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SDH Complex Gene Mutation

MedGen UID:: 317909
•Concept ID:: C1709046
•: Cell or Molecular Dysfunction

Synonyms:

Mitochondrial Complex II Gene Mutation; Mitochondrial Respiratory Chain Complex II Gene Mutation; SDH Family Gene Mutation; SDH Gene Mutation; Succinate Dehydrogenase Gene Mutation; Succinate-Coenzyme Q Reductase Gene Mutation; Succinate-CoQ Reductase Gene Mutation

Definition

A change in the nucleotide sequence of any gene that encodes one of the proteins in the succinate dehydrogenase (SDH) complex. [from NCI]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSDH Complex Gene Mutation

Molecular Abnormality
- Molecular Sequence Variation
  - Molecular Genetic Variation
    - Gene Abnormality
      - SDH Complex Gene Mutation
        SDHA Gene Mutation
        SDHA NM_004168.3:c.1660C>T
        SDHB Gene Mutation
        SDHB NM_003000.2:c.487T>C
        SDHC Gene Mutation
        SDHD Gene Mutation
        SDHD NM_003002.4:c.34G>A

Professional guidelines

PubMed

SDH deficiency is very common in carotid body paragangliomas: Genetic counseling and testing should be offered to all patients.

Sarkis LM, Clifton-Bligh R, Veivers D, Gill AJ
Head Neck 2023 Jun;45(6):1497-1502. Epub 2023 Apr 3 doi: 10.1002/hed.27362. PMID: 37010365

PRECISION MEDICINE: AN UPDATE ON GENOTYPE/BIOCHEMICAL PHENOTYPE RELATIONSHIPS IN PHEOCHROMOCYTOMA/PARAGANGLIOMA PATIENTS.

Gupta G, Pacak K; AACE Adrenal Scientific Committee
Endocr Pract 2017 Jun;23(6):690-704. Epub 2017 Mar 23 doi: 10.4158/EP161718.RA. PMID: 28332883 Free PMC Article

Genotype and tumor locus determine expression profile of pseudohypoxic pheochromocytomas and paragangliomas.

Shankavaram U, Fliedner SM, Elkahloun AG, Barb JJ, Munson PJ, Huynh TT, Matro JC, Turkova H, Linehan WM, Timmers HJ, Tischler AS, Powers JF, de Krijger R, Baysal BE, Takacova M, Pastorekova S, Gius D, Lehnert H, Camphausen K, Pacak K
Neoplasia 2013 Apr;15(4):435-47. doi: 10.1593/neo.122132. PMID: 23555188 Free PMC Article

See all (5)

Recent clinical studies

Etiology

PCDHGC3 hypermethylation as a potential biomarker of intestinal neuroendocrine carcinomas.

Cubiella T, Celada L, San-Juan-Guardado J, Rodríguez-Aguilar R, Suárez-Priede Á, Poch M, Dominguez F, Fernández-Vega I, Montero-Pavón P, Fraga MF, Nakatani Y, Takata S, Yachida S, Valdés N, Chiara MD
J Pathol 2024 Aug;263(4-5):418-428. Epub 2024 May 25 doi: 10.1002/path.6291. PMID: 38795318

Clinical Practice Guidance: Surveillance for phaeochromocytoma and paraganglioma in paediatric succinate dehydrogenase gene mutation carriers.

Wong MY, Andrews KA, Challis BG, Park SM, Acerini CL, Maher ER, Casey RT
Clin Endocrinol (Oxf) 2019 Apr;90(4):499-505. Epub 2019 Jan 29 doi: 10.1111/cen.13926. PMID: 30589099 Free PMC Article

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M, Lasota J
Int J Biochem Cell Biol 2014 Aug;53:514-9. Epub 2014 Jun 2 doi: 10.1016/j.biocel.2014.05.033. PMID: 24886695 Free PMC Article

Head and neck paragangliomas.

Mendenhall WM, Amdur RJ, Vaysberg M, Mendenhall CM, Werning JW
Head Neck 2011 Oct;33(10):1530-4. Epub 2010 Nov 4 doi: 10.1002/hed.21524. PMID: 21928426

Hereditary paragangliomas.

Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191 Free PMC Article

See all (41)

Diagnosis

Hereditary succinate dehydrogenase-deficient renal cell carcinoma.

Rogala J, Zhou M
Semin Diagn Pathol 2024 Jan;41(1):32-41. Epub 2023 Nov 8 doi: 10.1053/j.semdp.2023.11.001. PMID: 37981479

Back to Biochemistry: Evaluation for and Prognostic Significance of SDH Mutations in Paragangliomas and Pheochromocytomas.

Gupta S, Erickson LA
Surg Pathol Clin 2023 Mar;16(1):119-129. doi: 10.1016/j.path.2022.09.011. PMID: 36739159

The Role of Immunohistochemistry and Molecular Analysis of Succinate Dehydrogenase in the Diagnosis of Endocrine and Non-Endocrine Tumors and Related Syndromes.

