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      An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis.

      1 , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , ,
      The Lancet. Oncology
      Elsevier BV

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          Abstract

          Phaeochromocytomas and paragangliomas are neuro-endocrine tumours that occur sporadically and in several hereditary tumour syndromes, including the phaeochromocytoma-paraganglioma syndrome. This syndrome is caused by germline mutations in succinate dehydrogenase B (SDHB), C (SDHC), or D (SDHD) genes. Clinically, the phaeochromocytoma-paraganglioma syndrome is often unrecognised, although 10-30% of apparently sporadic phaeochromocytomas and paragangliomas harbour germline SDH-gene mutations. Despite these figures, the screening of phaeochromocytomas and paragangliomas for mutations in the SDH genes to detect phaeochromocytoma-paraganglioma syndrome is rarely done because of time and financial constraints. We investigated whether SDHB immunohistochemistry could effectively discriminate between SDH-related and non-SDH-related phaeochromocytomas and paragangliomas in large retrospective and prospective tumour series.

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          Author and article information

          Journal
          Lancet Oncol
          The Lancet. Oncology
          Elsevier BV
          1474-5488
          1470-2045
          Aug 2009
          : 10
          : 8
          Affiliations
          [1 ] Department of Pathology, Josephine Nefkens Institute, Erasmus MC, University Medical Center, Rotterdam, Netherlands.
          Article
          S1470-2045(09)70164-0 NIHMS750213
          10.1016/S1470-2045(09)70164-0
          4718191
          19576851
          892711f4-1b37-46bc-a0c8-1ffabc6f6d9d
          History

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