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oai:figshare.com:article/34050066 2026-10-01T18:00:08Z category_7 category_13 category_19 category_21 category_272 category_64 category_128 category_133 portal_5 item_type_1 month_year_10_2026

<p>Clinical outcomes according to type 1 and type 2 mutations.</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. Circos plot of 21 genetic mutations detected in this study. Genes are classified into three categories according to the outer arc colors: green indicates Type 1 mutations, purple indicates Type 2 mutations, and blue indicates other mutations. Ribbons connecting genes represent pairwise associations between mutations. Red ribbons indicate positive associations, whereas blue ribbons indicate negative associations; color intensity reflects the statistical significance of the association, expressed as −log10(P value). B. The distribution of gene mutations: type 1 mutations only, 34%; type 2 mutations only, 23%; neither type 1 nor type 2 mutations, 26%; and both types, 17%. C. Response rates according to gene groups: type 1+ and type 2- (CR/CRi 72%, non-CR 28%), type 1- and type 2+ (CR/CRi 33%, non-CR 67%). D. A representative case of type 1 mutation only (#HM02–138): An AML patient harbored <i>FLT3-ITD</i> (Q580_Y597dup, Y589_F590ins11), <i>NRAS</i> G13D, and <i>PTPN11</i> P491L mutations. The patient received Aza/Ven and achieved CRi, followed by allogeneic stem cell transplantation (allo-SCT). Although the patient relapsed after allo-SCT, two additional cycles of Aza/Ven induced a second remission. E. Response rates according to gene groups: type 1- and type 2- (CR/CRi 57%, non-CR 43%), type 1+ and type 2+ (CR/CRi 44%, non-CR 56%). F. Overall survival (OS) according to gene groups: type 1+ and type 2-; median OS 16.4 months (95% CI: 5.3-NA), type 1- and type 2 + ; median OS 4.9 months (95% CI: 1.2-NA), type 1+ and type 2 + ; median OS 10.2 months (95% CI: 2.2-NA), type 1- and type 2-; median OS 14.5 months (95% CI: 3.9–23.1) (p = 0.0303). OS differed significantly between the type 1 + /type 2 − group and the type 1 − /type 2 + group (p = 0.0023). Aza, azacitidine; CI, confidence interval; CR, complete remission; CRi, CR with incomplete hematologic recovery; Dx, diagnosis; OS, overall survival; NA, not available; Rel, relapse; SCT, stem cell transplantation; Ven, venetoclax.</p> 2026-10-01T18:00:01Z Image Figure 10.1371/journal.pone.0357898.g003 https://figshare.com/articles/figure/_p_Clinical_outcomes_according_to_type_1_and_type_2_mutations_p_/34050066 CC BY 4.0