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| 標題: | Characterization of Driver Mutations in Anaplastic Thyroid Carcinoma IdentifiesRASandPIK3CAMutations as Negative Survival Predictors |
| 作者: | Lai, Wei-An
Liu, Chih-Yi
Lin, Shih-Yao
Chen, Chien-Chin
Hang, Jen-Fan |
| 貢獻者: | Taipei Vet Gen Hosp, Dept Pathol & Lab Med
Sijhih Cathay Gen Hosp, Div Pathol
Far Eastern Mem Hosp, Dept Pathol
Ditmanson Med Fdn Chia Yi Christian Hosp, Dept Pathol
Chia Nan Univ Pharm & Sci, Dept Cosmet Sci
Natl Yang Ming Univ, Sch Med |
| 關鍵字: | anaplastic thyroid carcinoma
RAS
BRAF(V600E)
PIK3CA
TERTpromoter
TP53 |
| 日期: | 2020 |
| 上傳時間: | 2022-11-18 11:23:52 (UTC+8) |
| 出版者: | Mdpi |
| 摘要: | Anaplastic thyroid carcinoma (ATC) is rare but highly aggressive. We investigated the association of selected driver mutations, includingBRAF,RAS,PIK3CA,TERTpromoter,TP53,POLE, and mismatch repair deficiency (MMR-D) with the clinicopathological features of ATC to identify prognostic and predictive biomarkers. Thirty-nine retrospective cases from pathology archives were enrolled for clinicopathology analysis and immunohistochemistry, and 27 cases had sufficient specimens for further molecular testing using targeted next-generation sequencing and mass spectrometry.BRAF(V600E)andRASmutations were identified in 25.9% and 40.7% of ATC, respectively.BRAF(V600E)mutation was significantly associated with coexisting papillary thyroid carcinoma (p= 0.009) andRASmutations with female gender (p= 0.012). In univariant analysis, the non-BRAF/RAStumors were significantly associated with the presence of a sarcomatoid pattern (p= 0.045).PIK3CA,TERTpromoter, andTP53mutations were identified in 14.8%, 81.5%, and 70.4% of cases, respectively. No MMR-D orPOLEmutations were detected. In survival analyses,RASandPIK3CAmutations were significantly associated with inferior outcomes (p= 0.03 andp= 0.006, respectively). In conclusion, driver mutations in ATC are associated with distinct clinicopathological features.RASandPIK3CAmutations were negative predictors for patient survival. Emerging therapeutic agents targeting BRAF, RAS, and PI3 kinase may benefit a substantial proportion of ATC patients. |
| 關聯: | Cancers, v.12, n.7, pp.13 |
| 顯示於類別: | [化妝品應用與管理系(所)] 期刊論文
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