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Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort
Linköping University, Department of Clinical and Experimental Medicine, Division of Surgery, Orthopedics and Oncology. Linköping University, Faculty of Medicine and Health Sciences. Kalmar County Hospital, Sweden.
Lund University, Sweden.
Uppsala University, Sweden.
Linköping University, Department of Clinical and Experimental Medicine, Division of Cell Biology. Linköping University, Faculty of Medicine and Health Sciences. Region Östergötland, Center for Diagnostics, Department of Clinical Pathology and Clinical Genetics. Off Medical Serv, Sweden; Lund University, Sweden.
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2017 (English)In: Journal of Clinical Endocrinology and Metabolism, ISSN 0021-972X, E-ISSN 1945-7197, Vol. 102, no 11, 3928-3932 p.Article in journal (Refereed) Published
Abstract [en]

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 patients 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: Germline mutations in MMR genes may contribute to the development and/or the clinical course of pituitary tumors. Because tumors with MMR mutations are susceptible to treatment with immune checkpoint inhibitors, we suggest to actively ask for a family history of LS in the workup of patients with aggressive pituitary tumors.

Place, publisher, year, edition, pages
OXFORD UNIV PRESS INC , 2017. Vol. 102, no 11, 3928-3932 p.
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Cancer and Oncology
Identifiers
URN: urn:nbn:se:liu:diva-143246DOI: 10.1210/jc.2017-01401ISI: 000414558500005PubMedID: 28938458OAI: oai:DiVA.org:liu-143246DiVA: diva2:1160429
Note

Funding Agencies|Medical Research Council of Southeast Sweden; Eber and Ingrid Kinnemo foundation; Anna and Sven Lundbergs Stiftelse, Lund University

Available from: 2017-11-27 Created: 2017-11-27 Last updated: 2017-11-27

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Bengtsson, DanielStenmark Askmalm, Marie
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Division of Surgery, Orthopedics and OncologyFaculty of Medicine and Health SciencesDivision of Cell BiologyDepartment of Clinical Pathology and Clinical Genetics
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