PMID- 19564705
OWN - NLM
STAT- MEDLINE
DCOM- 20100118
LR  - 20190907
IS  - 1348-4540 (Electronic)
IS  - 0918-8959 (Linking)
VI  - 56
IP  - 7
DP  - 2009
TI  - Unusual clinical and pathological presentation of a neuroendocrine tumor in a 
      patient with multiple endocrine neoplasia type 1.
PG  - 887-95
AB  - Neuroendocrine tumors develop in various organs in patients with multiple 
      endocrine neoplasia type 1 (MEN1). Among those, tumors developed in upper 
      gastrointestinal tract, thymus and bronchus have historically been called 
      "carcinoid tumor". Occurrence of "carcinoid tumor" in other region is very rare 
      and molecular pathogenesis of such tumors is unknown. We have experienced a 
      patient with MEN1 who have developed an "ectopic" retroperitoneal neuroendocrine 
      tumor. Genetic analysis of the MEN1 gene in tumor cells revealed a somatic 
      mutation in exon 9 as well as a germline mutation in exon 10. Allele-specific 
      amplification followed by sequence analysis revealed these two mutations exist on 
      the different allele, indicating both alleles are functionally inactivated. 
      Immunohistochemical staining with an anti-menin antibody revealed that wild-type 
      menin is not expressed in tumor cells. Expression of p27(Kip1) protein is not 
      observed in tumor cells, either. These results confirmed the inactivation of the 
      MEN1 gene as a genetic cause of an ectopically developed neuroendocrine tumor in 
      a patient with MEN1.
FAU - Sakurai, Akihiro
AU  - Sakurai A
AD  - Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, 
      Japan. aksakura@shinshu-u.ac.jp
FAU - Murakami, Akiko
AU  - Murakami A
FAU - Sano, Kenji
AU  - Sano K
FAU - Uchino, Shinya
AU  - Uchino S
FAU - Fukushima, Yoshimitsu
AU  - Fukushima Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20090630
PL  - Japan
TA  - Endocr J
JT  - Endocrine journal
JID - 9313485
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 147604-94-2 (Cyclin-Dependent Kinase Inhibitor p27)
SB  - IM
MH  - Carcinoid Tumor/*pathology
MH  - Cyclin-Dependent Kinase Inhibitor p27/genetics
MH  - Female
MH  - Germ-Line Mutation
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Middle Aged
MH  - Multiple Endocrine Neoplasia Type 1/genetics/*pathology
MH  - Neuroendocrine Tumors/genetics/*pathology
MH  - Proto-Oncogene Proteins/genetics
MH  - Retroperitoneal Neoplasms/pathology
EDAT- 2009/07/01 09:00
MHDA- 2010/01/19 06:00
CRDT- 2009/07/01 09:00
PHST- 2009/07/01 09:00 [entrez]
PHST- 2009/07/01 09:00 [pubmed]
PHST- 2010/01/19 06:00 [medline]
AID - JST.JSTAGE/endocrj/K09E-126 [pii]
AID - 10.1507/endocrj.k09e-126 [doi]
PST - ppublish
SO  - Endocr J. 2009;56(7):887-95. doi: 10.1507/endocrj.k09e-126. Epub 2009 Jun 30.