Abstract | CONTEXT: OBJECTIVE: The objective was to investigate which nonparaganglionic tumors belong to the SDH-associated tumor spectrum. DESIGN: This was a retrospective cohort study. SETTING: The setting was a tertiary referral center. PATIENTS: Patients included all consecutive SDHA/SDHB/SDHC and SDHD mutation carriers followed at the Department of Endocrinology of the Leiden University Medical Center who were affected by non- pheochromocytoma/ paraganglioma solid tumors. MAIN OUTCOME MEASURES: Main outcome measures were SDHA/SDHB immunohistochemistry, mutation analysis, and loss of heterozygosity analysis of the involved SDH-encoding genes. RESULTS: CONCLUSIONS:
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Authors | Nicolasine D Niemeijer, Thomas G Papathomas, Esther Korpershoek, Ronald R de Krijger, Lindsey Oudijk, Hans Morreau, Jean-Pierre Bayley, Frederik J Hes, Jeroen C Jansen, Winand N M Dinjens, Eleonora P M Corssmit |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 100
Issue 10
Pg. E1386-93
(Oct 2015)
ISSN: 1945-7197 [Electronic] United States |
PMID | 26259135
(Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
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Chemical References |
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Topics |
- Adult
- Aged
- DNA Mutational Analysis
- Female
- Humans
- Loss of Heterozygosity
- Male
- Middle Aged
- Mutation
- Neuroendocrine Tumors
(genetics, pathology)
- Pancreatic Neoplasms
(genetics, pathology)
- Pedigree
- Pituitary Neoplasms
(genetics, pathology)
- Retrospective Studies
- Succinate Dehydrogenase
(genetics)
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