Supplemental figure S2 from Multimodal and Data-Driven Assessment of Myeloid Neoplasms Refines Classification across Disease States

作者：Curtis A. Lachowiez, Georgios Asimomitis, Elsa Bernard, Sean M. Devlin, Yanis Tazi, Maria Creignou, Ulrich Germing, Norbert Gattermann, Amanda Gilkes, Ian Thomas, Lars Bullinger, Konstanze Döhner, Luca Malcovati, Jad Othman, Richard Dillon, Ann‐Kathrin Eisfeld, Deedra Nicolet, Ghayas C. Issa, Naval Daver, Tapan M. Kadia, Courtney D. DiNardo, Farhad Ravandi, Guillermo Garcia‐Manero, Guillermo Montalban‐Bravo, Nigel H. Russell, Mario Cazzola, Hartmut Döhner, Brian J.P. Huntly, Robert P. Hasserjian, Eva Hellström‐Lindberg, Elli Papaemmanuil, Sanam Loghavi · 年份：2026 · DOI：10.1158/2643-3230.32728261 · 研究领域：Acute Myeloid Leukemia Research、Genetic factors in colorectal cancer、S100 Proteins and Annexins

<p>Molecular characteristics of SF3B1-mutated MDS. (A) Mixed violin/boxplot depicting the VAF of SF3B1 in patients with clonal vs. subclonal SF3B1 mutations. Box and whisker plot demonstrates median (solid bar), interquartile range, minimum, and maximum VAF values. (B) The number of cases based on the count of co-occurring mutations between SF3B1low vs. SF3B1high MDS. (C) Distribution of identified amino acid variants within the SF3B1 protein. Variant frequency is represented as Log2 values. Location of variants displayed within HEAT domains, conserved regions (1–20) of tandem repeats within the SF3B1 protein. Canonical MDS mutations are commonly associated with domains 4 to 7 (yellow highlight). (D) Barplot depicting clonality of SF3B1low vs. SF3B1high MDS cases. (E) Barplot depicting differences in canonical and non-canonical variants between SF3B1low vs. SF3B1high MDS. (F) Alternative SF3B1 variants identified in SF3B1low vs. SF3B1high MDS. VAF: variant allele frequency. Asterisk indicates Fisher’s exact p-value <0.05.</p>