
Article Synopsis
- Renal cell carcinoma (RCC) consists of various subtypes with unique genetic changes, requiring tailored treatment approaches for each.
- A detailed review was performed of English language articles on the molecular mechanisms of kidney cancer, excluding non-original studies.
- Hereditary kidney cancer accounts for 5-8% of cases, linked to specific syndromes with genetic mutations that lead to tumor development and related symptoms, emphasizing the importance of understanding these mechanisms for early diagnosis and treatment options.
Succinate dehydrogenase A deficient renal cell carcinoma: A rare renal tumor distinct from typical Succinate dehydrogenase deficient renal cell carcinoma.
Pathol Res Pract
September 2024
Department of Pathology, The Affiliated Hospital of Qingdao University, Qingdao 266003, China. Electronic address:
Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare subtype of RCC classified as a molecularly defined RCC in the fifth edition of the WHO. Most gene alterations in patients with SDH-deficient RCC involve the SDHB subunit, with less involvement of the SDHC, SDHA, and SDHD subunits. Four cases of SDHA-deficient RCC have been reported in the literature, of which one case was associated with an NF2 gene mutation.
View Article and Find Full Text PDFA highly malignant succinate dehydrogenase A‑deficient renal cell carcinoma with bone metastasis misdiagnosed as hereditary leiomyomatosis and renal cell carcinoma: A case report.
Oncol Lett
August 2024
Department of Urology, Linyi People's Hospital, Linyi, Shandong 276000, P.R. China.
Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is an autosomal dominant syndrome caused by heterozygous pathogenic germline variants of the SDH gene. SDH mutations are associated with an increased risk of developing RCC, although studies describing SDH-deficient RCC are currently limited. The present study reported a case of SDH-deficient RCC with high malignancy and rare bone metastasis.
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