PMID- 15205994
OWN - NLM
STAT- MEDLINE
DCOM- 20040824
LR  - 20200209
IS  - 1434-5161 (Print)
IS  - 1434-5161 (Linking)
VI  - 49
IP  - 7
DP  - 2004
TI  - Unusual presentation of multiple endocrine neoplasia type 1 in a young woman with 
      a novel mutation of the MEN1 gene.
PG  - 380-386
LID - 10.1007/s10038-004-0163-2 [doi]
AB  - We report an unusual presentation of multiple endocrine neoplasia type 1 (MEN 1) 
      in a young woman who was subsequently proven to have a novel mutation of the MEN1 
      gene. The young patient, aged 25 years, was investigated for abdominal discomfort 
      and left upper abdominal pain. Her family history was unremarkable, except an 
      unknown disorder of her father causing early death. Abdominal ultrasonography 
      (USG) and computed tomography revealed a giant pancreatic tumor measuring 10 cm 
      in diameter. The diagnosis of a clinically nonfunctioning pancreatic 
      neuroendocrine tumor was established by clinical and other studies, including 
      USG-guided aspiration biopsy and octreotide scintigraphy, and the patient 
      underwent a distal pancreatectomy. Histology proved a well-differentiated 
      multinodular neuroendocrine tumor of the pancreas. During surgery, a subcutaneous 
      lipoma was also removed from the abdominal wall. Two years later, the patient 
      developed primary hyperparathyroidism, and two enlarged parathyroid glands were 
      surgically removed. Magnetic resonance imaging of the pituitary gland was normal. 
      Screening for MEN1 gene mutation by temperature gradient gel electrophoresis 
      revealed heterozygosities in exons 3, 8, and 9, while direct sequencing indicated 
      a novel germline mutation (C354X) resulting in a stop codon in exon 8 and 
      polymorphisms in exon 3 (R171Q) and exon 9 (D418D and L432L). Genetic screening 
      revealed no mutation in living family members. Our unusual case suggests that a 
      multinodular pancreatic neuroendocrine tumor in a young patient may justify 
      screening for MEN 1 syndrome, even in the absence of other endocrinopathy or 
      family history.
FAU - Balogh, Katalin
AU  - Balogh K
AD  - Second Department of Medicine, Faculty of Medicine, Semmelweis University, 
      Szentkiralyi str. 46, 1088, Budapest, Hungary.
FAU - Patocs, Attila
AU  - Patocs A
AD  - Second Department of Medicine, Faculty of Medicine, Semmelweis University, 
      Szentkiralyi str. 46, 1088, Budapest, Hungary.
FAU - Majnik, Judit
AU  - Majnik J
AD  - Second Department of Medicine, Faculty of Medicine, Semmelweis University, 
      Szentkiralyi str. 46, 1088, Budapest, Hungary.
FAU - Varga, Fatima
AU  - Varga F
AD  - First Department of Medicine, Faculty of Medicine, Semmelweis University, 
      Budapest, Hungary.
FAU - Illyes, Gyorgy
AU  - Illyes G
AD  - Second Department of Pathology, Faculty of Medicine, Semmelweis University, 
      Budapest, Hungary.
FAU - Hunyady, Laszlo
AU  - Hunyady L
AD  - Department of Physiology, Faculty of Medicine, Semmelweis University, Budapest, 
      Hungary.
FAU - Racz, Karoly
AU  - Racz K
AD  - Second Department of Medicine, Faculty of Medicine, Semmelweis University, 
      Szentkiralyi str. 46, 1088, Budapest, Hungary. racz@bel2.sote.hu.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20040616
PL  - England
TA  - J Hum Genet
JT  - Journal of human genetics
JID - 9808008
RN  - 0 (Codon)
RN  - 0 (Codon, Terminator)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Codon
MH  - Codon, Terminator
MH  - DNA Mutational Analysis
MH  - Exons
MH  - Family Health
MH  - Female
MH  - Germ-Line Mutation
MH  - Heterozygote
MH  - Humans
MH  - Hyperparathyroidism/complications/surgery
MH  - Lipoma/complications
MH  - Magnetic Resonance Imaging
MH  - Male
MH  - Models, Biological
MH  - Multiple Endocrine Neoplasia Type 1/*diagnosis/*genetics/surgery
MH  - *Mutation
MH  - Pancreas/pathology
MH  - Pancreatic Neoplasms/diagnosis/genetics/surgery
MH  - Polymorphism, Genetic
MH  - Proto-Oncogene Proteins/*genetics
MH  - Temperature
EDAT- 2004/06/19 05:00
MHDA- 2004/08/25 05:00
CRDT- 2004/06/19 05:00
PHST- 2004/03/08 00:00 [received]
PHST- 2004/04/20 00:00 [accepted]
PHST- 2004/06/19 05:00 [pubmed]
PHST- 2004/08/25 05:00 [medline]
PHST- 2004/06/19 05:00 [entrez]
AID - 10.1007/s10038-004-0163-2 [pii]
AID - 10.1007/s10038-004-0163-2 [doi]
PST - ppublish
SO  - J Hum Genet. 2004;49(7):380-386. doi: 10.1007/s10038-004-0163-2. Epub 2004 Jun 
      16.