Abstract | PURPOSE: PATIENTS AND METHODS: RESULTS: Pathogenic germline SDHD mutations were identified in three patients: two (2.0%) of the 102 apparently sporadic pheochromocytoma patients and one patient with a family history of PGL. These patients presented with multifocal disease (two of three multifocal patients) or with a single adrenal tumor (one of 82 patients). In the literature, mutations are mostly found in patients </= 35 years of age or presenting with multifocal or extra-adrenal disease. All patients with an SDHD mutation developed extra-adrenal tumors ( pheochromocytomas or PGLs) at presentation or during follow-up. CONCLUSION:
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Authors | Hilde Dannenberg, Francien H van Nederveen, Mustaffa Abbou, Albert A Verhofstad, Paul Komminoth, Ronald R de Krijger, Winand N M Dinjens |
Journal | Journal of clinical oncology : official journal of the American Society of Clinical Oncology
(J Clin Oncol)
Vol. 23
Issue 9
Pg. 1894-901
(Mar 20 2005)
ISSN: 0732-183X [Print] United States |
PMID | 15774781
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
- Membrane Proteins
- SDHD protein, human
- Succinate Dehydrogenase
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Topics |
- Adolescent
- Adrenal Gland Neoplasms
(diagnosis, genetics)
- Adult
- Aged
- Base Sequence
- Female
- Germ-Line Mutation
(genetics)
- Humans
- Male
- Membrane Proteins
(genetics)
- Middle Aged
- Pheochromocytoma
(diagnosis, genetics)
- Polymorphism, Single-Stranded Conformational
- Retrospective Studies
- Succinate Dehydrogenase
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