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Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes.

Benn, Diana E, (författare)
Department of Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney 2006, Australia
Gimenez-Roqueplo, Anne-Paule, (författare)
Department of Genetics, Hôpital Européen Georges Pompidou, Assistance Publique des Hôpitaux de Paris, L’Institut National de la Santé et de la Recherche Médicale (INSERM) U36, Collège de France, University Paris 5, Paris 75015, France
Reilly, Jennifer R, (författare)
Department of Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney 2006, Australia
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Bertherat, Jérôme, (författare)
Department of Endocrinology, INSERM U567, Hôpital Cochin Assistance Publique des Hôpitaux de Paris, University Paris 5, Paris 75014, France
Burgess, John, (författare)
Department of Endocrinology, Royal Hobart Hospital, Tasmania 7001, Australia
Byth, Karen, (författare)
National Health and Medical Research Council Clinical Trials Centre, University of Sydney, Sydney 2006, Australia
Croxson, Michael, (författare)
Department of Endocrinology, Greenlane Clinical Centre, Auckland, New Zealand
Dahia, Patricia L M, (författare)
Departments of Medicine and Cellular and Structural Biology, University of Texas Health Science Center, San Antonio, Texas 78229-3900
Elston, Marianne, (författare)
Department of Endocrinology, Waikato Hospital, Hamilton, New Zealand
Gimm, Oliver, (författare)
Department of General, Visceral and Vascular Surgery, Martin Luther University Halle-Wittenberg, Halle 06097, Germany
Henley, David, (författare)
Department of Endocrinology and Diabetes, Sir Charles Gairdner Hospital, Nedlands, Western Australia 6009, Australia
Herman, Philippe, (författare)
Department of Otorhinolaryngology and Head and Neck Surgery, Hôpital Lariboisière, Assistance Publique des Hopitaux de Paris, Paris 75010, France
Murday, Victoria, (författare)
West of Scotland, Regional Genetics Services, Yorkhill G3 8SJ, Scotland
Niccoli-Sire, Patricia, (författare)
Department of Endocrinology, Hôpital de la Timone, Assistance Publique des Hôpitaux de Marseille, Marseille 13385, France
Pasieka, Janice L, (författare)
Department of Surgery, Faculty of Medicine, University of Calgary, Calgary, Canada T2N 1N4
Rohmer, Vincent, (författare)
Department of Endocrinology, Hôpital d’Angers, Angers 49033, France
Tucker, Kathy, (författare)
Hereditary Cancer Clinic, Prince of Wales Hospital and School of Medicine, University of New South Wales, Sydney, New South Wales 2052, Australia
Jeunemaitre, Xavier, (författare)
Department of Genetics, Hôpital Européen Georges Pompidou, Assistance Publique des Hôpitaux de Paris, L’Institut National de la Santé et de la Recherche Médicale (INSERM) U36, Collège de France, University Paris 5, Paris 75015, France
Marsh, Deborah J, (författare)
Department of Cancer Genetics, Kolling Institute of Medical Research, Royal North Shore Hospital and University of Sydney, Sydney 2006, Australia
Plouin, Pierre-François, (författare)
Department Hypertension, Hôpital Européen Georges Pompidou, Assistance Publique des Hôpitaux de Paris, L’Institut National de la Santé et de la Recherche Médicale (INSERM) U36, Collège de France, University Paris 5, Paris 75015, France
Robinson, Bruce G, (författare)
Department of Endocrinology, Royal North Shore Hospital, Sydney 2065, Australia
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2006
Engelska.
Ingår i: Journal of Clinical Endocrinology and Metabolism. - 0021-972X. ; 91:3, s. 827-36
  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • CONTEXT: The identification of mutations in genes encoding peptides of succinate dehydrogenase (SDH) in pheochromocytoma/paraganglioma syndromes has necessitated clear elucidation of genotype-phenotype associations.OBJECTIVE: Our objective was to determine genotype-phenotype associations in a cohort of patients with pheochromocytoma/paraganglioma syndromes and succinate dehydrogenase subunit B (SDHB) or subunit D (SDHD) mutations.DESIGN, SETTING, AND PARTICIPANTS: The International SDH Consortium studied 116 individuals (83 affected and 33 clinically unaffected) from 62 families with pheochromocytoma/paraganglioma syndromes and SDHB or SDHD mutations. Clinical data were collected between August 2003 and September 2004 from tertiary referral centers in Australia, France, New Zealand, Germany, United States, Canada, and Scotland.MAIN OUTCOME MEASURES: Data were collected on patients with pheochromocytomas and/or paragangliomas with respect to onset of disease, diagnosis, genetic testing, surgery, pathology, and disease progression. Clinical features were evaluated for evidence of genotype-phenotype associations, and penetrance was determined.RESULTS: SDHB mutation carriers were more likely than SDHD mutation carriers to develop extraadrenal pheochromocytomas and malignant disease, whereas SDHD mutation carriers had a greater propensity to develop head and neck paragangliomas and multiple tumors. For the index cases, there was no difference between 43 SDHB and 19 SDHD mutation carriers in the time to first diagnosis (34 vs. 28 yr, respectively; P = 0.3). However, when all mutation carriers were included (n = 112), the estimated age-related penetrance was different for SDHB vs. SDHD mutation carriers (P = 0.008).CONCLUSIONS: For clinical follow-up, features of SDHB mutation-associated disease include a later age of onset, extraadrenal (abdominal or thoracic) tumors, and a higher rate of malignancy. In contrast, SDHD mutation carriers, in addition to head and neck paragangliomas, should be observed for multifocal tumors, infrequent malignancy, and the possibility of extraadrenal pheochromocytoma.

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MEDICIN OCH HÄLSOVETENSKAP  (hsv//swe)
MEDICAL AND HEALTH SCIENCES  (hsv//eng)

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