Oudijk L, Gaal J, de Krijger RR
Endocr Pathol 2019 Mar;30(1):64-73. doi: 10.1007/s12022-018-9555-2. PMID: 30421319

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M, Lasota J
Int J Biochem Cell Biol 2014 Aug;53:514-9. Epub 2014 Jun 2 doi: 10.1016/j.biocel.2014.05.033. PMID: 24886695 Free PMC Article

Head and neck paragangliomas.

Mendenhall WM, Amdur RJ, Vaysberg M, Mendenhall CM, Werning JW
Head Neck 2011 Oct;33(10):1530-4. Epub 2010 Nov 4 doi: 10.1002/hed.21524. PMID: 21928426

See all (47)

Therapy

The Emerging Role of the FGF/FGFR Pathway in Gastrointestinal Stromal Tumor.

Astolfi A, Pantaleo MA, Indio V, Urbini M, Nannini M
Int J Mol Sci 2020 May 7;21(9) doi: 10.3390/ijms21093313. PMID: 32392832 Free PMC Article

Gastrointestinal stromal tumors - Summary of mutational status of the primary/secondary KIT/PDGFRA mutations, BRAF mutations and SDH defects.

Kalfusova A, Linke Z, Kalinova M, Krskova L, Hilska I, Szabova J, Vicha A, Kodet R
Pathol Res Pract 2019 Dec;215(12):152708. Epub 2019 Oct 29 doi: 10.1016/j.prp.2019.152708. PMID: 31708372

Mitochondrial complex II regulates a distinct oxygen sensing mechanism in monocytes.

Sharma S, Wang J, Cortes Gomez E, Taggart RT, Baysal BE
Hum Mol Genet 2017 Apr 1;26(7):1328-1339. doi: 10.1093/hmg/ddx041. PMID: 28204537 Free PMC Article

Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors.

Celestino R, Lima J, Faustino A, Vinagre J, Máximo V, Gouveia A, Soares P, Lopes JM
Eur J Hum Genet 2013 May;21(5):503-10. Epub 2012 Sep 5 doi: 10.1038/ejhg.2012.205. PMID: 22948025 Free PMC Article

See all (4)

Prognosis

Hereditary succinate dehydrogenase-deficient renal cell carcinoma.

Rogala J, Zhou M
Semin Diagn Pathol 2024 Jan;41(1):32-41. Epub 2023 Nov 8 doi: 10.1053/j.semdp.2023.11.001. PMID: 37981479

Back to Biochemistry: Evaluation for and Prognostic Significance of SDH Mutations in Paragangliomas and Pheochromocytomas.

Gupta S, Erickson LA
Surg Pathol Clin 2023 Mar;16(1):119-129. doi: 10.1016/j.path.2022.09.011. PMID: 36739159

Succinate Dehydrogenase Complex: An Updated Review.

Rasheed MRHA, Tarjan G
Arch Pathol Lab Med 2018 Dec;142(12):1564-1570. Epub 2018 Oct 5 doi: 10.5858/arpa.2017-0285-RS. PMID: 30289269

Gene of the month: SDH.

Aldera AP, Govender D
J Clin Pathol 2018 Feb;71(2):95-97. Epub 2017 Oct 25 doi: 10.1136/jclinpath-2017-204677. PMID: 29070651

Hereditary paragangliomas.

Raygada M, Pasini B, Stratakis CA
Adv Otorhinolaryngol 2011;70:99-106. Epub 2011 Feb 24 doi: 10.1159/000322484. PMID: 21358191 Free PMC Article

See all (35)

Clinical prediction guides

PCDHGC3 hypermethylation as a potential biomarker of intestinal neuroendocrine carcinomas.

Succinate Dehydrogenase Complex: An Updated Review.

Rasheed MRHA, Tarjan G
Arch Pathol Lab Med 2018 Dec;142(12):1564-1570. Epub 2018 Oct 5 doi: 10.5858/arpa.2017-0285-RS. PMID: 30289269

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) - a review.

Miettinen M, Lasota J
Int J Biochem Cell Biol 2014 Aug;53:514-9. Epub 2014 Jun 2 doi: 10.1016/j.biocel.2014.05.033. PMID: 24886695 Free PMC Article

Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia.

Gill AJ
Pathology 2012 Jun;44(4):285-92. doi: 10.1097/PAT.0b013e3283539932. PMID: 22544211

Transcription association of VHL and SDH mutations link hypoxia and oxidoreductase signals in pheochromocytomas.

Dahia PL; Familial Pheochromocytoma Consortium
Ann N Y Acad Sci 2006 Aug;1073:208-20. doi: 10.1196/annals.1353.023. PMID: 17102089

See all (42)

Recent systematic reviews

Succinate dehydrogenase mutations in head and neck paragangliomas: A systematic review and meta-analysis of individual patients' data.

Koh ES, Dabsha A, Rahouma M, Zappi K, Srinivasan Y, Hickner A, Kutler DI
Head Neck 2024 Jul;46(7):1795-1808. Epub 2024 Jan 25 doi: 10.1002/hed.27652. PMID: 38273766

See all (1)

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SDH Complex Gene Mutation

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Recent systematic reviews

Supplemental Content

Table of contents

Practice guidelines

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