PMID- 16594911
OWN - NLM
STAT- MEDLINE
DCOM- 20060427
LR  - 20220408
IS  - 0954-6820 (Print)
IS  - 0954-6820 (Linking)
VI  - 259
IP  - 4
DP  - 2006 Apr
TI  - Thymic carcinoid in multiple endocrine neoplasia 1: genotype-phenotype 
      correlation and prevention.
PG  - 428-32
AB  - Thymic carcinoid is a rare multiple endocrine neoplasia type 1 (MEN1)-associated 
      tumour that is a major cause of death in MEN1 patients. Here, we describe a 
      previously unreported MEN1 family in which two siblings presented with malignant 
      thymic carcinoids. All six siblings share a novel nonsense mutation Q395X on exon 
      8 of the MEN1 gene. The index patient developed a thymic carcinoid despite an 
      earlier prophylactic transcervical thymectomy, and one other sibling had an 
      incidental malignant thymic carcinoid discovered following prophylactic 
      thymectomy, both cases demonstrating the weakness and strength of this surgical 
      approach. We then review the spectrum of germline MEN1 mutations associated with 
      thymic carcinoids to evaluate the possibility of a genotype-phenotype 
      correlation. In the 22 separate MEN1 families with thymic carcinoids, all but two 
      (91%) have mutations coding for a truncated protein. There is clearly a high 
      prevalence of truncating mutations in MEN1-related thymic carcinoids although 
      when compared with the prevalence of truncating mutations in all reported MEN1 
      mutations, it is not statistically significant (P = 0.39). Further studies are 
      warranted to evaluate pathways of tumorigenesis of thymic carcinoids with regard 
      to loss of function of menin.
FAU - Lim, L C
AU  - Lim LC
AD  - Department of Medicine, Alexandra Hospital, Singapore.
FAU - Tan, M H
AU  - Tan MH
FAU - Eng, C
AU  - Eng C
FAU - Teh, B T
AU  - Teh BT
FAU - Rajasoorya, R C
AU  - Rajasoorya RC
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - J Intern Med
JT  - Journal of internal medicine
JID - 8904841
RN  - 0 (Codon, Nonsense)
SB  - IM
MH  - Adult
MH  - Carcinoid Tumor/*genetics/pathology
MH  - China/ethnology
MH  - Codon, Nonsense
MH  - Female
MH  - Gene Frequency
MH  - Genotype
MH  - Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology
MH  - Neoplasm Recurrence, Local/*genetics/pathology
MH  - Pedigree
MH  - Phenotype
MH  - Thymectomy
MH  - Thymus Neoplasms/*genetics/pathology/prevention & control
MH  - Treatment Failure
MH  - United States
EDAT- 2006/04/06 09:00
MHDA- 2006/04/28 09:00
CRDT- 2006/04/06 09:00
PHST- 2006/04/06 09:00 [pubmed]
PHST- 2006/04/28 09:00 [medline]
PHST- 2006/04/06 09:00 [entrez]
AID - JIM1619 [pii]
AID - 10.1111/j.1365-2796.2006.01619.x [doi]
PST - ppublish
SO  - J Intern Med. 2006 Apr;259(4):428-32. doi: 10.1111/j.1365-2796.2006.01619.x.