Usefulness of Negative and Weak–Diffuse Pattern of SDHB Immunostaining in Assessment of SDH Mutations in Paragangliomas and Pheochromocytomas (original) (raw)

References

  1. Neumann HPH, Pawlu C, Peczkowska M, et al. Distinct clinical features of paraganglioma syndromes associated with SDHB and SDHD gene mutations. JAMA 292(8):943–51,2004.
    Article PubMed CAS Google Scholar
  2. Chen H, Sippel RS, O'Dorisio MS, et al. The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. Pancreas 39(6):775–83, 2010.
    Article PubMed Google Scholar
  3. 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 31(1):41–51, 2010.
    Article PubMed CAS Google Scholar
  4. Eng C, Kiuru M, Fernandez MJ, et al. A role for mitochondrial enzymes in inherited neoplasia and beyond. Nat Rev Cancer 3(3):193–202, 2003.
    Article PubMed CAS Google Scholar
  5. Komminoth P, Perren A, van Nederveen FH, et al. Familial endocrine tumours: phaeochromocytomas and extra-adrenal paragangliomas. Diagnostic Histopathology 15(2):61–8, 2009.
    Article Google Scholar
  6. Nathanson K, Baysal BE, Drovdlic C et al. Familial paraganglioma-phaeocromocytoma syndromes caused by SDHB, SDHC and SDHB mutations. In: DeLellis R, Lloyd R, Heitz P, Eng C, eds. Pathology and Genetics of Tumours of Endocrine Organs (IARC WHO Classification of Tumours). World Health Organization 2004.
  7. Benn DE. Clinical Presentation and Penetrance of Pheochromocytoma/Paraganglioma Syndromes. J Clin Endocrinol Metab 91(3):827–36, 2005.
    Google Scholar
  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 10(8):764–71, 2009.
    Article PubMed Google Scholar
  9. Kopetschke R, Slisko M, Kilisli A, et al. Frequent incidental discovery of phaeochromocytoma: data from a German cohort of 201 phaeochromocytoma. Eur J Endocrinol 161(2):355–61, 2009.
    Article PubMed CAS Google Scholar
  10. O'Riordain DS, Young WF Jr, Grant CS, et al. Clinical Spectrum and Outcome of Functional Extraadrenal Paraganglioma. World J Surg 20(7):916–22, 1996.
    Article PubMed Google Scholar
  11. Gill AJ, Benn DE, Chou A, et al. Immunohistochemistry for SDHB triages genetic testing of SDHB, SDHC, and SDHD in paraganglioma-pheochromocytoma syndromes. Hum Pathol 41(6):805–14, 2010.
    Article PubMed CAS Google Scholar
  12. 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 96(9):1472–6, 2011.
    Article Google Scholar
  13. Gimenez-Roqueplo AP. Functional Consequences of a SDHB Gene Mutation in an Apparently Sporadic Pheochromocytoma. J Clin Endocrinol Metab 87(10):4771–4, 2002.
    Article PubMed CAS Google Scholar
  14. Pasini B, McWhinney SR, Bei T, et al. Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. Eur J Hum Genet 16(1):79–88, 2008.
    Article PubMed CAS Google Scholar
  15. Gimm O, Armanios M, Dziema H, et al. Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. Cancer Res 60(24):6822–5, 2000.
    PubMed CAS Google Scholar
  16. Burnichon N, Briere J-J, Libé R, et al. SDHA is a tumor suppressor gene causing paraganglioma. Hum Mol Genet 19(15):3011–20, 2010.
    Article PubMed CAS Google Scholar
  17. Qin Y, Yao L, King EE, et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet 42(3):229–33, 2010.
    Article PubMed CAS Google Scholar
  18. Comino-Méndez I, Gracia-Aznárez FJ, Schiavi F, et al. Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nat Genet 43(7):663–7, 2011.
    Article PubMed Google Scholar
  19. Neumann HP, Erlic Z, Boedeker C, et al. Clinical predictors for germline mutations in head and neck paraganglioma patients: Cost reduction strategy in genetic diagnostic process as fall-out. Cancer Res 69(8):3650–6, 2009.
    Article PubMed CAS Google Scholar
  20. Amar L, Bertherat J, Baudin E, et al. Genetic testing in pheochromocytoma or functional paraganglioma. J Clin Oncol 23(34):8812–8, 2005.
