PMID- 15034196
OWN - NLM
STAT- MEDLINE
DCOM- 20041102
LR  - 20181113
IS  - 1355-008X (Print)
IS  - 1355-008X (Linking)
VI  - 23
IP  - 1
DP  - 2004 Feb
TI  - Clinical and genetic features of patients with multiple endocrine tumors who have 
      neither family history nor MEN1 germline mutations.
PG  - 45-9
AB  - Multiple endocrine neoplasia type 1 (MEN1) is an hereditary tumor syndrome that 
      involves specific endocrine organs such as parathyroids, anterior pituitary 
      gland, and endocrine pancreas. The responsible gene for this syndrome, MEN1, has 
      been isolated and that enabled genetic diagnosis for patients with endocrine 
      tumors and early detection of asymptomatic gene carriers in affected families. 
      Nevertheless, there are a considerable number of patients with MEN1 who have 
      neither family history nor germline MEN1 mutations. In this article, clinical 
      features of such patients are described. Among 53 MEN1 patients we have seen 
      during the last 20 yr, five patients who did not have either MEN1 germline 
      mutation or family history were categorized as MEN1 phenocopy. During the same 
      period, we have also experienced three patients who had primary 
      hyperparathyroidism and adrenocortical tumor but had no apparent family history 
      of endocrine tumors. These patients were considered as MEN1 phenocopy variants 
      and included in the study. The mean age of MEN1 phenocopy patients (including 
      variants) at diagnosis was 48 yr, which was not significantly different from that 
      of probands of familial MEN1 (46 yr) who carry heterozygous MEN1 gene mutations. 
      In the majority of MEN1 phenocopy patients, primary hyperparathyroidism was due 
      to a single parathyroid adenoma. In contrast to a previous report, we found that 
      MEN1 phenocopy patients are not necessarily older than probands of familial MEN1. 
      Phenotypic expression of such patients is variable, thus differentiation of 
      familial MEN1 and MEN1 phenocopy cannot be made based on age and clinical 
      phenotype alone.
FAU - Sakurai, Akihiro
AU  - Sakurai A
AD  - Department of Aging Medicine and Geriatrics, Shinshu University Graduate School 
      of Medicine, Asahi, Matsumoto, Japan. sakurai@sch.md.shinshu-u.ac.jp
FAU - Katai, Miyuki
AU  - Katai M
FAU - Yumita, Wataru
AU  - Yumita W
FAU - Minemura, Kesami
AU  - Minemura K
FAU - Hashizume, Kiyoshi
AU  - Hashizume K
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Endocrine
JT  - Endocrine
JID - 9434444
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adrenal Gland Neoplasms/blood/genetics/pathology
MH  - Adult
MH  - Aged
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Hyperparathyroidism/blood/genetics/pathology
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/blood/*genetics/*pathology
MH  - Pituitary Neoplasms/blood/genetics/pathology
MH  - Proto-Oncogene Proteins/genetics
EDAT- 2004/03/23 05:00
MHDA- 2004/11/04 09:00
CRDT- 2004/03/23 05:00
PHST- 2003/09/10 00:00 [received]
PHST- 2004/01/05 00:00 [revised]
PHST- 2004/01/23 00:00 [accepted]
PHST- 2004/03/23 05:00 [pubmed]
PHST- 2004/11/04 09:00 [medline]
PHST- 2004/03/23 05:00 [entrez]
AID - ENDO:23:1:45 [pii]
AID - 10.1385/ENDO:23:1:45 [doi]
PST - ppublish
SO  - Endocrine. 2004 Feb;23(1):45-9. doi: 10.1385/ENDO:23:1:45.