PMID- 17299066
OWN - NLM
STAT- MEDLINE
DCOM- 20070606
LR  - 20150813
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 92
IP  - 5
DP  - 2007 May
TI  - The parathyroid/pituitary variant of multiple endocrine neoplasia type 1 usually 
      has causes other than p27Kip1 mutations.
PG  - 1948-51
AB  - CONTEXT: One variant of multiple endocrine neoplasia type 1 (MEN1) is defined by 
      sporadic tumors of both the parathyroids and pituitary. The prevalence of 
      identified MEN1 mutations in this variant is lower than in familial MEN1 (7% vs. 
      90%), suggesting different causes. Recently, one case of this variant had a 
      germline mutation of p27(Kip1)/CDKN1B. OBJECTIVE: The objective was to test p27 
      in germline DNA from cases with tumors of both the parathyroids and pituitary. 
      DESIGN: Medical record review and sequence analysis in DNA were performed. 
      SETTING: This study involved an inpatient and outpatient referral program for 
      cases of endocrine tumors. PATIENTS: Sixteen index cases had sporadic tumors of 
      two organs, both the parathyroids and the pituitary. There were 18 additional 
      index cases with related features of familial tumors. Five subjects were normal 
      controls. No case had an identified MEN1 mutation. INTERVENTIONS: Clinical status 
      of endocrine tumors was tabulated. Sequencing of germline DNA from index cases 
      and control cases for the p27 gene was performed by PCR. MAIN OUTCOME MEASURES: 
      Endocrine tumor types and their expressions were measured, as were sequence 
      changes in the p27 gene. RESULTS: Tumor features were documented in index cases 
      and families. One p27 germline single nucleotide change was identified. This 
      predicted a silent substitution of Thr142Thr. Furthermore, there was a normal 
      prevalence of heterozygosity for a common p27 polymorphism, making a large p27 
      deletion unlikely in all or most of these cases. CONCLUSIONS: The MEN1 variant 
      with sporadic parathyroid tumors, sporadic pituitary tumor, and no identified 
      MEN1 mutation is usually not caused by p27 germline mutations. It is usually 
      caused by as yet unknown process(es).
FAU - Ozawa, Atsushi
AU  - Ozawa A
AD  - National Institute of Diabetes and Digestive and Kidney Diseases, National 
      Institutes of Health, Bethesda, MD 20892-1802, USA. ozawaa@niddk.nih.gov
FAU - Agarwal, Sunita K
AU  - Agarwal SK
FAU - Mateo, Carmen M
AU  - Mateo CM
FAU - Burns, A Lee
AU  - Burns AL
FAU - Rice, Terri S
AU  - Rice TS
FAU - Kennedy, Patricia A
AU  - Kennedy PA
FAU - Quigley, Caitlin M
AU  - Quigley CM
FAU - Simonds, William F
AU  - Simonds WF
FAU - Weinstein, Lee S
AU  - Weinstein LS
FAU - Chandrasekharappa, Settara C
AU  - Chandrasekharappa SC
FAU - Collins, Francis S
AU  - Collins FS
FAU - Spiegel, Allen M
AU  - Spiegel AM
FAU - Marx, Stephen J
AU  - Marx SJ
LA  - eng
GR  - Intramural NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Intramural
DEP - 20070213
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (DNA, Neoplasm)
RN  - 0 (Hormones)
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
SB  - IM
MH  - Adult
MH  - Cyclin-Dependent Kinase Inhibitor p27/*genetics
MH  - DNA, Neoplasm/genetics
MH  - Female
MH  - Gene Frequency
MH  - Germ-Line Mutation/genetics
MH  - Hormones/metabolism
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics
MH  - Parathyroid Neoplasms/*genetics/pathology
MH  - Pituitary Neoplasms/*genetics/pathology
MH  - Polymorphism, Genetic/genetics
EDAT- 2007/02/15 09:00
MHDA- 2007/06/07 09:00
CRDT- 2007/02/15 09:00
PHST- 2007/02/15 09:00 [pubmed]
PHST- 2007/06/07 09:00 [medline]
PHST- 2007/02/15 09:00 [entrez]
AID - jc.2006-2563 [pii]
AID - 10.1210/jc.2006-2563 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2007 May;92(5):1948-51. doi: 10.1210/jc.2006-2563. Epub 
      2007 Feb 13.