Integrated genomic and transcriptomic analysis improves disease classification and risk stratification of MDS with ring sideroblasts.

Gabriele Todisco Maria Creignou Elsa Bernard Ann-Charlotte Björklund Pedro Luis Moura Bianca Tesi Teresa Mortera Blanco Birgitta Sander Monika Jansson Gunilla Walldin Indira Barbosa Susanne Erika Reinsbach Isabel Juliana Hofman Christer Nilsson Tetsuichi Yoshizato Marios Dimitriou David Chang Svanhildur Olafsdottir Sigita Venckute Larsson Magnus Tobiasson Luca Malcovati Petter S Woll Sten Eirik W Jacobsen Elli Papaemmanuil Eva Hellström Lindberg

Published in: Clinical cancer research : an official journal of the American Association for Cancer Research (2023)

These results provide essential input on the molecular basis of SF3B1-unmutated MDSRS+ and propose HSPC quantification as a prognostic marker in myeloid neoplasms with RS.

Keyphrases

machine learning
deep learning
bone marrow
dendritic cells
acute myeloid leukemia
copy number
gene expression
genome wide