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サカモト ユウマ
Yuma Sakamoto
坂本 祐真 所属 川崎医科大学 医学部 基礎医学 免疫学 職種 助教 |
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| 論文種別 | 原著 |
| 言語種別 | 英語 |
| 査読の有無 | 査読あり |
| 表題 | Clinicopathological significance of EGFR pathway gene mutations and CRTC1/3-MAML2 fusions in salivary gland mucoepidermoid carcinoma. |
| 掲載誌名 | 正式名：Histopathology 略 称：Histopathology ISSNコード：13652559/03090167 |
| 掲載区分 | 国外 |
| 巻・号・頁 | 76(7),pp.1013-1022 |
| 著者・共著者 | Maki Morita, Takayuki Murase, Yoshihide Okumura, Kaori Ueda, Yuma Sakamoto, Ayako Masaki, Daisuke Kawakita, Yuichiro Tada, Ken-Ichi Nibu, Yasuyuki Shibuya, Hiroshi Inagaki |
| 発行年月 | 2020/06 |
| 概要 | AIMS:Mucoepidermoid carcinoma (MEC) is one of the most common salivary gland carcinomas. Epidermal growth factor receptor (EGFR) signalling pathway gene mutations are important in predicting a patient's prognosis, selecting molecularly targeted drugs and estimating the efficacy of a molecular therapy. However, their significance in MEC have been poorly clarified. CRTC1/3-MAML2 fusions are specific to MEC and may be associated with favourable characteristics in these patients.METHODS AND RESULTS:We looked for CRTC1/3-MAML2 fusions and gene alterations in the EGFR, RAS family (KRAS, HRAS and NRAS), PIK3CA, BRAF and AKT1 in 101 MEC cases. We also examined mutations in TP53. CRTC1/3-MAML2 fusions were found in 62.4% of the cases. KRAS, HRAS and PIK3CA mutations were detected in 6.9%, 2.0% and 6.9%, respectively, but other EGFR pathway genes were not mutated. In total, gene mutations (RAS/PIK3CA) in the EGFR pathway were detected in 14.9% of the cases. TP53 mutations were found in 20.8%. CRTC1/3-MAML2 fusions were associated with a better prognosis and RAS/PIK3CA mutations a worse prognosis of the patients, respectively, and both were selected as independent prognostic factors for the overall survival of the patients. TP53 mutations had no prognostic impact. CRTC1/3-MAML2 fusion-positive rates were inversely associated with the patients' age and the fusions were found in 82% of patients aged < 30 years.CONCLUSIONS:RAS/PIK3CA mutations were frequently detected, and may be a biomarker for a poorer prognosis in MEC patients. CTRC1/3-MAML2 fusions were positive in most of the young MEC patients. |
| DOI | 10.1111/his.14100 |
| PMID | 32129900 |