Renal tumors associated with germline SDHB mutation show distinctive morphology

American Journal of Surgical Pathology

Volumn 35, Issue 10, 2011, Pages 1578-1585

  Gill, Anthony J ^a,b   Pachter, Nicholas S ^e   Chou, Angela ^c   Young, Barbara ^f   Clarkson, Adele ^a   Tucker, Katherine M ^d   Winship, Ingrid M ^e   Earls, Peter ^c   Benn, Diana E ^b   Robinson, Bruce G ^b   Fleming, Stewart ^g   Clifton Bligh, Roderick J ^b  

^a Royal North Shore Hospital Pacific Highway ^*  (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c ST VINCENT S HOSPITAL   (Australia)

^d PRINCE OF WALES HOSPITAL   (Australia)

^e ROYAL MELBOURNE HOSPITAL   (Australia)

^f UNIVERSITY OF NEWCASTLE   (Australia)

^g UNIVERSITY OF DUNDEE   (United Kingdom)

Author keywords

clear cell carcinoma; gastrointestinal stromal tumor; GIST; hereditary renal carcinoma; oncocytoma; paraganglioma; PGL4; pheochromocytoma; renal carcinoma; SDHB

Indexed keywords

SDHB PROTEIN, HUMAN; SUCCINATE DEHYDROGENASE;

ADENOCARCINOMA; ADULT; ARTICLE; CASE REPORT; FEMALE; GENETICS; HUMAN; KIDNEY TUMOR; MALE; METASTASIS; MIDDLE AGED; MUTATION; PARAGANGLIOMA; PATHOLOGY; PHEOCHROMOCYTOMA; PROGNOSIS;

ADENOCARCINOMA; ADULT; FEMALE; GERM-LINE MUTATION; HUMANS; KIDNEY NEOPLASMS; MALE; MIDDLE AGED; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PROGNOSIS; SUCCINATE DEHYDROGENASE; YOUNG ADULT;

EID: 80053373522     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0b013e318227e7f4     Document Type: Article

References (24)

1. Bayley JP, Kunst HP, Cascon A, et al. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol. 2010;11:366-372
2. Benn D, Robinson B. Genetic basis of phaeochromocytoma and paraganglioma. Best practice & research. Clin Endocrin Metab. 2006;20:435-450 (Pubitemid 44356452)
3. Eng C, Kiuru M, Fernandez M, et al. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer. 2003; 3:193-2002
4. Gaal J, Stratakis CA, Carney JA, et al. SDHB immunohistochemistry: a useful tool in the diagnosis of Carney-Stratakis and Carney triad gastrointestinal stromal tumors. Mod Pathol. 2011;24:147-151
5. Gill AJ, Benn DE, Chou A, et al. Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC and SDHD in paraganglioma- phaeochromocytoma syndromes. Hum Pathol. 2010;41:805-814
6. Gill AJ, Chou A, Vilain R, et al. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into two distinct types. Am J Surg Pathol. 2010;34:636-44
7. Gill AJ, Pachter NS, Clarkson A, et al. Renal tumors and hereditary pheochromoytoma-paraganglioma syndrome. N Engl J Med. 2011; 9:885-886
8. Gottlieb E, Tomlinson IP. Mitochondrial tumour suppressors: a genetic and biochemical update. Nat Rev. 2005;5:857-866 (Pubitemid 41746030)
9. Huai-Xiang H, Khalimonchuk O, Shraders M, et al. SDH 5, a gene required for flavination of succinate dehydrogenase, is mutated in paraganglioma. Science. 2009;325:1139-1142
10. Henderson A, Douglas F, Perros P, et al. SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. Fam Cancer. 2009;8:257-260
11. Housley SL, Lindsay RS, Young B, et al. Renal carcinoma with giant mitochondria associated with germ-line mutation and somatic loss of the succinate dehydrogenase B gene. Histopathology. 2010;56: 405-410
12. Janeway KA, Kim SY, Lodsih M, et al. Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci U S A. 2011;108:314-318
13. Korpershoek E, van Nederveen FH, Dannenberg H, et al. Genetic analysis of apparently sporadic pheochromocytomas: The Rotterdam Experience. Ann N Y Acad Sci. 2006;1073:138-148 (Pubitemid 44912006)
14. Merino MJ, Parillar-Castella ER, Lineham M. The unrecognised morphology of renal tumours in SDH syndromes: immunohistochemistry and genetic changes. Mod Pathol. 2010;23(Supp:206A):917
15. Morris MR,Maina E, Morgan NV, et al. Molecular genetic analysis of FIH-1, FH, and SDHB candidate tumour suppressor genes in renal cell carcinoma. J Clin Pathol. 2004;57:706-711 (Pubitemid 38901484)
16. Nathanson K, Baysal BE, Drovdlic C, et al. Familial paraganglioma- phaeochromocytoma syndromes caused by SDHB, SDHC and SDHD Mutations.. In: DeLellis RA, Lloyd RV, Heitz PU, et al, eds. World Health Organization Classification of Tumours: Pathology and Genetics of Tumours of Endocrine Organs. Lyon: IARC Press; 2004:238-242
17. Neumann HP, Bausc B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346: 1459-1466 (Pubitemid 34755714)
18. Neumann HP, Pawlu C, Peczkowska M. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA. 2004;292:943-951 (Pubitemid 39097204)
19. Niemann S, Muller U. Mutations in SDHC cause autosomal dominant paraganglioma, type 3. Nat Genet. 2000;26:268-270
20. Pavlolich CP, Schmidt LS. Searching for the hereditary causes of renal carcinoma. Nat Rev Cancer. 2004;4:381-393 (Pubitemid 38579484)
21. Ricketts C, Woodward ER, Kallick P, et al. Germline SDHB mutations and familial renal cell carcinoma. J Natl Cancer Inst. 2008;100:1260-1262
22. 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
23. van Nederveen FH, Gaal J, Favier J, et al. An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC or SDHD gene mutations: a retrospective and prospective analysis. Lancet Oncol. 2009; 8:764-771
24. Vanharanta S, Buchta M, McWhinney SR, et al. Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHBassociated heritable paraganglioma. Am J Hum Genet. 2004; 74:153-159 (Pubitemid 38085246)