Germline FH mutations presenting with pheochromocytoma

Journal of Clinical Endocrinology and Metabolism

Volumn 99, Issue 10, 2014, Pages E2046-E2050

  Clark, Graeme R ^a   Sciacovelli, Marco ^b   Gaude, Edoardo ^b   Walsh, Diana M ^c   Kirby, Gail ^c,d   Simpson, Michael A ^e   Trembath, Richard C ^e   Berg, Jonathan N ^f   Woodward, Emma R ^c,d   Kinning, Esther ^g   Morrison, Patrick J ^h   Frezza, Christian ^b   Maher, Eamonn R ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF BIRMINGHAM   (United Kingdom)

^d BIRMINGHAM WOMEN S HOSPITAL   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF DUNDEE   (United Kingdom)

^g ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^h QUEEN'S UNIVERSITY BELFAST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FUMARATE HYDRATASE;

ADOLESCENT; ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; CHILD; COHORT ANALYSIS; CONTROLLED STUDY; EXOME RESEQUENCING; FEMALE; FUMARATE HYDRATASE GENE; GENE IDENTIFICATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GERMLINE MUTATION; HEAD AND NECK CANCER; HUMAN; HUMAN TISSUE; IN VITRO STUDY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PARAGANGLIOMA; PHENOTYPE; PHEOCHROMOCYTOMA; PRESCHOOL CHILD; SEQUENCE ANALYSIS; SPLICING DEFECT; ADRENAL TUMOR; GENETICS; INFANT; MIDDLE AGED; NEWBORN; ONSET AGE; YOUNG ADULT;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; AGE OF ONSET; AGED; CHILD; CHILD, PRESCHOOL; FEMALE; FUMARATE HYDRATASE; GERM-LINE MUTATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; MIDDLE AGED; MUTATION, MISSENSE; PARAGANGLIOMA; PHEOCHROMOCYTOMA; YOUNG ADULT;

EID: 84907653297     PISSN: 0021972X     EISSN: 19457197     Source Type: Journal    
DOI: 10.1210/jc.2014-1659     Document Type: Article

References (20)

1. Lenders JW, Eisenhofer G, Mannelli M, Pacak K. Phaeochromocytoma. Lancet. 2005;366:665-675.
2. Astuti D, Latif F, Dallol A, et al. Gene mutations in the succinate dehydrogenase subunit SDHB cause susceptibility to familial pheochromocytoma and to familial paraganglioma. Am J Hum Genet. 2001;69:49-54.
3. Gimenez-Roqueplo AP, Favier J, Rustin P, et al. Mutations in the SDHB gene are associated with extra-adrenal and/or malignant phaeochromocytomas. Cancer Res. 2003;63:5615-5621.
4. Ricketts CJ, Forman JR, Rattenberry E, et al. Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. Hum Mutat. 2010;31:41-51.
5. Jafri M, Maher ER. The genetics of phaeochromocytoma: using clinical features to guide genetic testing. Eur J Endocrinol. 2012;166:151-158.
6. Dahia PL, Ross KN, Wright ME, et al. A HIF1 a regulatory loop links hypoxia and mitochondrial signals in pheochromocytomas. PLoS Genet. 2005;1:72-80.
7. Burnichon N, Vescovo L, Amar L, et al. Integrative genomic analysis reveals somatic mutations in pheochromocytoma and paraganglioma. Hum Mol Genet. 2011;20:3974-3985.
8. Selak MA, Armour SM, MacKenzie ED, et al. Succinate links TCA cycle dysfunction to oncogenesis by inhibiting HIF-a prolyl hydroxylase. Cancer Cell. 2005;7:77-85.
9. Xiao M, Yang H, Xu W, et al. Inhibition of a-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. Genes Dev. 2012;26:1326-1338.
10. Isaacs JS, Jung YJ, Mole DR, et al. HIF overexpression correlates with biallelic loss of fumarate hydratase in renal cancer: novel role of fumarate in regulation of HIF stability. Cancer Cell. 2005;8:143-153.
11. Letouzé E, Martinelli C, Loriot C, et al. SDH mutations establish a hypermethylator phenotype in paraganglioma. Cancer Cell. 2013;23:739-752.
12. Lehtonen HJ. Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics. Fam Cancer. 2011;10:397-411.
13. Castro-Vega LJ, Buffet A, De Cubas AA, et al. Germline mutations in FH confer predisposition to malignant pheochromocytomas and paragangliomas. Hum Mol Genet. 2014;23:2440-2446.
14. Walsh DM, Shalev SA, Simpson MA, et al. Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance. Eur J Med Genet. 2013;56:39-42.
15. Frezza C, Zheng L, Folger O, et al. Haem oxygenase is synthetically lethal with the tumour suppressor fumarate hydratase. Nature. 2011;477:225-228.
16. Yang Y, Valera VA, Padilla-Nash HM, et al. UOK 262 cell line, fumarate hydratase deficient (FH-/FH-) hereditary leiomyomatosis renal cell carcinoma: in vitro and in vivo model of an aberrant energy metabolic pathway in human cancer. Cancer Genet Cytogenet. 2010;196:45-55.
17. Bardella C, El-Bahrawy M, Frizzell N, et al. Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status. J Pathol. 2011;225:4-11.
18. Ricketts C, Woodward ER, Killick P, et al. Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst. 2008;100:1260-1262.
19. Adam J, Hatipoglu E, O'Flaherty L, et al. Renal cyst formation in Fh1-deficient mice is independent of the Hif/Phd pathway: roles for fumarate in KEAP1 succination and Nrf2 signaling. Cancer Cell. 2011;20:524-537.
20. Arora R, Eble JN, Pierce HH, et al. Bilateral ovarian steroid cell tumours and massive macronodular adrenocortical disease in a patient with hereditary leiomyomatosis and renal cell cancer syndrome. Pathology. 2012;44:360-363.