ASXL1 mutation confers poor prognosis in primary myelofibrosis patients with low JAK2V617F allele burden but not in those with high allele burden.
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ABSTRACT:
SUBMITTER: Wang YH
PROVIDER: S-EPMC7550588 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
Publications
ASXL1 mutation confers poor prognosis in primary myelofibrosis patients with low JAK2V617F allele burden but not in those with high allele burden.
Wang Yu-Hung YH Lin Chien-Chin CC Lee Sze-Hwei SH Tsai Cheng-Hong CH Wu Shan-Ju SJ Hou Hsin-An HA Huang Tai-Chung TC Kuo Yuan-Yeh YY Yao Ming M Chang Koping K Lin Chung-Wu CW Lin Yun-Chu YC Tien Fen-Ming FM Chou Wen-Chien WC Tang Jih-Luh JL Tien Hwei-Fang HF
Blood cancer journal 20201012 10
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Project description:ObjectiveTo explore the mutated genes in esophageal cancer (ESCA), and evaluate its relationship with tumor mutation burden (TMB) and prognosis of ESCA, and analyze the advantages of FAT3 as a potential prognostic marker in ESCA.MethodsThe somatic mutation landscape was analyzed according to ESCA samples from the TCGA and ICGC database. The differences of TMB between mutant type and wild type of frequently mutated genes were compared by Mann-Whitney U test. The association of gene mutations with prognosis was analyzed by Kaplan-Meier method. The relative abundance of 22 tumor-infiltrating lymphocyte subsets in ESCA was calculated by CIBERSORT algorithm.ResultsFAT3 was a high frequency mutation in both TCGA and ICGC samples from the somatic mutation landscape. Then, the mutation type of FAT3 had significantly higher TMB in patients with ESCA compared the wild type (P<0.05). Meanwhile, the prognosis of FAT3 mutation type was significantly worse in patients with ESCA(P<0.05), and the FAT3 mutation status might be an independent factor for prognosis of patients with ESCA (HR: 1.262-5.922, P=0.011). The GSEA analysis revealed the potential mechanism of FAT3 mutation on the occurrence and development of ESCA. Finally, naive B cells were significantly enriched in FAT3 mutation samples of the ESCA microenvironment (P<0.05).ConclusionsFAT3 mutation is related to TMB and poor prognosis in ESCA. FAT3 mutation may be a prognostic marker of ESCA, and reveal the potential mechanism of FAT3 mutation on ESCA.
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