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Medicina is published by MDPI from Volume 54 Issue 1 (2018). Articles in this Issue were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence. Articles are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences, and Vilnius University.
Open AccessArticle

Carcinoma of Two Parathyroid Glands Caused by a Novel MEN1 Gene Mutation – a Rare Feature of the MEN 1 Syndrome

1
Department of Oncology, Medical Academy, Lithuanian University of Health Sciences
2
Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences
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Department of Pathological Anatomy, Medical Academy, Lithuanian University of Health Sciences
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Institute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences
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Department of Surgery, Medical Academy, Lithuanian University of Health Sciences
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Department of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, Lithuania
*
Author to whom correspondence should be addressed.
Medicina 2011, 47(11), 92; https://doi.org/10.3390/medicina47110092
Received: 20 April 2011 / Accepted: 29 November 2011 / Published: 4 December 2011
Multiple endocrine neoplasia type 1 (MEN 1) is a rare syndrome inherited in an autosomal dominant pattern, characterized by combinations of tumors of the parathyroid glands, pituitary gland, and pancreatic islet cells and more rare tumors of endocrine organs and nonendocrine tissues. Germline mutations in the MEN1 gene are responsible for the MEN 1 syndrome, leading to an inactive form of menin protein. Benign lesions of the parathyroid glands are characteristic in patients with the MEN 1 syndrome; however, patients can develop parathyroid carcinomas very rarely. This report presents a clinical case of the MEN 1 syndrome: a 39-year-old woman underwent surgery for carcinoma of two parathyroid glands as well as was treated for pituitary prolactinoma, which caused infertility, and malignant insulinoma; the patient had multiple subcutaneous lipomas as well. Genetic analysis revealed a novel germline mutation in the MEN1 gene – a nucleotide insertion at codon 43 in exon 2 (c.129insA), which caused the occurrence of the MEN1 syndrome. The clinical case of the MEN 1 syndrome presented here is relevant in gathering the data on etiopathogenesis of not only MEN 1 syndrome, but an extremely rare pathology – parathyroid carcinoma – as well.
Keywords: multiple endocrine neoplasia type 1; parathyroid carcinoma; insulinoma; MEN1 gene multiple endocrine neoplasia type 1; parathyroid carcinoma; insulinoma; MEN1 gene
MDPI and ACS Style

Juodelė, L.; Serapinas, D.; Sabaliauskas, G.; Krasauskienė, A.; Krasauskas, V.; Verkauskienė, R.; Barkauskienė, D.; Juozaitytė, E. Carcinoma of Two Parathyroid Glands Caused by a Novel MEN1 Gene Mutation – a Rare Feature of the MEN 1 Syndrome. Medicina 2011, 47, 92.

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