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Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort

Bengtsson, Daniel, 1975- (författare)
Linköping University,Linköpings universitet,Avdelningen för Kirurgi, Ortopedi och Onkologi,Medicinska fakulteten,Avdelningen för kirurgi, ortopedi och onkologi,Department of Internal Medicine, Kalmar County Hospital, Kalmar, Sweden,Linkoping Univ, Dept Clin & Expt Med, S-58183 Linkoping, Sweden.;Kalmar Cty Hosp, Dept Internal Med, S-39185 Kalmar, Sweden.
Joost, Patrick (författare)
Lund University,Lunds universitet,Bröstcancer-genetik,Sektion I,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Breastcancer-genetics,Section I,Department of Clinical Sciences, Lund,Faculty of Medicine,Department of Oncology and Pathology, Institute of Clinical Sciences, Lund University, Lund, Sweden
Aravidis, Christos (författare)
Uppsala University,Uppsala universitet,Medicinsk genetik och genomik,Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden
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Stenmark Askmalm, Marie (författare)
Linköping University,Lund University,Lunds universitet,Linköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk genetik,Department of Clinical Genetics, Office for Medical Services, Lund, Sweden; Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden,Linkoping Univ, Div Clin Genet, Dept Clin & Expt Med, S-58185 Linkoping, Sweden.;Off Med Serv, Dept Clin Genet, S-22184 Lund, Sweden.;Lund Univ, Div Clin Genet, Dept Lab Med, S-22184 Lund, Sweden.,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine
Backman, Ann-Sofie (författare)
Karolinska Institutet,Centrum for Digestive Diseases, Karolinska University Hospital, Solna, Stockholm, Sweden; Institution of Medicine, Karolinska Institutet, Solna, Stockholm, Sweden
Melin, Beatrice (författare)
Umeå universitet,Umeå University,Department of Radiation Sciences, Oncology, Umeå University, Umeå, Sweden,Onkologi
von Salome, Jenny (författare)
Karolinska Institutet,Department of Molecular Medicine and Surgery, Karolinska Institutet, Solna, Stockholm, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden
Zagoras, Theofanis (författare)
Department of Clinical Pathology and Genetics, Sahlgrenska University Hospital, Gothenburg, Sweden,Sahlgrens Univ Hosp, Dept Clin Pathol & Genet, S-41345 Gothenburg, Sweden.
Gebre-Medhin, Samuel (författare)
Lund University,Lunds universitet,Avdelningen för klinisk genetik,Institutionen för laboratoriemedicin,Medicinska fakulteten,Division of Clinical Genetics,Department of Laboratory Medicine,Faculty of Medicine,Division of Clinical Genetics, Department of Laboratory Medicine, Lund University, Lund, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Solna, Stockholm, Sweden
Burman, Pia (författare)
Lund University,Lunds universitet,Genomik, diabetes och endokrinologi,Forskargrupper vid Lunds universitet,Genomics, Diabetes and Endocrinology,Lund University Research Groups,Department of Endocrinology, Skåne University Hospital, Malmö, University of Lund, Malmö, Sweden
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 (creator_code:org_t)
2017-08-18
2017
Engelska.
Ingår i: Journal of Clinical Endocrinology and Metabolism. - : OXFORD UNIV PRESS INC. - 0021-972X .- 1945-7197. ; 102:11, s. 3928-3932
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  • Tidskriftsartikel (refereegranskat)
Abstract Ämnesord
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  • 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.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Cancer och onkologi (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Cancer and Oncology (hsv//eng)

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