PMID- 22207168
OWN - NLM
STAT- MEDLINE
DCOM- 20120521
LR  - 20180614
IS  - 1648-9144 (Electronic)
IS  - 1010-660X (Linking)
VI  - 47
IP  - 11
DP  - 2011
TI  - Carcinoma of two parathyroid glands caused by a novel MEN1 gene mutation - a rare 
      feature of the MEN 1 syndrome.
PG  - 635-9
AB  - 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.
FAU - Juodele, Linas
AU  - Juodele L
AD  - Department of Oncology, Medical Academy, Lithuanian University of Health 
      Sciences, Eiveniu 2, 50028 Kaunas, Lithuania.
FAU - Serapinas, Danielius
AU  - Serapinas D
FAU - Sabaliauskas, Gintaras
AU  - Sabaliauskas G
FAU - Krasauskiene, Aurelija
AU  - Krasauskiene A
FAU - Krasauskas, Virgilijus
AU  - Krasauskas V
FAU - Verkauskiene, Rasa
AU  - Verkauskiene R
FAU - Barkauskiene, Diana
AU  - Barkauskiene D
FAU - Juozaityte, Elona
AU  - Juozaityte E
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20111230
PL  - Switzerland
TA  - Medicina (Kaunas)
JT  - Medicina (Kaunas, Lithuania)
JID - 9425208
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Carcinoma/*genetics/*pathology/surgery
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/*pathology/surgery
MH  - Parathyroid Glands/*pathology
MH  - Pedigree
MH  - Proto-Oncogene Proteins/*genetics
EDAT- 2011/12/31 06:00
MHDA- 2012/05/23 06:00
CRDT- 2011/12/31 06:00
PHST- 2011/12/31 06:00 [entrez]
PHST- 2011/12/31 06:00 [pubmed]
PHST- 2012/05/23 06:00 [medline]
AID - 11123002 [pii]
PST - ppublish
SO  - Medicina (Kaunas). 2011;47(11):635-9. Epub 2011 Dec 30.