Co-mutation ofASXL1andSF3B1Predicts Poorer Overall Survival Than IsolatedASXL1orSF3B1Mutations

Song, Jinming; Moscinski, Lynn C.; Yang, Ethan; Shao, Hu; Hussaini, Mohammad; Zhang, Hailing

doi:10.21873/invivo.13172

Cited by 1 publication

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References 67 publications

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“… 34 A shorter survival was also observed in patients suffering from myeloid neoplasms when ASXL1 mt were complicated with mutations of SF3B1 , SETBP1 , or JAK2‐V617F . 36 , 37 , 38 Similar to ASXL1 , RUNX1 has also been categorized into adverse prognostic genes in the AML cohort according to the 2022 ELN guidelines. 18 A high frequency and a significantly inferior survival of RUNX1 co‐mutations in patients with AML or MDS carrying ASXL1 mt was observed in previous studies, both in the elderly cohort 39 , 40 and the younger cohort.…”

Section: Discussionmentioning

confidence: 99%

Prognosis and risk factors for ASXL1 mutations in patients with newly diagnosed acute myeloid leukemia and myelodysplastic syndrome

Yang,

Wei,

Gong

2023

Cancer Medicine

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ObjectiveThe objective of the study was to determine the prognosis and risk factors for additional sex combs like 1 (ASXL1) mutations in patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS).Population and MethodsThis retrospective study enrolled 219 adult patients with newly diagnosed AML and MDS, who were treated in West China Hospital from October 2018 to January 2022. The primary clinical outcome was evaluated by overall survival (OS) followed up to January 2023. Kaplan–Meier analysis and Cox multivariate regression analysis were performed to identify potential prognostic parameters in patients with ASXL1 mutations (mt).ResultsA total of 34 (15.53%) ASXL1mt were detected, which occurred more frequently in the elderly and MDS cohorts (p < 0.001). Significantly lower blasts% (p < 0.001) and higher frequencies of mutant RUNX1, SRSF2, STAG2, EZH2, and SETBP1 (p < 0.02) were observed in the ASXL1mt cohort. Patients with ASXL1mt manifested with a worse complete remission rate (p = 0.011), and an inferior OS was shown in subgroups with MDS, co‐mutations of RUNX1, SRSF2, or NRAS, as well as mutations in G646W (p < 0.05). Multivariate analysis considering age, diagnosis, co‐mutations, and mutation site confirmed an independently adverse prognosis of mutations in G646W (HR = 4.302, 95% CI: 1.150–16.097) or RUNX1 co‐mutations (HR = 4.620, 95% CI: 1.385–15.414) in the ASXL1mt cohort.ConclusionOur study indicated that mutations in G646W or RUNX1 co‐mutations are closely associated with a dismal clinical outcome in patients with AML and MDS harboring ASXL1mt. Considering the poor prognosis and risk factors in patients with ASXL1mt, more available treatments should be pursued.

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