Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor With <i>SDHC</i> Germline Mutation and Bilateral Renal and Neck Cysts

Stanley, Kaitlin; Friehling, Erika; Davis, Anne Sally; Ranganathan, Sarangarajan

doi:10.1177/1093526618805354

Cited by 3 publications

(5 citation statements)

References 15 publications

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“…Aberrant TCA cycle function is implicated in a wide variety of pathological processes such as obesity. Moreover, several TCA cycle enzymes are deregulated in cancer (Figure 3) [63][64][65][66][67][68][69][70][71][72][73][74][75][76][77][78][79][80][81][82]. tumour cells, which require a continuous supply of small metabolites for the synthesis of proteins, nucleic acids, and lipids.…”

Section: Introductionmentioning

confidence: 99%

“…Aberrant TCA cycle function is implicated in a wide variety of pathological processes such as obesity. Moreover, several TCA cycle enzymes are deregulated in cancer (Figure 3) [63][64][65][66][67][68][69][70][71][72][73][74][75][76][77][78][79][80][81][82]. The electron transport chain (ETC) controls combustion, which generates energy to be used to drive the oxidation of NADH, which produces three ATP molecules and FADH2 (which produces two ATP molecules) at the expense of reducing oxygen.…”

Section: Introductionmentioning

confidence: 99%

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Energy Metabolism in Cancer: The Roles of STAT3 and STAT5 in the Regulation of Metabolism-Related Genes

Valle‐Mendiola¹,

Soto‐Cruz²

2020

Cancers

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A central characteristic of many types of cancer is altered energy metabolism processes such as enhanced glucose uptake and glycolysis and decreased oxidative metabolism. The regulation of energy metabolism is an elaborate process involving regulatory proteins such as HIF (pro-metastatic protein), which reduces oxidative metabolism, and some other proteins such as tumour suppressors that promote oxidative phosphorylation. In recent years, it has been demonstrated that signal transducer and activator of transcription (STAT) proteins play a pivotal role in metabolism regulation. STAT3 and STAT5 are essential regulators of cytokine- or growth factor-induced cell survival and proliferation, as well as the crosstalk between STAT signalling and oxidative metabolism. Several reports suggest that the constitutive activation of STAT proteins promotes glycolysis through the transcriptional activation of hypoxia-inducible factors and therefore, the alteration of mitochondrial activity. It seems that STAT proteins function as an integrative centre for different growth and survival signals for energy and respiratory metabolism. This review summarises the functions of STAT3 and STAT5 in the regulation of some metabolism-related genes and the importance of oxygen in the tumour microenvironment to regulate cell metabolism, particularly in the metabolic pathways that are involved in energy production in cancer cells.

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Section: Introductionmentioning

confidence: 99%

“…Aberrant TCA cycle function is implicated in a wide variety of pathological processes such as obesity. Moreover, several TCA cycle enzymes are deregulated in cancer (Figure 3) [63][64][65][66][67][68][69][70][71][72][73][74][75][76][77][78][79][80][81][82]. The electron transport chain (ETC) controls combustion, which generates energy to be used to drive the oxidation of NADH, which produces three ATP molecules and FADH2 (which produces two ATP molecules) at the expense of reducing oxygen.…”

Section: Introductionmentioning

confidence: 99%

Energy Metabolism in Cancer: The Roles of STAT3 and STAT5 in the Regulation of Metabolism-Related Genes

Valle‐Mendiola¹,

Soto‐Cruz²

2020

Cancers

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“…In this paper, we reported a typical case of CSS with bladder PGL and SDH-deficient GIST. A total of 39 case reports of Carney-Stratakis syndrome between 2002 and 2022 were retrieved from the PubMed database using the keywords "Carney-Stratakis syndrome" and "Carney-Stratakis", with an average age of 25 years (9-59 years), including 21 male patients (53.8%) and 18 female patients (46.2%) (1,5,(17)(18)(19)(20)(21)(22)(23)(24)(25)(26)(27)(28)(29)(30). In the 39 cases, 37 (94.9%) patients developed PGL, 29 (74.4%) patients developed GIST, and 26 (66.7%) patients had concurrent PGL and GIST.…”

Section: Discussionmentioning

confidence: 99%

“…29,34.5%) patients had GIST lymph node or distant metastasis, and four of them had GIST recurrence after primary tumor resection. Of the 37 patients with PGL, 21 (56.8%) had systemic multiple PGLs, with the most common sites including bilateral paracarotid, paraaortic, bilateral adrenal glands, and mediastinum.…”

mentioning

confidence: 99%

Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review

Shi

Ding²,

Mo³

et al. 2022

Front. Oncol.

