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<p>Mutation patterns and survival according to response to Aza/Ven.</p>
Tomoaki Ueda (1780057)
Kentaro Fukushima (5227799)
Sunggi Chi (25157827)
Hiroshi Haeno (206672)
Goichi Yoshimoto (25157830)
Hironori Arai (10964553)
Daisuke Ikeda (425740)
Motoshi Ichikawa (25157833)
Naoto Takahashi (385073)
Naoko Hosono (9512304)
Takahiro Yamauchi (534724)
Takeshi Kondo (600866)
Shigeru Kusumoto (785749)
Junya Kuroda (81185)
Yosuke Minami (464487)
Medicine
Genetics
Pharmacology
Biotechnology
Environmental Sciences not elsewhere classified
Cancer
Hematology
Plant Biology
mutational patterns classified
incomplete hematologic recovery
improved overall survival
aml ); however
acute myeloid leukemia
8 %, 52
cri 33 %).
type 1 –
type 1 (<
type 2 framework
type 2 (<
div >< p
differential response patterns
>) groups based
treatment ngs data
azacitidine plus venetoclax
cri following aza
among 53 first
type 1
1 %,
treatment response
effective treatment
≥ third
world cohort
tet2 </
response heterogeneity
patients treated
nras </
line settings
line setting
line patients
generation sequencing
frequently observed
cytogenetic analyses
complete remission
clinical variables
clinical determinants
53 genes
<p>A. Concordance between G-banding and ELN 2022 cytogenetic risk classifications. Sankey diagram showing reclassification of patients (n = 53) from conventional G-banding–based cytogenetic risk groups (left) to ELN 2022 risk groups (right). Flow width is proportional to the number of cases. Of 1 patient classified as favorable by G-banding, 1 remained favorable under ELN 2022. Of 30 patients classified as intermediate, 16 remained intermediate, 5 were reclassified as favorable, and 9 were reclassified as adverse. Genes involved in risk reclassification included <i>NPM1</i> for intermediate-to-favorable reclassification (n = 5), and <i>EZH2</i> (n = 2), <i>RUNX1</i> (n = 2), <i>SRSF2</i> (n = 2), <i>TP53</i> (n = 2), and <i>U2AF1</i> (n = 1) for intermediate-to-adverse reclassification. All 22 patients classified as adverse remained adverse under ELN 2022, resulting in 31 adverse cases in total. B. Overall survival according to response to first-line Aza/Ven. C. Treatment response according to gene mutation (n ≥ 2). CR/CRi ratios were as follows: <i>IDH1</i> (100%, n = 3), <i>IDH2</i> (100%, n = 3), <i>FLT3-TKD</i> (83%, n = 6), <i>PTPN11</i> (80%, n = 5), <i>NRAS</i> (71%, n = 7), <i>CBL</i> (67%, n = 3), <i>FLT3-ITD</i> (63%, n = 8), <i>NPM1</i> (62%, n = 13), <i>SRSF2</i> (50%, n = 4), <i>EZH2</i> (50%, n = 2), <i>SETBP1</i> (50%, n = 2), <i>NF1</i> (50%, n = 4), <i>GATA2</i> (50%, n = 2), <i>TP53</i> (42%, n = 12), <i>RUNX1</i> (25%, n = 4), and <i>KRAS</i> (17%, n = 6). Green indicates Type 1 mutations, purple indicates Type 2 mutations, and blue indicates other mutations. D. Distribution of treatment response (CR/CRi vs non-CR). CR/CRi (n = 52): type 1 (63%, n = 33), type 2 (15%, n = 8), others (21%, n = 11). Non-CR (n = 38): type 1 (32%, n = 12), type 2 (42%, n = 16), others (26%, n = 10) (p = 0.0050). Aza, azacitidine; CR, complete remission; CRi, CR with incomplete hematologic recovery; ELN, European LeukemiaNet; Ven, venetoclax.</p>
2026-10-01T18:00:01Z
Image
Figure
10.1371/journal.pone.0357898.g002
https://figshare.com/articles/figure/_p_Mutation_patterns_and_survival_according_to_response_to_Aza_Ven_p_/34050063
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