AUTHOR=Yin Hua , Hong Mei , Deng Jun , Yao Lan , Qian Chenjing , Teng Yao , Li Tingting , Wu Qiuling 

TITLE=Prognostic Significance of Comprehensive Gene Mutations and Clinical Characteristics in Adult T-Cell Acute Lymphoblastic Leukemia Based on Next-Generation Sequencing

JOURNAL=Frontiers in Oncology

VOLUME=Volume 12 - 2022

YEAR=2022

URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2022.811151

DOI=10.3389/fonc.2022.811151

ISSN=2234-943X

ABSTRACT=Background: Adult T-cell acute lymphoblastic leukemia is a heterogeneous malignant tumor with poor prognosis. However, accurate prognostic stratification factors are still unclear. Methods: Data from 90 adult T-cell acute lymphoblastic leukemia/lymphoma (T-ALL/LBL) patients were collected. The association of gene mutations detected by next-generation sequencing and clinical characteristics with the outcomes of T-ALL/LBL patients were retrospectively analyzed to build three novel risk stratification models through cox proportional hazards model. Results: 47 mutated genes were identified. 73.3% of patients had at least one mutation, and 36.7% had ≥3 mutations. The genes with higher mutation frequency were NOTCH1, FBXW7 and DNMT3A. The most frequently altered signaling pathways were NOTCH pathway, transcriptional regulation pathway and DNA methylation pathway. Age (45 years old), PLT (50G/L), LDH (600U/L), response in D19-BMR detection, TP53 and cell cycle signaling pathway alterations and HSCT were integrated into a risk stratification model of EFS. Age (45 years old), WBC (30G/L), response in D19-BMR detection, TP53 and cell cycle signaling pathway alterations and HSCT were integrated into a risk stratification model of OS. According to our risk stratification models, the 1-year EFS and OS rates in low-risk group were significantly higher than that in high-risk group. Conclusions: Our risk stratification models exhibited good prognostic roles in adult T-ALL/LBL patients and might guide individualized treatment and ultimately improve their outcomes.