CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report

Anna Szeliga, Aleksandra Pralat, Wiktoria Witczak, Agnieszka Podfigurna, Cezary Wojtyla, Anna Kostrzak and Blazej Meczekalski
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Anna Szeliga: Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
Aleksandra Pralat: Students’ Scientific Society of the Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
Wiktoria Witczak: Students’ Scientific Society of the Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
Agnieszka Podfigurna: Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
Cezary Wojtyla: International Prevention Research Institute—Collaborating Centre, State University of Applied Sciences, 62-800 Kalisz, Poland
Anna Kostrzak: Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
Blazej Meczekalski: Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland

IJERPH, 2020, vol. 17, issue 12, 1-8

Abstract: Background: Many studies show the occurrence of several multiple endocrine neoplasia syndromes caused by different mutations, for example, in MEN1 and RET genes. Nevertheless, there are less common mutations causing multiple endocrine glands tumors. Examples of such mutations are CHEK2 gene mutations, causing breast, kidney, gastric, colorectal, prostate, lung, ovarian, and thyroid cancers. Case description: In 2005, a 30-year-old woman was admitted to the hospital due to uncontrolled hypertension and obesity. Performed tests have shown ACTH (adrenocorticotropic hormone)—independent micronodular adrenal hyperplasia (AIMAH) as a cause. In 2010, the further diagnostic analysis revealed Cushing’s disease caused by ACTH-secreting pituitary microadenoma. Additionally, in 2011, the patient underwent the strumectomy of multinodular struma. Papillary thyroid carcinoma was found in the excised tissue. In 2018, transvaginal ultrasonography revealed a tumor of the right ovary. After a performed hysterectomy with bilateral salpingo-oophorectomy, the histopathology result has shown female adnexal tumors of probable Wolffian origin (FATWO) located in the broad ligament of the uterus. Due to the history of multiglandular diseases, the patient was referred to genetic testing. We found a positive pathogenic mutation in CHEK2-suppressor gene involved in DNA repair, cell cycle arrest, and apoptosis in response to DNA damage. Conclusion: CHEK2 variants may predispose to a range of endocrine glands tumors, including those identified in our patient. Multiple endocrine glands tumors, as in the presented patient, are a serious problem of public health, due to numerous hospitalizations and necessary repeated surgical treatments. Moreover, the association between CHEK2 and ovarian cancer can be a serious problem with reproductive health.

Keywords: CHEK2; MEN; Cushing syndrome; hypertension; multiple endocrine glands tumors (search for similar items in EconPapers)
JEL-codes: I I1 I3 Q Q5 (search for similar items in EconPapers)
Date: 2020
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