Clinical implications of additional chromosomal abnormalities in adult acute myeloid leukemia with inv (16)/t(16;16)/CBFB::MYH11

Juehua Gao, Lucas Santana-Santos, Lucy Fu, Emily Alvey, Qing Chen, Kristy Wolniak, Zongjun Xia, Barina Aqil, Amir Behdad, Peng Ji, Madina Sukhanova, Yasmin Abaza, Jessica K. Altman, Yi Hua Chen, Xinyan Lu*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: This study assesses the clinical significance of additional cytogenetic abnormalities (ACAs) and/or the deletion of 3′CBFB (3′CBFBdel) resulting in unbalanced CBFB::MYH11 fusion in acute myeloid leukemia (AML) with inv (16)/t(16;16)/CBFB::MYH11. Methods: We retrospectively evaluated the clinicopathologic features of 47 adult de novo AML with inv (16)/t(16;16)/CBFB::MYH11 fusion. There were 44 balanced and 3 unbalanced CBFB::MYH11 fusions. Given the low frequency of unbalanced cases, the latter group was combined with 19 published cases (N = 22) for statistic and meta-analysis. Results: Both balanced and unbalanced cases were characterized by frequent ACAs (56.5% and 72.7%, respectively), with +8, +22, and del(7q) as the most frequent abnormalities. The unbalanced group tends to be younger individuals (p =.04) and is associated with a lower remission rate (p =.02), although the median overall survival (OS) was not statistically different (p =.2868). In the balanced group, “ACA” subgroup had higher mortality (p =.013) and shorter OS (p =.011), and patients with relapsed disease had a significantly shorter OS (p =.0011). Cox multivariate regression analysis confirmed that ACAs and history of disease relapse are independent risk factors, irrespective of disease relapse status. In the combined cohort, cases with ACAs had shorter OS than those with “Sole” abnormality (p =.0109). Conclusions: ACAs are independent high-risk factors in adult AML with inv (16)/t(16;16)/CBFB::MYH11 fusion and should be integrated for risk stratification in this disease. Larger studies are needed to assess the clinical significance of the unbalanced CBFB::MYH11 fusion resulting from the 3′CBFBdel.

Original languageEnglish (US)
Pages (from-to)964-974
Number of pages11
JournalEuropean Journal of Haematology
Volume112
Issue number6
DOIs
StatePublished - Jun 2024

Keywords

  • AML
  • CBFB::MYH11 fusion
  • acute myeloid leukemia
  • additional chromosomal abnormalities (ACAs)
  • cytogenetic heterogeneity
  • inv (16)/t(16;16)

ASJC Scopus subject areas

  • Hematology

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