Genomic profiling for decision-making in post–polycythemia vera and post–essential thrombocythemia myelofibrosis

Blood 2026 Open access

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Authors: Bárbara Mora, Francesca Palandri, Paola Guglielmelli, Andrew Kuykendall, Margherita Maffioli, Alessandra Iurlo, Valerio De Stefano, Silvia Salmoiraghi, Timothy Devos, Federico Itri, Francisco Cervantes, Jean‐Jacques Kiladjian
+26 more Matteo G. Della Porta, Francesco Albano, J Gotlib, Giulia Benevolo, Marianna Caramella, Marco Ruggeri, Elisa Rumi, David M. Ross, Chiara Pessina, Ilaria Colugnat, F. Orsini, Giorgia Micucci, Giada Rotunno, Rami S. Komrokji, Daniele Cattaneo, Patrizia Chiusolo, Marta Bortolotti, Tiziano Barbui, Daniela Cilloni, Massimo Breccia, Giuseppe Alberto Palumbo, Filippo Branzanti, Ludovica Margotto, M. Franchi, Alessandro M. Vannucchi, Francesco Passamonti
DOI: 10.1182/blood.2025031366
Cited by: 9
References: 62

Abstract

ABSTRACT: Secondary myelofibrosis (SMF) represents a late stage of polycythemia vera (PV) and essential thrombocythemia (ET), with overall survival (OS) currently defined by the myelofibrosis secondary to PV and ET prognostic model (MYSEC-PM). To identify additional myeloid neoplasm-associated cancer gene variants (CGVs) associated with SMF outcome, we evaluated next-generation sequencing panel testing in 644 patients within the MYSEC cohort. Overall, 429 (66.6%) patients reported at least 1 CGV, with ASXL1, TET2, and DNMT3A being the most frequently involved. Specific molecular profiles affected OS (P< .001): U2AF1, TP53, or SRSF2 variants (UTS; 9.3%; median OS, 4.1 years) and ASXL1 without UTS (25.3%; median OS, 8.4 years). By integrating these genetic signatures within the MYSEC-PM through penalized Cox regressions, we identified the following independent predictors (P< .0001 to .02): hemoglobin level

Fields of Study & Subjects

Myeloproliferative Neoplasms: Diagnosis and Treatment Multiple Myeloma Research and Treatments Acute Myeloid Leukemia Research

Publication details

Journal / source
Blood
Publisher
American Society of Hematology
Volume
148
Issue
1
Pages
43–57
Publication date
5 March 2026
Language
EN