PMID- 22549346
OWN - NLM
STAT- MEDLINE
DCOM- 20121231
LR  - 20120522
IS  - 1439-3646 (Electronic)
IS  - 0947-7349 (Linking)
VI  - 120
IP  - 5
DP  - 2012 May
TI  - Novel association of thymic carcinoid with a germline mutation in a kindred with 
      multiple endocrine neoplasia 1 (MEN1).
PG  - 257-60
LID - 10.1055/s-0032-1309012 [doi]
AB  - Multiple endocrine neoplasia 1 (MEN1) is an autosomal dominant syndrome 
      characterized by a triad of endocrine (parathyroid, enteropancreatic and 
      pituitary) tumors. Familial MEN1 is defined by one first-degree relative having 
      at least one of these 3 main tumors, and is associated with germline mutations in 
      the MEN1 gene on 11q13 in a large proportion of cases. MEN1 patients may also 
      develop non-endocrine tumors, notably thymic carcinoid. These are rare tumors 
      found predominantly in men, and are a major cause of death in MEN1 due to their 
      insidious nature, lack of effective treatment and unpredictable recurrence. 
      Prophylactic thymectomy has been advocated for prevention but continued 
      surveillance for recurrence is necessary. Although genotype-phenotype correlation 
      in MEN1-related thymic carcinoid is inconsistent, there is a high prevalence of 
      truncating mutations in this condition. We describe a father and son with MEN1, 
      associated with thymic carcinoid (father) and the truncating mutation R29X (son), 
      which was not previously reported in MEN1-related thymic carcinoid, and review 
      the literature about thymic carcinoids in MEN1. Our cases illustrate the 
      importance of a high index of suspicion for early diagnosis and lifelong 
      surveillance in MEN1, and the utility of genetic analysis in defining 
      surveillance for MEN1-related thymic carcinoid.
CI  - (c) J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart . New York.
FAU - Khoo, J
AU  - Khoo J
AD  - Department of Endocrinology, Changi General Hospital, 2 Sime Street 3, Singapore. 
      joan_khoo@cgh.com.sg
FAU - Bee, Y M
AU  - Bee YM
FAU - Giraud, S
AU  - Giraud S
FAU - Chen, R Y J
AU  - Chen RY
FAU - Rajasoorya, C
AU  - Rajasoorya C
FAU - Teh, B-T
AU  - Teh BT
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20120427
PL  - Germany
TA  - Exp Clin Endocrinol Diabetes
JT  - Experimental and clinical endocrinology & diabetes : official journal, German 
      Society of Endocrinology [and] German Diabetes Association
JID - 9505926
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adult
MH  - Base Sequence
MH  - DNA/chemistry/genetics
MH  - Female
MH  - *Germ-Line Mutation
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Multiple Endocrine Neoplasia Type 1/*genetics/pathology
MH  - Pedigree
MH  - Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Thymus Neoplasms/*genetics/pathology
EDAT- 2012/05/03 06:00
MHDA- 2013/01/01 06:00
CRDT- 2012/05/03 06:00
PHST- 2012/05/03 06:00 [entrez]
PHST- 2012/05/03 06:00 [pubmed]
PHST- 2013/01/01 06:00 [medline]
AID - 10.1055/s-0032-1309012 [doi]
PST - ppublish
SO  - Exp Clin Endocrinol Diabetes. 2012 May;120(5):257-60. doi: 
      10.1055/s-0032-1309012. Epub 2012 Apr 27.