Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors often associated with mutations in genes. The immunohistochemistry of succinate dehydrogenase (SDH) subunits has been considered a useful instrument for the prediction of mutations in paragangliomas/pheochromocytomas. We compared the mutation status of genes with the immunohistochemical (IHC) staining of SDH subunits in CPGLs. To identify pathogenic/likely pathogenic variants in genes, exome sequencing data analysis among 42 CPGL patients was performed. IHC staining of SDH subunits was carried out for all CPGLs studied. We encountered variants in 38% (16/42) of the cases in genes. IHC showed negative (5/15) or weak diffuse (10/15) SDHB staining in most tumors with variants in any of (94%, 15/16). In -mutated CPGL, SDHA expression was completely absent and weak diffuse SDHB staining was detected. Positive immunoreactivity for all SDH subunits was found in one case with a variant in . Notably, CPGL samples without variants in also demonstrated negative (2/11) or weak diffuse (9/11) SDHB staining (42%, 11/26). Obtained results indicate that SDH immunohistochemistry does not fully reflect the presence of mutations in the genes; diagnostic effectiveness of this method was 71%. However, given the high sensitivity of SDHB immunohistochemistry, it could be used for initial identifications of patients potentially carrying mutations for recommendation of genetic testing.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576476 | PMC |
http://dx.doi.org/10.3390/ijms21186950 | DOI Listing |
Oncol Lett
February 2025
Department of Pathology, Hubei Cancer Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei 430079, P.R. China.
Succinate dehydrogenase (SDH)-deficient renal cell carcinoma (RCC) is a rare subtype of RCC characterized by the presence of a germline mutation in one of the four subunits of the SDH enzyme complex (SDHA, SDHB, SDHC and SDHD). Together with a somatic second hit, these variants lead to the loss of function of the SDH complex. SDH-deficient RCC associated with SDHA mutation is a rare condition; to the best of our knowledge, there have been only four patients reported in the literature.
View Article and Find Full Text PDFJ Neuroinflammation
November 2024
Department of Anatomy, College of Basic Medical Sciences, Dalian Medical University, Dalian, Liaoning, China.
The aging of the central nervous system(CNS) is a primary contributor to neurodegenerative diseases in older individuals and significantly impacts their quality of life. Neuroinflammation, characterized by activation of microglia(MG) and release of cytokines, is closely associated with the onset of these neurodegenerative diseases. The activated status of MG is modulated by specifically programmed metabolic changes under various conditions.
View Article and Find Full Text PDFJ Therm Biol
October 2024
Laboratory of Amphibian Diversity Investigation, College of Ecology, Lishui University, Lishui, 323000, Zhejiang, China. Electronic address:
Variations in thermal environments can provoke diverse physiological responses in amphibians. Despite extensive studies on the thermal sensitivity of amphibian metabolic physiology, including enzyme activity at different temperatures, the rationale for selecting specific metabolic enzymes and their relationship with gene expression remains unclear. Cytochrome c oxidase (CCO), succinate dehydrogenase (SDH), and lactate dehydrogenase (LDH) are key metabolic enzymes within the primary metabolic regulatory tissues of animals.
View Article and Find Full Text PDFJ Cachexia Sarcopenia Muscle
December 2024
Department of Medical & Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Background: Pathogenic variants in subunits of succinyl-CoA synthetase (SCS) are associated with mitochondrial encephalomyopathy in humans. SCS catalyses the conversion of succinyl-CoA to succinate coupled with substrate-level phosphorylation of either ADP or GDP in the TCA cycle. This report presents a muscle-specific conditional knock-out (KO) mouse model of Sucla2, the ADP-specific beta subunit of SCS, generating a novel in vivo model of mitochondrial myopathy.
View Article and Find Full Text PDFAdv Anat Pathol
November 2024
Department of Pathology and Laboratory Medicine, University of Miami Miller School of Medicine, Miami, FL.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!