    Article PubMed CAS Google Scholar
  21. Schlisio S, Kenchappa RS, Vredeveld LC, et al. The kinesin KIF1B acts downstream from EglN3 to induce apoptosis and is a potential 1p36 tumor suppressor. Genes Dev 22(7):884–93, 2008.
    Article PubMed CAS Google Scholar
  22. Ladroue CC, Carcenac RR, Leporrier MM, et al. PHD2 mutation and congenital erythrocytosis with paraganglioma. N Engl J Med 359(25):2685–92, 2008.
    Article PubMed CAS Google Scholar
  23. Welander J, Soderkvist P, Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer 18(6):253–76, 2011.
    Article Google Scholar
  24. Cascon A, Pita G, Burnichon N, et al. Genetics of pheochromocytoma and paraganglioma in Spanish patients. J Clin Endocrinol Metab 94(5):1701–5, 2009.
    Article PubMed CAS Google Scholar
  25. Burnichon N, Rohmer V, Amar L, et al. The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. J Clin Endocrinol Metab 94(8):2817–27, 2009.
    Article PubMed CAS Google Scholar
  26. van Nederveen FH, Korpershoek E, Lenders JWM, et al. Somatic SDHB mutation in an extraadrenal pheochromocytoma. N Engl J Med 357(3):306–8, 2007.
    Article PubMed Google Scholar
  27. Baysal BE, Ferrell RE, Willett-Brozick JE, et al. Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. Science 287(5454):848–51, 2000.
    Article PubMed CAS Google Scholar
  28. Blank A, Schmitt AM, Korpershoek E, et al. SDHB loss predicts malignancy in pheochromocytomas/sympathethic paragangliomas, but not through hypoxia signalling. Endocr Relat Cancer 17(4):919–28, 2010.
    Article PubMed Google Scholar
  29. Bayley J-P, Kunst HPM, Cascon A, et al. SDHAF2 mutations in familial and sporadic paraganglioma and phaeochromocytoma. Lancet Oncol 11(4):366–72, 2010.
    Article PubMed CAS Google Scholar
  30. Schiavi F, Boedeker CC, Bausch B, et al. Predictors and prevalence of paraganglioma syndrome associated with mutations of the SDHC gene. JAMA 294(16):2057–63, 2005.
    Article PubMed CAS Google Scholar
  31. Guzy RD, Sharma B, Bell E, et al. Loss of the SdhB, but Not the SdhA, subunit of complex II triggers reactive oxygen species-dependent hypoxia-inducible factor activation and tumorigenesis. Mol Cell Biol 28(2):718–31, 2008.
    Article PubMed CAS Google Scholar
  32. Amar L, Baudin E, Burnichon N, et al. Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas. J Clin Endocrinol Metab 92(10):3822–8, 2007.
    Article PubMed CAS Google Scholar
  33. Bolland M, Benn D, Croxson M, et al. Gastrointestinal stromal tumour in succinate dehydrogenase subunit B mutation-associated familial phaeochromocytoma/paraganglioma. J Surg 76(8):763–4, 2006.
    Google Scholar
  34. Douwes Dekker PB, Hogendoorn PCW, Kuipers-Dijkshoorn N, et al. SDHD mutations in head and neck paragangliomas result in destabilization of complex II in the mitochondrial respiratory chain with loss of enzymatic activity and abnormal mitochondrial morphology. J Pathol 201(3):480–6, 2003.
    Article PubMed CAS Google Scholar
  35. Oostveen FG, Au HC, Meijer PJ, et al. A Chinese hamster mutant cell line with a defect in the integral membrane protein CII-3 of complex II of the mitochondrial electron transport chain. Biol Chem 270(44):26104–8, 1995.
    Article CAS Google Scholar
  36. Bullis BL, Lemire BD. Isolation and characterization of the Saccharomyces cerevisiae SDH4 gene encoding a membrane anchor subunit of succinate dehydrogenase. J Biol Chem 269(9):6543–9, 1994.
    PubMed CAS Google Scholar
  37. Gill AJ, Chou A, Vilain R, et al. Immunohistochemistry for SDHB divides gastrointestinal stromal tumors (GISTs) into 2 distinct types. Am J Surg Pathol 34(5):636–44, 2010.
    PubMed Google Scholar

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