PMID- 24218143
OWN - NLM
STAT- MEDLINE
DCOM- 20150207
LR  - 20211021
IS  - 1573-7292 (Electronic)
IS  - 1389-9600 (Linking)
VI  - 13
IP  - 2
DP  - 2014 Jun
TI  - Ectopic Cushing syndrome associated with thymic carcinoid tumor as the first 
      presentation of MEN1 syndrome-report of a family with MEN1 gene mutation.
PG  - 267-72
LID - 10.1007/s10689-013-9692-1 [doi]
AB  - Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant syndrome. 
      Although thymic carcinoid tumor is recognized as a part of MEN1 syndrome but 
      functioning thymic carcinoid tumor as the first presentation of the MEN1 seems to 
      be very rare. In this report, we present a 29-year-old male who developed ectopic 
      Cushing syndrome secondary to thymic carcinoid tumor and was diagnosed as MEN1 
      syndrome 2 years later. Further evaluation revealed the presence of carcinoid 
      tumor and other MEN 1 manifestations in several other member of family. Genetic 
      evaluation showed presence of a previously reported mutation in exon 10(R527X) of 
      MEN1 gene in these patients. This presentation showed that thymic neuroendocrine 
      tumor could be the first manifestation of the MEN1 syndrome and it might be 
      diagnosed as a dominant manifestation of this syndrome in a family. We suggest 
      biochemical or genetic screening for MEN-1 syndrome for patients with thymic 
      carcinoid.
FAU - Hasani-Ranjbar, Shirin
AU  - Hasani-Ranjbar S
AD  - Obesity and Eating Habits Research Center, Endocrinology and Metabolism Cellular 
      and Molecular Science Institute, Endocrinology and Metabolism Research Institute, 
      Tehran University of Medical Sciences, Tehran, Iran.
FAU - Rahmanian, Masoud
AU  - Rahmanian M
FAU - Ebrahim-Habibi, Azadeh
AU  - Ebrahim-Habibi A
FAU - Soltani, Akbar
AU  - Soltani A
FAU - Soltanzade, Akbar
AU  - Soltanzade A
FAU - Mahrampour, Elnaz
AU  - Mahrampour E
FAU - Amoli, Mahsa M
AU  - Amoli MM
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Netherlands
TA  - Fam Cancer
JT  - Familial cancer
JID - 100898211
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - ACTH Syndrome, Ectopic/*etiology
MH  - Adenoma/*diagnosis
MH  - Adolescent
MH  - Adult
MH  - Carcinoid Tumor/*genetics/*metabolism/secondary
MH  - Cushing Syndrome/*etiology
MH  - Female
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/diagnosis/*genetics
MH  - Mutation
MH  - Neoplasm Recurrence, Local/*diagnosis
MH  - Pedigree
MH  - Pituitary Neoplasms/*diagnosis
MH  - Proto-Oncogene Proteins/*genetics
MH  - Thymus Neoplasms/*genetics/*metabolism/pathology
EDAT- 2013/11/13 06:00
MHDA- 2015/02/11 06:00
CRDT- 2013/11/13 06:00
PHST- 2013/11/13 06:00 [entrez]
PHST- 2013/11/13 06:00 [pubmed]
PHST- 2015/02/11 06:00 [medline]
AID - 10.1007/s10689-013-9692-1 [doi]
PST - ppublish
SO  - Fam Cancer. 2014 Jun;13(2):267-72. doi: 10.1007/s10689-013-9692-1.