Genetic mutation analysis of the malignant transformation of sinonasal inverted papilloma by targeted amplicon sequencing

• Published in: International journal of clinical oncology Vol. 23; no. 5; pp. 835 - 843
• Main Authors: Yasukawa, Shinichiro, Kano, Satoshi, Hatakeyama, Hiromitsu, Nakamaru, Yuji, Takagi, Dai, Mizumachi, Takatsugu, Suzuki, Masanobu, Suzuki, Takayoshi, Nakazono, Akira, Tanaka, Shinya, Nishihara, Hiroshi, Homma, Akihiro
• Format: Journal Article
• Language: English
• Published: Tokyo Springer Japan 01.10.2018; Springer Nature B.V
• Subjects: Adult; Aged; Biomarkers, Tumor - genetics; Cancer Research; Carcinoma, Squamous Cell - genetics; Carcinoma, Squamous Cell - pathology; Cell Transformation, Neoplastic - pathology; DNA Mutational Analysis; Dysplasia; Female; Genetic analysis; Genetic diversity; Genetic transformation; Humans; Male; Medicine; Medicine & Public Health; Middle Aged; Mutation; Mutation rates; Nose Neoplasms - genetics; Nose Neoplasms - pathology; Oncology; Original Article; p53 Protein; Papilloma; Papilloma, Inverted - genetics; Papilloma, Inverted - pathology; Paranasal Sinus Neoplasms - genetics; Paranasal Sinus Neoplasms - pathology; Prognosis; Squamous cell carcinoma; Surgical Oncology; Tumors; Inverted papilloma; Squamous cell carcinoma; NGS; Malignant transformation; Targeted amplicon sequence
• ISSN: 1341-9625; 1437-7772
• DOI: 10.1007/s10147-018-1296-1

Background The mechanism underlying the malignant transformation of inverted papilloma (IP) has not yet been elucidated. Methods To clarify the genes responsible for the malignant transformation, we analyzed 10 cases of IP, 8 of IP with dysplasia, and 11 of squamous cell carcinoma (SCC) by targeted amplicon sequencing. Results The number of mutant genes increased in the order of IP < dysplasia < SCC. Significant differences were observed in the mutation rates of three genes ( KRAS, APC and STK11 ) in particular. TP53 was altered frequently in each group and might be involved in malignant transformation based on to the site of the mutation. A comparison of the genetic variants by region of IP tissue among patients with IP alone, and those with dysplasia or SCC revealed significant differences in the mutation rate of the KRAS gene. Conclusion Identification of genetic mutations in KRAS is effective for predicting the malignant transformation of IP.