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Genetic aberrance of sporadic MEN 2A component tumours: analysis of RET

Authors
 NAM HOON CHO  ;  HYUN WOO LEE  ;  SHIN YOUNG LIM  ;  SUKI KANG  ;  WUNG YUN JUNG  ;  CHUNG SU PARK 
Citation
 PATHOLOGY, Vol.37(1) : 10-13, 2005 
Journal Title
PATHOLOGY
ISSN
 0031-3025 
Issue Date
2005
MeSH
Adrenal Gland Neoplasms/genetics ; Adrenal Gland Neoplasms/metabolism ; Adult ; Base Sequence ; Female ; Humans ; Immunohistochemistry ; Male ; Middle Aged ; Molecular Sequence Data ; Multiple Endocrine Neoplasia/genetics* ; Multiple Endocrine Neoplasia/metabolism ; Oncogene Proteins/genetics* ; Oncogene Proteins/metabolism ; Paraganglioma/genetics ; Paraganglioma/metabolism ; Parathyroid Neoplasms/genetics ; Parathyroid Neoplasms/metabolism ; Pheochromocytoma/genetics ; Pheochromocytoma/metabolism ; Point Mutation ; Polymerase Chain Reaction ; Proto-Oncogene Proteins c-ret ; Receptor Protein-Tyrosine Kinases/genetics* ; Receptor Protein-Tyrosine Kinases/metabolism ; Thyroid Neoplasms/genetics ; Thyroid Neoplasms/metabolism
Keywords
15875728
Abstract
AIM: The molecular pathogenesis of familial multiple endocrine neoplasia (MEN) type 2 (parathyroid adenoma with medullary thyroid carcinoma and adrenal pheochromocytoma) is associated with a germ-line mutation in the RET proto-oncogene. We undertook this study to clarify the relationship between the tumorigenesis of apparently sporadic MEN type 2 component endocrine tumours and RET mutations.
METHODS: Direct sequencing for RET exon 10, 11, 12, 13, 14, 15 and 16 and immunohistochemistry for RET monoclonal antibody were performed on the archival tissues of 84 cases of sporadic endocrine tumours, including 22 medullary thyroid carcinomas (MTCs), 35 adrenal pheochromocytomas (APCs), 18 paragangliomas (PGs), and nine parathyroid adenomas (PTAs).
RESULTS: PCR-based direct sequencing revealed somatic point missense mutation within 22.7% of exon 13 of the RET proto-oncogene (four cases of E768D, one case of S7781) in MTCs. No RET genotype and morphological association was observed in MTCs or APCs. APCs revealed significantly lower levels of immunoexpression of RET, even versus PGs.
CONCLUSIONS: The genetic mutation in RET is relatively low in incidence, and likely to play an insignificant role in the molecular pathogenesis of sporadic MTC. The molecular bases of PG and APC seem to be different despite their embryological and histological similarities.
Full Text
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=01268031-200537010-00002&LSLINK=80&D=ovft
DOI
OAK-2005-02473
Appears in Collections:
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Kang, Suki(강숙희) ORCID logo https://orcid.org/0000-0002-9957-3479
Park, Cheong Soo(박정수)
Chung, Woong Youn(정웅윤)
Cho, Nam Hoon(조남훈) ORCID logo https://orcid.org/0000-0002-0045-6441
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/147323
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