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

Bengtsson, Daniel LU ; Joost, Patrick LU ; Aravidis, Christos; Askmalm Stenmark, Marie LU ; Backman, Ann Sofie; Melin, Beatrice; von Salomé, Jenny; Zagoras, Theofanis; Gebre-Medhin, Samuel LU and Burman, Pia LU (2017) In The Journal of clinical endocrinology and metabolism 102(11). p.3928-3932
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... (More)

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: 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.

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publication status
published
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in
The Journal of clinical endocrinology and metabolism
volume
102
issue
11
pages
5 pages
publisher
The Endocrine Society
external identifiers
  • scopus:85038030304
  • wos:000414558500005
ISSN
1945-7197
DOI
10.1210/jc.2017-01401
language
English
LU publication?
yes
id
6c6c581e-f1c9-4787-8d84-da6e2d042ccc
date added to LUP
2018-01-11 13:20:17
date last changed
2018-06-24 05:19:51
@article{6c6c581e-f1c9-4787-8d84-da6e2d042ccc,
  abstract     = {<p>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.</p><p>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.</p><p>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).</p><p>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.</p>},
  author       = {Bengtsson, Daniel and Joost, Patrick and Aravidis, Christos and Askmalm Stenmark, Marie and Backman, Ann Sofie and Melin, Beatrice and von Salomé, Jenny and Zagoras, Theofanis and Gebre-Medhin, Samuel and Burman, Pia},
  issn         = {1945-7197},
  language     = {eng},
  month        = {11},
  number       = {11},
  pages        = {3928--3932},
  publisher    = {The Endocrine Society},
  series       = {The Journal of clinical endocrinology and metabolism},
  title        = {Corticotroph Pituitary Carcinoma in a Patient With Lynch Syndrome (LS) and Pituitary Tumors in a Nationwide LS Cohort},
  url          = {http://dx.doi.org/10.1210/jc.2017-01401},
  volume       = {102},
  year         = {2017},
}