Next Article in Journal
Investigation of the Antimicrobial Activity of Rhaponticum (Rhaponticum Carthamoides D.C. Iljin) and Shrubby Cinquefoil (Potentilla Fruticosa L.)
Previous Article in Journal
Concomitant Autologous Chondrocyte Implantation with Osteochondral Grafting for Treatment of a Massive Osteochondral Defect in the Bilateral Knees of a Child
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
Medicina
Volume 47
Issue 11
10.3390/medicina47110092
medicina-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles thumb_up
...
Endorse textsms
...
Comment
Medicina is published by MDPI from Volume 54 Issue 1 (2018). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they 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.
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
Article

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

by
Linas Juodelė
1,*,
Danielius Serapinas
2,
Gintaras Sabaliauskas
3,
Aurelija Krasauskienė
4,
Virgilijus Krasauskas
5,
Rasa Verkauskienė
6,
Diana Barkauskienė
2 and
Elona Juozaitytė
1
1
Department of Oncology, Medical Academy, Lithuanian University of Health Sciences
2
Department of Pulmonology and Immunology, Medical Academy, Lithuanian University of Health Sciences
3
Department of Pathological Anatomy, Medical Academy, Lithuanian University of Health Sciences
4
Institute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences
5
Department of Surgery, Medical Academy, Lithuanian University of Health Sciences
6
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
Submission received: 20 April 2011 / Accepted: 29 November 2011 / Published: 4 December 2011
Versions Notes

Abstract

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

Share and Cite

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. https://doi.org/10.3390/medicina47110092

AMA 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(11):92. https://doi.org/10.3390/medicina47110092

Chicago/Turabian Style

Juodelė, Linas, Danielius Serapinas, Gintaras Sabaliauskas, Aurelija Krasauskienė, Virgilijus Krasauskas, Rasa Verkauskienė, Diana Barkauskienė, and Elona Juozaitytė. 2011. "Carcinoma of Two Parathyroid Glands Caused by a Novel MEN1 Gene Mutation – a Rare Feature of the MEN 1 Syndrome" Medicina 47, no. 11: 92. https://doi.org/10.3390/medicina47110092

APA Style

Juodelė, L., Serapinas, D., Sabaliauskas, G., Krasauskienė, A., Krasauskas, V., Verkauskienė, R., Barkauskienė, D., & Juozaitytė, E. (2011). Carcinoma of Two Parathyroid Glands Caused by a Novel MEN1 Gene Mutation – a Rare Feature of the MEN 1 Syndrome. Medicina, 47(11), 92. https://doi.org/10.3390/medicina47110092

Article Metrics

Back to TopTop