PMID- 11756777
OWN - NLM
STAT- MEDLINE
DCOM- 20020117
LR  - 20190822
IS  - 0147-5185 (Print)
IS  - 0147-5185 (Linking)
VI  - 26
IP  - 1
DP  - 2002 Jan
TI  - Familial adenomatous polyposis associated with multiple endocrine neoplasia type 
      1-related tumors and thyroid carcinoma: a case report with clinicopathologic and 
      molecular analyses.
PG  - 103-10
AB  - We describe a sporadic case with familial adenomatous polyposis, multiple 
      endocrine neoplasia type 1 (MEN1)-related tumors (an endocrine cell tumor of the 
      pancreas and bilateral parathyroid tumors), and a papillary thyroid carcinoma. To 
      clarify how mutations of the adenomatous polyposis coli ( APC ) gene and the MEN1 
      gene, responsible for familial adenomatous polyposis and MEN1, respectively, 
      might have contributed to tumorigenesis in this case, we studied germline 
      mutations in both genes and loss of heterozygosity at their genetic loci in 
      multiple lesions. In addition, we performed immunohistochemistry for 
      beta-catenin, associated with the function of the APC gene. A germline mutation 
      was found in the APC gene but not in the MEN1 gene. Normal allelic loss at the 
      APC gene locus was observed in bilateral parathyroid tumors. Immunohistochemical 
      staining of beta-catenin demonstrated accumulation in the cytoplasm in addition 
      to membrane staining in all analyzed tumors and a strong nuclear reaction in the 
      endocrine cell tumor of the pancreas. The presence of normal allelic deletions of 
      the APC gene in bilateral parathyroid tumors and nuclear staining of beta-catenin 
      in the pancreatic tumor in addition to the germline mutations suggests that 
      functional loss of the APC gene played an important role not only in familial 
      adenomatous polyposis but also in the MEN1-related tumors in this case.
FAU - Sakai, Yuzo
AU  - Sakai Y
AD  - Department of Medicine, Cancer Institute Hospital, Tokyo, Japan. 
      sakaiy-ind@umin.ac.jp
FAU - Koizumi, Koich
AU  - Koizumi K
FAU - Sugitani, Iwao
AU  - Sugitani I
FAU - Nakagawa, Ken
AU  - Nakagawa K
FAU - Arai, Masami
AU  - Arai M
FAU - Utsunomiya, Joji
AU  - Utsunomiya J
FAU - Muto, Tetsuichiro
AU  - Muto T
FAU - Fujita, Rikiya
AU  - Fujita R
FAU - Kato, Yo
AU  - Kato Y
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Surg Pathol
JT  - The American journal of surgical pathology
JID - 7707904
RN  - 0 (Adenomatous Polyposis Coli Protein)
RN  - 0 (MEN1 protein, human)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
CIN - Am J Surg Pathol. 2003 Mar;27(3):412-3. PMID: 12604901
CIN - Am J Surg Pathol. 2003 Aug;27(8):1176-7. PMID: 12883254
MH  - Adenomatous Polyposis Coli/*etiology/genetics/pathology
MH  - Adenomatous Polyposis Coli Protein/genetics
MH  - Adult
MH  - Carcinoma, Papillary/*complications/genetics/pathology/surgery
MH  - Female
MH  - Genes, ras
MH  - Germ-Line Mutation
MH  - Humans
MH  - Loss of Heterozygosity
MH  - Multiple Endocrine Neoplasia Type 1/*etiology/genetics/pathology
MH  - Neoplasm Proteins/genetics
MH  - Pancreatic Neoplasms/*etiology/genetics/pathology
MH  - Parathyroid Neoplasms/*etiology/genetics/pathology
MH  - *Proto-Oncogene Proteins
MH  - Thyroid Neoplasms/*complications/genetics/pathology/surgery
EDAT- 2002/01/05 10:00
MHDA- 2002/01/18 10:01
CRDT- 2002/01/05 10:00
PHST- 2002/01/05 10:00 [pubmed]
PHST- 2002/01/18 10:01 [medline]
PHST- 2002/01/05 10:00 [entrez]
AID - 10.1097/00000478-200201000-00014 [doi]
PST - ppublish
SO  - Am J Surg Pathol. 2002 Jan;26(1):103-10. doi: 10.1097/00000478-200201000-00014.