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Genetic Testing in Pheochromocytoma or Functional Paraganglioma

Journal of clinical oncology, 2005-12, Vol.23 (34), p.8812-8818 [Peer Reviewed Journal]

2006 INIST-CNRS ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/JCO.2005.03.1484 ;PMID: 16314641

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Title:
Genetic Testing in Pheochromocytoma or Functional Paraganglioma
Author: AMAR, Laurence ; BERTHERAT, Jérome ; NICCOLI-SIRE, Patricia ; RICHARD, Stéphane ; ROHMER, Vincent ; SADOUL, Jean-Louis ; STROMPF, Laurence ; SCHLUMBERGER, Martin ; BERTAGNA, Xavier ; PLOUIN, Pierre-Francois ; JEUNEMAITRE, Xavier ; GIMENEZ-ROQUEPLO, Anne-Paule ; BAUDIN, Eric ; AJZENBERG, Christiane ; BRESSAC-DE PAILLERETS, Brigitte ; CHABRE, Olivier ; CHAMONTIN, Bernard ; DELEMER, Brigitte ; GIRAUD, Sophie ; MURAT, Amaud
Subjects: Adolescent ; Adrenal Gland Neoplasms - diagnosis ; Adrenal Gland Neoplasms - genetics ; Adrenals. Adrenal axis. Renin-angiotensin system (diseases) ; Adult ; Aged ; Aged, 80 and over ; Algorithms ; Biological and medical sciences ; Child ; Endocrinopathies ; Female ; France ; Gene Frequency ; Genetic Predisposition to Disease - genetics ; Genetic Testing - methods ; Genotype ; Germ-Line Mutation - genetics ; Humans ; Iron-Sulfur Proteins - genetics ; Male ; Medical sciences ; Membrane Proteins - genetics ; Middle Aged ; Neurofibromatosis 1 - diagnosis ; Neurofibromatosis 1 - genetics ; Non tumoral diseases. Target tissue resistance. Benign neoplasms ; Paraganglioma - diagnosis ; Paraganglioma - genetics ; Phenotype ; Pheochromocytoma - diagnosis ; Pheochromocytoma - genetics ; Protein Subunits - genetics ; Proto-Oncogene Proteins c-ret - genetics ; Succinate Dehydrogenase - genetics ; Tumors ; Von Hippel-Lindau Tumor Suppressor Protein - genetics
Is Part Of: Journal of clinical oncology, 2005-12, Vol.23 (34), p.8812-8818
Description: To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl). We studied 314 patients with a pheo or a functional pgl, including 56 patients having a family history and/or a syndromic presentation and 258 patients having an apparently sporadic presentation. Clinical data and blood samples were collected, and all five major pheo-pgl susceptibility genes (RET, VHL, SDHB, SDHD, and SDHC) were screened. Neurofibromatosis type 1 was diagnosed from phenotypic criteria. We have identified 86 patients (27.4%) with a hereditary tumor. Among the 56 patients with a family/syndromic presentation, 13 have had neurofibromatosis type 1, and germline mutations on the VHL, RET, SDHD, and SDHB genes were present in 16, 15, nine, and three patients, respectively. Among the 258 patients with an apparently sporadic presentation, 30 (11.6%) had a germline mutation (18 patients on SDHB, nine patients on VHL, two patients on SDHD, and one patient on RET). Mutation carriers were younger and more frequently had bilateral or extra-adrenal tumors. In patients with an SDHB mutation, the tumors were larger, more frequently extra-adrenal, and malignant. Genetic testing oriented by family/sporadic presentation should be proposed to all patients with pheo or functional pgl. We suggest an algorithm that would allow the confirmation of suspected inherited disease as well as the diagnosis of unexpected inherited disease.
Publisher: Baltimore, MD: American Society of Clinical Oncology
Language: English
Identifier: ISSN: 0732-183X
EISSN: 1527-7755
DOI: 10.1200/JCO.2005.03.1484
PMID: 16314641
Source: Geneva Foundation Free Medical Journals at publisher websites
MEDLINE

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Genetic Testing in Pheochromocytoma or Functional Paraganglioma

2006 INIST-CNRS ;ISSN: 0732-183X ;EISSN: 1527-7755 ;DOI: 10.1200/JCO.2005.03.1484 ;PMID: 16314641

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