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Pathological characteristics of gastrointestinal stromal tumours with PDGFRA mutations

Authors
 JI EUN KWON  ;  HYUN JU KANG  ;  SE HOON KIM  ;  YONG CHAN LEE  ;  WOO JIN HYUNG  ;  SUNG HOON NOH  ;  NAM KYU KIM  ;  HOGUEN KIM 
Citation
 PATHOLOGY, Vol.41(6) : 544-554, 2009 
Journal Title
 PATHOLOGY 
ISSN
 0031-3025 
Issue Date
2009
MeSH
Algorithms ; Cell Count ; DNA, Neoplasm/analysis ; Female ; Gastrointestinal Stromal Tumors/genetics* ; Gastrointestinal Stromal Tumors/mortality ; Gastrointestinal Stromal Tumors/pathology* ; Humans ; Immunoenzyme Techniques ; Male ; Middle Aged ; Mitosis ; Mutation* ; Neoplasm Recurrence, Local ; Polymorphism, Single-Stranded Conformational ; Proto-Oncogene Proteins c-kit/genetics* ; Receptor, Platelet-Derived Growth Factor alpha/genetics* ; Republic of Korea/epidemiology ; Survival Rate ; Tissue Array Analysis
Keywords
Gastrointestinal stromal tumour ; PDGFRA mutation ; mixed type ; epithelioid type
Abstract
AIMS: The aim of this study was to identify the characteristics of PDGFRA-mutated gastrointestinal stromal tumours (GISTs) in comparison with KIT-mutated GISTs. METHODS: A total of 151 GISTs were examined for KIT and PDGFRA mutations, and clinical and histopathological parameters were evaluated and analysed statistically according to mutation status. RESULTS: KIT and PDGFRA mutations were detected in 123 (81.5%) and 15 cases (9.9%), respectively. Clinically, all PDGFRA-mutated GISTs were located in the stomach with no recurrences and tumour-related deaths were noted. Pathological parameters associated with PDGFRA mutations were epithelioid and mixed type, low to moderate cellularity, moderate to severe intratumoural lymphocytic infiltration, prominent myxoid change, frequent rhabdoid cells and multinucleated giant cells, increased cellular pleomorphism, low mitotic count, and lower risk assessment (p < 0.05). Compared with KIT-mutated GISTs, PDGFRA-mutated GISTs had unique histopathological patterns, intermingling of spindle and epithelioid cells, and/or a jigsaw puzzle-like arrangement of epithelioid cells. CONCLUSIONS: PDGFRA-mutated GISTs have distinctive histological patterns that are differentiated from KIT-mutated GISTs. The algorithmic approach by a combination of several distinguishing histological and immunohistochemical features between KIT- and PDGFRA-mutated GISTs might be helpful in predicting the mutated gene of each GIST on pathological examination.
Full Text
http://ovidsp.ovid.com/ovidweb.cgi?T=JS&CSC=Y&NEWS=N&PAGE=fulltext&AN=01268031-200941060-00006&LSLINK=80&D=ovft
DOI
10.1080/00313020903071421
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 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
2. College of Dentistry (치과대학) > Dept. of Oral Biology (구강생물학교실) > 1. Journal Papers
Yonsei Authors
Kang, Hyun Ju(강현주)
Kwon, Ji Eun(권지은)
Kim, Nam Kyu(김남규) ORCID logo https://orcid.org/0000-0003-0639-5632
Kim, Se Hoon(김세훈) ORCID logo https://orcid.org/0000-0001-7516-7372
Kim, Hogeun(김호근)
Noh, Sung Hoon(노성훈) ORCID logo https://orcid.org/0000-0003-4386-6886
Lee, Yong Chan(이용찬) ORCID logo https://orcid.org/0000-0001-8800-6906
Hyung, Woo Jin(형우진) ORCID logo https://orcid.org/0000-0002-8593-9214
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/104581
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