Premium
Reappraisal of KIT mutation in adenoid cystic carcinomas of the salivary gland
Author(s) -
Sung JiYoun,
Ahn Hee Kyung,
Kwon JiEun,
Jeong HanSin,
Baek ChungHwan,
Son YoungIk,
Ahn Yong Chan,
Park Keunchil,
Ahn MyungJu,
Ko YoungHyeh
Publication year - 2012
Publication title -
journal of oral pathology and medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.887
H-Index - 83
eISSN - 1600-0714
pISSN - 0904-2512
DOI - 10.1111/j.1600-0714.2011.01105.x
Subject(s) - adenoid cystic carcinoma , exon , mutation , immunohistochemistry , primer (cosmetics) , biology , gene , cancer research , polymerase chain reaction , gene mutation , microbiology and biotechnology , pathology , salivary gland , adenoid , carcinoma , medicine , genetics , chemistry , organic chemistry
J Oral Pathol Med (2012) 41 : 415–423 Background: While overexpression of KIT protein has been well documented in adenoid cystic carcinomas (ACCs), mutation of KIT gene has been a controversial issue. We wanted to evaluate clinical value of the KIT mutation and protein expression in ACC. Methods: We analyzed 33 cases of ACC. Gene mutations in KIT exons 9, 11, 13, and 17 were analyzed using paraffin‐embedded tissue, and two different sets of primers with direct sequencing after polymerase chain reaction (PCR) for exon 9, 11, 13, and 17, and cloning of PCR products for exon 11. KIT protein expression was assessed by immunohistochemistry. The correlation between clinicopathological findings and these biomarkers was analyzed. Results: No KIT mutation was observed in all of the 33 cases. With one primer set, KIT mutation was found in nine of 33 cases (27.3%). However, these mutations were not reproducible in the experiment using another primer set. KIT protein overexpression was detected in 22 of 33 patients (66.7%). KIT protein expression was not statistically correlated with either clinicopathological factors or survival. Patients with metastasis showed a tendency of longer progression‐free survival ( P = 0.052) and overall survival ( P = 0.080) when the tumor overexpressed KIT protein. Conclusion: This study supports that mutational study using paraffin‐embedded tissue should be interpreted with great caution. KIT gene mutation is very rare in ACC, and gene mutation is not the cause of protein overexpression. KIT protein expression may have a potential value for better prognostic factor in patients with metastasis.