Abstract | Context:
Lynch syndrome (LS) is a cancer-predisposing syndrome caused by germline mutations in genes involved in DNA mismatch repair (MMR). Patients are at high risk for several types of cancer, but pituitary tumors have not previously been reported. Case: A 51-year-old man with LS (MSH2 mutation) and a history of colon carcinoma presented with severe Cushing disease and a locally aggressive pituitary tumor. The tumor harbored a mutation consistent with the patient's germline mutation and displayed defect MMR function. Sixteen months later, the tumor had developed into a carcinoma with widespread liver metastases. The patient prompted us to perform a nationwide study in LS. Nationwide Study: A diagnosis consistent with a pituitary tumor was sought for in the Swedish National Patient Registry. In 910 patients with LS, representing all known cases in Sweden, another two clinically relevant pituitary tumors were found: an invasive nonsecreting macroadenoma and a microprolactinoma (i.e., in total three tumors vs. one expected). Conclusion:
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Authors | Daniel Bengtsson, Patrick Joost, Christos Aravidis, Marie Askmalm Stenmark, Ann-Sofie Backman, Beatrice Melin, Jenny von Salomé, Theofanis Zagoras, Samuel Gebre-Medhin, Pia Burman |
Journal | The Journal of clinical endocrinology and metabolism
(J Clin Endocrinol Metab)
Vol. 102
Issue 11
Pg. 3928-3932
(11 01 2017)
ISSN: 1945-7197 [Electronic] United States |
PMID | 28938458
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2017 Endocrine Society |
Topics |
- Carcinoma
(genetics, pathology)
- Cohort Studies
- Colorectal Neoplasms, Hereditary Nonpolyposis
(genetics, pathology)
- Corticotrophs
(pathology)
- DNA Mismatch Repair
(genetics)
- Germ-Line Mutation
- Humans
- Liver Neoplasms
(genetics, secondary)
- Male
- Middle Aged
- Pituitary Neoplasms
(genetics, pathology)
- Registries
- Sweden
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