دورية أكاديمية
Germline SUCLG2 Variants in Patients With Pheochromocytoma and Paraganglioma.
| العنوان: | Germline SUCLG2 Variants in Patients With Pheochromocytoma and Paraganglioma. |
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| المؤلفون: | Hadrava Vanova K; Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Pang Y; Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Krobova L; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Kraus M; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic.; Department of Cell Biology, Faculty of Science, Charles University, Prague, Czech Republic., Nahacka Z; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Boukalova S; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Pack SD; Laboratory of Pathology, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Zobalova R; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Zhu J; Systems Biology Center, National Heart Lung Blood Institute, National Institutes of Health, Bethesda, MD, USA., Huynh TT; Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA., Jochmanova I; Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.; 1st Department of Internal Medicine, Pavol Jozef Safarik University in Kosice, Faculty of Medicine and Teaching Hospital of Louis Pasteur, Kosice, Slovakia., Uher O; Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.; Department of Medical Biology, Faculty of Science, University of South Bohemia, Ceske Budejovice, Czech Republic., Hubackova S; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Dvorakova S; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Garrett TJ; Southeast Center for Integrated Metabolomics, Clinical and Translational Science Institute, University of Florida, Gainesville, FL, USA., Ghayee HK; Department of Medicine, Division of Endocrinology, Malcom Randall VA Medical Center, University of Florida, Gainesville, FL, USA., Wu X; Cancer Research Technology Program, Frederick National Laboratory for Cancer Research, Frederick, MD, USA., Schuster B; Institute of Molecular Genetics, Czech Academy of Sciences, Prague, Czech Republic., Knapp PE; Section of Endocrinology, Boston Medical Center, Boston University, Boston, MA, USA., Frysak Z; 3rd Department of Internal Medicine, University Hospital and Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic., Hartmann I; Department of Urology, University Hospital Olomouc and Faculty of Medicine and Dentistry, Palacky University, Olomouc, Czech Republic., Nilubol N; Endocrine Surgery Section, Surgical Oncology Program, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Cerny J; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Taieb D; Department of Nuclear Medicine, La Timone University Hospital, CERIMED, Aix-Marseille University, Marseille, France., Rohlena J; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic., Neuzil J; Institute of Biotechnology, Czech Academy of Sciences, BIOCEV, Vestec, Prague West, Czech Republic.; School of Pharmacy and Medical Science, Griffith University, Southport, QLD, Australia., Yang C; Neuro-Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Pacak K; Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA. |
| المصدر: | Journal of the National Cancer Institute [J Natl Cancer Inst] 2022 Jan 11; Vol. 114 (1), pp. 130-138. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: United States NLM ID: 7503089 Publication Model: Print Cited Medium: Internet ISSN: 1460-2105 (Electronic) Linking ISSN: 00278874 NLM ISO Abbreviation: J Natl Cancer Inst Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2003-> : Cary, NC : Oxford University Press Original Publication: Bethesda, Md., U. S. Dept. of Health, Education, and Welfare, Public Health Service, National Institutes of Health; Washington, for sale by the Supt. of Docs., U. S. Govt. Print. Off. |
| مواضيع طبية MeSH: | Adrenal Gland Neoplasms*/genetics , Adrenal Gland Neoplasms*/pathology , Paraganglioma*/genetics , Paraganglioma*/pathology , Pheochromocytoma*/genetics , Pheochromocytoma*/pathology, Germ-Line Mutation ; Humans ; Succinate Dehydrogenase/genetics ; Succinate Dehydrogenase/metabolism |
| مستخلص: | Background: Pheochromocytoma and paraganglioma (PPGL) are neuroendocrine tumors with frequent mutations in genes linked to the tricarboxylic acid cycle. However, no pathogenic variant has been found to date in succinyl-CoA ligase (SUCL), an enzyme that provides substrate for succinate dehydrogenase (SDH; mitochondrial complex II [CII]), a known tumor suppressor in PPGL. Methods: A cohort of 352 patients with apparently sporadic PPGL underwent genetic testing using a panel of 54 genes developed at the National Institutes of Health, including the SUCLG2 subunit of SUCL. Gene deletion, succinate levels, and protein levels were assessed in tumors where possible. To confirm the possible mechanism, we used a progenitor cell line, hPheo1, derived from a human pheochromocytoma, and ablated and re-expressed SUCLG2. Results: We describe 8 germline variants in the guanosine triphosphate-binding domain of SUCLG2 in 15 patients (15 of 352, 4.3%) with apparently sporadic PPGL. Analysis of SUCLG2-mutated tumors and SUCLG2-deficient hPheo1 cells revealed absence of SUCLG2 protein, decrease in the level of the SDHB subunit of SDH, and faulty assembly of the complex II, resulting in aberrant respiration and elevated succinate accumulation. Conclusions: Our study suggests SUCLG2 as a novel candidate gene in the genetic landscape of PPGL. Large-scale sequencing may uncover additional cases harboring SUCLG2 variants and provide more detailed information about their prevalence and penetrance. (Published by Oxford University Press 2021. This work is written by a US Government employee and is in the public domain in the US.) |
| التعليقات: | Comment in: J Natl Cancer Inst. 2022 Jan 11;114(1):7-8. (PMID: 34415349) |
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| المشرفين على المادة: | EC 1.3.99.1 (Succinate Dehydrogenase) |
| تواريخ الأحداث: | Date Created: 20210820 Date Completed: 20220321 Latest Revision: 20220321 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC8755484 |
| DOI: | 10.1093/jnci/djab158 |
| PMID: | 34415331 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1460-2105 |
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| DOI: | 10.1093/jnci/djab158 |