Impact of somatic and germline mutations on the outcome of systemic mastocytosis by Javier I. Muñoz-González, María Jara-Acevedo, Iván Alvarez-Twose, Jason.

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Presentation transcript:

Impact of somatic and germline mutations on the outcome of systemic mastocytosis by Javier I. Muñoz-González, María Jara-Acevedo, Iván Alvarez-Twose, Jason D. Merker, Cristina Teodosio, Yanli Hou, Ana Henriques, Krishna M. Roskin, Laura Sanchez-Muñoz, Albert G. Tsai, Carolina Caldas, Almudena Matito, J. Ignacio Sánchez-Gallego, Andrea Mayado, Noelia Dasilva-Freire, Jason R. Gotlib, Luis Escribano, Alberto Orfao, and Andrés C. García-Montero BloodAdv Volume 2(21):2814-2828 November 13, 2018 © 2018 by The American Society of Hematology

Javier I. Muñoz-González et al. Blood Adv 2018;2:2814-2828 © 2018 by The American Society of Hematology

Kaplan-Meier estimates of PFS and OS of SM patients (n = 20) grouped according to the number and type of mutations detected. Kaplan-Meier estimates of PFS and OS of SM patients (n = 20) grouped according to the number and type of mutations detected. Panels describe PFS (left panels) and OS (right panels) of patients grouped according to the number of total genetic variants (A), germline genetic variants (B), multilineal somatic mutations (C), and MC restricted (somatic) mutations (D). Values are expressed in years from diagnosis to disease progression (PFS) and death (OS) or the last follow-up visit. Median PFS and/or OS indicates the time point at which half of the patients have progressed to more aggressive forms of the disease or died, respectively. Javier I. Muñoz-González et al. Blood Adv 2018;2:2814-2828 © 2018 by The American Society of Hematology

Kaplan-Meier estimates of PFS and OS of SM patients (n = 34) grouped according to the mutational status of SRSF2, ASXL1, RUNX1 and EZH2 genes. Kaplan-Meier estimates of PFS and OS of SM patients (n = 34) grouped according to the mutational status ofSRSF2,ASXL1,RUNX1 andEZH2 genes. PFS (left panels) and OS (right panels) of SM patients grouped according to the presence vs absence of mutated S/A/R genes (A), the EZH2 mutational status within the S/A/R gene panel (B), and the presence vs absence of mutated S/A/R/E genes (C). Values are expressed in years from diagnosis to disease progression (PFS) and death (OS) or the last follow-up visit. Median PFS and/or OS indicates the time point at which half of the patients have progressed to more aggressive forms of the disease or died, respectively. Javier I. Muñoz-González et al. Blood Adv 2018;2:2814-2828 © 2018 by The American Society of Hematology