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

Linas Juodelė¹, Danielius Serapinas², Gintaras Sabaliauskas³, Aurelija Krasauskienė⁴, Virgilijus Krasauskas⁵, Rasa Verkauskienė⁶, Diana Barkauskienė², Elona Juozaitytė¹

¹Department of Oncology, Medical Academy, Lithuanian University of Health Sciences, ²Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences, ³Department of Pathological Anatomy, Medical Academy, Lithuanian University of Health Sciences, ⁴Institute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, ⁵Department of Surgery, Medical Academy, Lithuanian University of Health Sciences, ⁶Department of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, Lithuania

Key words: multiple endocrine neoplasia type 1; parathyroid carcinoma; insulinoma; MEN1 gene.

Summary. 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.

Correspondence to L. Juodelė, Department of Oncology, Medical Academy, Lithuanian University of Health Sciences, Eivenių 2, 50028 Kaunas, Lithuania. E-mail: juodele@hotmail.com

Received 20 April 2011, accepted 29 November 2011