Comparative validation of c-kit exon 11 mutation analysis on cytology samples and corresponding surgical resections of gastrointestinal stromal tumours

被引:3
|
作者
Pang, N. K. B. [1 ]
Chin, S. Y. [2 ]
Nga, M. E.
Chang, A. R.
Ismail, T. -M. [1 ]
Omar, S. -S. [1 ]
Charlton, A.
Salto-Tellez, M. [1 ,2 ]
机构
[1] Natl Univ Singapore, Dept Pathol, Diagnost Mol Oncol Ctr, Yong Loo Lin Sch Med,Natl Univ Hosp, Singapore 119074, Singapore
[2] Natl Univ Singapore, Oncol Res Inst, Singapore 119074, Singapore
关键词
c-kit exon 11 mutation; gastrointestinal stromal tumours; molecular diagnostic cytopathology; Diagnostic Molecular Oncology Centre; fine needle aspiration cytology; NEEDLE-ASPIRATION BIOPSY; LEIOMYOSARCOMAS; RESISTANCE; EXPRESSION; GENE;
D O I
10.1111/j.1365-2303.2008.00633.x
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
Objective: Studies have shown that c-kit mutation analysis of gastrointestinal stromal tumours (GISTs) obtained by endoscopic ultrasound-guided fine needle aspiration (EUS-FNA) can be routinely performed. We validated c-kit exon 11 mutational analysis on cell block material obtained from fine needle aspiration cytology (FNAC) for diagnostic purposes and compared it with the same analysis in formalin-fixed paraffin-embedded full sections of the corresponding resection specimens. Methods: c-kit mutation analysis was done on cell block material obtained from ten cases encountered in our department from 1999 to 2008 on which FNAC was attempted pre-operatively. The findings were compared with analysis on full paraffin section of the corresponding resected tumours in seven cases where patients opted for resection. c-kit exon 11 was examined via bidirectional nucleic acid sequencing. Results: Our results showed 100% concordance for the presence and type of exon 11 mutation in the resected and aspirated tumours in all seven cases. These mutations had diagnostic value when compared with other neoplasms that are part of the cytomorphological differential diagnosis, such as leiomyosarcoma or gastric adenocarcinomas. Conclusion: Molecular cytopathology is a powerful tool that can complement morphology and immunohistochemical assessment of cytological material in routine practice for the diagnosis and prognostication of GISTs. We briefly discuss the advantages and limitations of the fine needle method of obtaining tissue for the diagnosis and prognostication of GISTs, and its current therapeutic strategies.
引用
收藏
页码:297 / 303
页数:7
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