Molecular genetic studies on EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 in primary pulmonary adenoid cystic carcino
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Open Access
Molecular genetic studies on EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 in primary pulmonary adenoid cystic carcinoma Zhen Huo1, Huanwen Wu1, Shanqing Li2 and Zhiyong Liang1*
Abstract Background: Pulmonary adenoid cystic carcinoma (PACC) is an uncommon neoplasm of the lung but represents the predominant type of salivary gland-type lung carcinoma. Only a few studies have focused on the genetic events associated with PACC. The aim of this study was to characterize the genetic events associated with PACC. Findings: We reviewed 24 cases of primary PACC between 2000 and 2014, including 21 cases reported in our previous study and three new cases added in 2014. Mutation profiling of the EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 genes was performed using next-generation sequencing, Sanger sequencing, and quantitative polymerase chain reaction in 9 successfully amplified cases. The 24 cases of PACC included 7 men and 17 women, aged 24–74 years (mean, 50.8 years). All the cases were located in the trachea or bronchus. No mutations were detected in any of the seven genes in the nine cases that qualified for mutation analysis, and the results using different methods were consistent. Conclusions: The data presented in this work suggest that EGFR, KRAS, BRAF, ALK, PIK3CA, PDGFRA, and DDR2 may not be driver genes in primary pulmonary adenoid cystic carcinoma.
Findings Introduction
Primary pulmonary adenoid cystic carcinoma (PACC) is a rare neoplasm. It is presumed to originate from the minor salivary glands lining the tracheobronchial tree and is one of the main types of salivary gland-type carcinoma of the lung [1]. Although many molecular genetic studies have implicated certain genetic mutations in non-small cell lung cancer (NSCLC), including mutations in the EGFR, PIK3CA, BRAF, KRAS, and ALK genes [2, 3], only a few studies have focused on the genetic events associated with salivary gland-type lung carcinomas. With the exception of the recent discovery of translocations and fusion oncogenes in salivary gland tumours, a few studies have reported that genetic alterations in genes such as EGFR, KIT, BRAF, CCND1, HRAS, KRAS, NRAS, PIK3CA, and PDGFRA occur in * Correspondence: [email protected] 1 Department of Pathology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, No. 1 Shuaifuyuan, Wangfujing Street, Dongcheng District, Beijing 100730, China Full list of author information is available at the end of the article
malignant salivary gland tumours at a lower frequency [4–16]. Gene alterations in KIT, EGFR, BRAF, HRAS, KRAS, NRAS, PIK3CA, PDGFRA, and PTEN have been reported in adenoid cystic carcinoma (ACC) [4, 5, 7–16], but the results are inconsistent among different studies [10, 12, 17]. The genetic studies of PACC are scarce, and no genetic alterations, such as in EGFR and KIT, have been detected in these studies [18, 19]. In the current study, we reviewed a retrospective series of 24 patients with primary PACC and eva
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