Succinate dehydrogenase deficiency is rare in pituitary adenomas

American Journal of Surgical Pathology

Volumn 38, Issue 4, 2014, Pages 560-566

  Gill, Anthony J ^a   Toon, Christopher W ^a,b,c   Clarkson, Adele ^c,d   Sioson, Loretta ^a,c   Chou, Angela ^a,c   Winship, Ingrid ^c,e   Robinson, Bruce G ^f   Benn, Diana E ^a,b   Clifton Bligh, Roderick J ^a,b   Dwight, Trisha ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d Histopath Pathology   (Australia)

^e ST VINCENT S HOSPITAL   (Australia)

^f UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Pituitary adenoma; SDHA; SDHB; Succinate dehydrogenase

Indexed keywords

SUCCINATE DEHYDROGENASE;

ADENOMA; ADOLESCENT; ADULT; AGED; ARTICLE; ENZYMOLOGY; FEMALE; GENETICS; HUMAN; HYPOPHYSIS TUMOR; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; NUCLEOTIDE SEQUENCE; RETROSPECTIVE STUDY; TISSUE MICROARRAY; VERY ELDERLY; YOUNG ADULT;

ADENOMA; ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MIDDLE AGED; MUTATION; PITUITARY NEOPLASMS; RETROSPECTIVE STUDIES; SUCCINATE DEHYDROGENASE; TISSUE ARRAY ANALYSIS; YOUNG ADULT;

EID: 84896594874     PISSN: 01475185     EISSN: 15320979     Source Type: Journal    
DOI: 10.1097/PAS.0000000000000149     Document Type: Article

References (30)

1. Daly AF, Rixhon M, Adam C, et al. High prevalence of pituitary adenomas: A cross-sectional study in the province of Lieve, Belgium. J Clin Endocrinol Metab. 2006;91:4769-4775.
2. Beckers A, Aaltonen LA, Daly AF, et al. Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocr Rev. 2013;34:239-277.
3. Beckers A. Means, motive, and opportunity: SDH mutations are suspects in pituitary tumors. J Clin Endocrinol Metab. 2013;98: 2274-2276.
4. Gill AJ. Succinate dehydrogenase (SDH) and mitochondrial driven neoplasia. Pathology. 2012;44:285-292.
5. Fishbein L, Nathanson KL. Pheochromocytoma and paraganglioma: Understanding the complexities of the genetic background. Cancer Genet. 2012;205:1-11.
6. Gill AJ, Chou A, Vilain R, et al. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. Am J Surg Pathol. 2010;34:636-644.
7. Gill AJ, Pachter NS, Chou A, et al. Renal tumors associated with germline SDHB mutation show distinctive morphology. Am J Surg Pathol. 2011;35:1578-1585.
8. 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;10: 764-771.
9. 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.
10. Janeway KA, Kim SY, Lodish M, et al. NIH Pediatric and Wild-Type GIST Clinic. Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. Proc Natl Acad Sci USA. 2011;108:314-318.
11. Gill AJ, Chou A, Vilain RE, et al. "Pediatric type" Gastrointestinal stromal tumors are SDHB negative ("type 2") GISTs. Am J Surg Pathol. 2011;35:1245-1247.
12. 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.
13. Miettinen M, Wang ZF, Sarlomo-Rikala M, et al. Succinate dehydrogenase-deficient GISTs: A clinicopathologic, immunohistochemical, and molecular genetic study of 66 gastric GISTs with predilection to young age. Am J Surg Pathol. 2011;35:1712-1721.
14. Chou A, Chen J, Clarkson A, et al. Succinate dehydrogenasedeficient GISTs are characterized by IGF1R overexpression. Mod Pathol. 2012;25:1307-1313.
15. Gill AJ, Pachter NS, Clarkson A, et al. Renal tumors and hereditary pheochromocytoma-paraganglioma syndrome. N Engl J Med. 2011; 364:885-886.
16. Korpershoek E, Favier J, Gaal J, et al. SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. J Clin Endocrinol Metab. 2011;96:E1472-E1476.
17. Dwight T, Benn DE, Clarkson A, et al. Loss of SDHA expression identifies SDHA mutations in succinate dehydrogenase deficient gastrointestinal stromal tumors. Am J Surg Pathol. 2013;37: 226-233.
18. Miettinen M, Killian JK, Wang ZF, et al. Immunohistochemical loss of succinate dehydrogenase subunit A (SDHA) in gastrointestinal stromal tumors (GISTs) signals SDHA germline mutation. Am J Surg Pathol. 2013;37:234-240.
19. Xekouki P, Stratakis CA. Succinate dehydrogenase (SDHx) mutations in pituitary tumors: Could this be a new role for mitochondrial complex II and/or Krebs cycle defects? Endocr Relat Cancer. 2012;19:33-40.
20. Benn DE, Gimenez-Roqueplo AP, Reilly JR, et al. Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. J Clin Endocrinol Metab. 2006;91:827-836.
21. Denes J, Swords F, Xekouki P, et al. Familial pituitary adenoma and paraganglioma syndrome-A novel type of multiple endocrine neoplasia [meeting abstracts]. Endocr Rev. 2012;33: OR41-OR42.
22. Boguszewski CL, Fighera TM, Bornschein A, et al. Genetic studies in a coexistence of acromegaly, pheochromocytoma, gastrointestinal stromal tumor (GIST) and thyroid follicular adenoma. Arq Bras Endocrinol Metabol. 2012;56:507-512.
23. Dwight T, Mann K, Benn D, et al. Familial SDHA mutation associated with pituitary adenoma and pheochromocytoma/paraganglioma. J Clin Endocrinol Metab. 2013;98:E1103-E1108.
24. Varsavsky M, Sebastián-Ochoa A, Torres Vela E. Coexistence of a pituitary macroadenoma and multicentric paraganglioma: A strange coincidence. Endocrinol Nutr. 2013;60:154-156.
25. Xekouki P, Pacak K, Almeida M, et al. Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormoneproducing pituitary tumor: A new association for SDH? J Clin Endocrinol Metab. 2012;97:E357-E366.
26. Ló pez-Jiménez E, de Campos JM, Kusak EM, et al. SDHC mutation in an elderly patient without familial antecedents. Clin Endocrinol (Oxf). 2008;69:906-910.
27. Miettinen M, Sarlomo-Rikala M, Cue PM, et al. Mapping of succinate dehydrogenase losses in 2258 epithelial neoplasms. Appl Immunohistochem Mol Morphol. 2013;25. [Epub ahead of print].
28. Freda PU, Beckers AM, Katznelson L, et al. Pituitary incidentaloma: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2011;96:894-904.
29. Gimm O, Armanios M, Dziema H, et al. Somatic and occult germline mutations in SDHD, a mitochondrial complex II gene, in nonfamilial phaeochromocytoma. Cancer Res. 2000;60:6822-6825.
30. van Nederveen FH, Korpershoek E, Lenders JW, et al. Somatic SDHB mutation in extraadrenal pheochromocytoma. N Engl JMed. 2007;357:306-308.