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Case Report

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

1
Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
2
Students’ Scientific Society of the Department of Gynecological Endocrinology, Poznan University of Medical Sciences, 61-701 Poznan, Poland
3
International Prevention Research Institute—Collaborating Centre, State University of Applied Sciences, 62-800 Kalisz, Poland
4
Department of Oncological Gynecology and Obstetrics, Center of Postgraduate Medical Education, 00-416 Warsaw, Poland
*
Author to whom correspondence should be addressed.
Contribution of authors is equal.
Int. J. Environ. Res. Public Health 2020, 17(12), 4397; https://doi.org/10.3390/ijerph17124397
Received: 21 May 2020 / Revised: 9 June 2020 / Accepted: 17 June 2020 / Published: 18 June 2020
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. View Full-Text
Keywords: CHEK2; MEN; Cushing syndrome; hypertension; multiple endocrine glands tumors CHEK2; MEN; Cushing syndrome; hypertension; multiple endocrine glands tumors
MDPI and ACS Style

Szeliga, A.; Pralat, A.; Witczak, W.; Podfigurna, A.; Wojtyla, C.; Kostrzak, A.; Meczekalski, B. CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report. Int. J. Environ. Res. Public Health 2020, 17, 4397. https://doi.org/10.3390/ijerph17124397

AMA Style

Szeliga A, Pralat A, Witczak W, Podfigurna A, Wojtyla C, Kostrzak A, Meczekalski B. CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report. International Journal of Environmental Research and Public Health. 2020; 17(12):4397. https://doi.org/10.3390/ijerph17124397

Chicago/Turabian Style

Szeliga, Anna, Aleksandra Pralat, Wiktoria Witczak, Agnieszka Podfigurna, Cezary Wojtyla, Anna Kostrzak, and Blazej Meczekalski. 2020. "CHEK2 Mutation in Patient with Multiple Endocrine Glands Tumors. Case Report" International Journal of Environmental Research and Public Health 17, no. 12: 4397. https://doi.org/10.3390/ijerph17124397

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