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BackgroundCarney-Stratakis syndrome (CSS) is a rare dyad of paraganglioma (PGL)/pheochromocytoma (PHEO) and gastrointestinal stromal tumor (GIST). PGLs are neuroendocrine tumors of neural crest origin which are mostly found in the head, neck, and retroperitoneal space. GISTs are the most common mesenchymal tumors of the digestive tract, usually caused by KIT/PDGFRA mutations. Here, we reported a case of CSS with unusual bladder PGL and succinate dehydrogenase (SDH) deficient GIST due to a germline mutation in SDH-subunit B (SDHB) gene.Case presentationA 39-year-old female patient initially diagnosed with gastric GIST and isolated pelvic metastasis was eventually found to be CSS with bladder PGL and SDH-deficient GIST after surgery. This patient underwent resection of gastric and bladder tumors, and postoperative pathology confirmed the diagnosis of CSS. According to the next-generation sequencing (NGS), the patient carried a germline mutation in the SDHB gene, which was the cause of the disorder. The patient had no tumor recurrence with regular follow-up in 10 months.ConclusionsCSS is an autosomal genetic disorder with no gender difference in incidence, and PGLs are more frequent than GISTs. SDH germline mutation is the molecular biological mechanism of CSS while the most common type is SDHB mutation. The unique mechanism of tumorigenesis including hypoxia and hypermethylation caused by SDH deficiency renders target therapy with tyrosine kinase inhibitors ineffective, therefore complete surgical resection is the optimal treatment in the absence of tumor metastases.

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“…About 1-5% of SDHB or SDHD mutation carriers have been established to show RCCs, which is another presentation of Codewn syndrome (11). Moreover, negative IHC for SDHB suggests mitochondrial dysfunction despite the subunit involved (90). The lack of SDHB staining recognizes neuroendocrine tumors linked with mitochondrial enzyme mutations and can be used to select proper patients for further evaluation and follow-up (63,91).…”

Section: Renal Cell Carcinomamentioning

confidence: 99%

Succinate as an Oncometabolite in Endocrine, Mesenchymal, and Epithelial Tumors

2022

ircmj

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Succinate dehydrogenase (SDH) is a multifaceted enzyme for the mitochondria of eukaryotes, which is responsible for converting succinate to fumarate as a component in the Krebs cycle. Its dysfunction occurs in several malignancies associated with endocrine and epithelial tumors. SDH is an enzymatic complex made of some subunits. Succinate is recognized as an oncometabolite; therefore, the discovery of SDH mutations can give a straight connection between the changes of succinate and tumorigenesis. Progresses in laboratory technologies made it possible to make profiles of and identify succinate accumulation in several types of cancer. In this study, we reviewed the potential roles of SDH mutation and alteration of succinate in tumorigenesis and as tumor markers for the early detection of malignancies.

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Succinate Dehydrogenase-Deficient Gastrointestinal Stromal Tumor With SDHC Germline Mutation and Bilateral Renal and Neck Cysts

Cited by 3 publications

References 15 publications

Energy Metabolism in Cancer: The Roles of STAT3 and STAT5 in the Regulation of Metabolism-Related Genes

Energy Metabolism in Cancer: The Roles of STAT3 and STAT5 in the Regulation of Metabolism-Related Genes

Bladder paraganglioma, gastrointestinal stromal tumor, and SDHB germline mutation in a patient with Carney-Stratakis syndrome: A case report and literature review

Succinate as an Oncometabolite in Endocrine, Mesenchymal, and Epithelial Tumors

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