2026-04-29T04:10:09Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/188972024-11-29T22:34:24Zcom_20.500.12105_2173com_20.500.12105_2051col_20.500.12105_19597

00925njm 22002777a 4500 dc Carreño-Tarragona, Gonzalo author Álvarez-Larrán, Alberto author Harrison, Claire author Martínez-Ávila, José Carlos author Hernández-Boluda, Juan Carlos author Ferrer-Marín, Francisca author Radia, Deepti H author Mora, Elvira author Francis, Sebastian author González-Martínez, Teresa author Goddard, Kathryn author Pérez-Encinas, Manuel author Narayanan, Srinivasan author Raya, José María author Singh, Vikram author Gutiérrez, Xabier author Toth, Peter author Amat-Martínez, Paula author Mcilwaine, Louisa author Alobaidi, Magda author Mayani, Karan author McGregor, Andrew author Stuckey, Ruth author Psaila, Bethan author Segura, Adrián author Alvares, Caroline author Davidson, Kerri author Osorio, Santiago author Cutting, Robert author Sweeney, Caroline P author Rufián, Laura author Moreno, Laura author Cuenca, Isabel author Smith, Jeffery author Morales, María Luz author Gil-Manso, Rodrigo author Koutsavlis, Ioannis author Wang, Lihui author Mead, Adam J author Rozman, María author Martinez-Lopez, Joaquin author Ayala, Rosa author Cross, Nicholas C P author 2023-05-09 Chronic neutrophilic leukemia (CNL) and atypical chronic myeloid leukemia (aCML) are rare myeloid disorders that are challenging with regard to diagnosis and clinical management. To study the similarities and differences between these disorders, we undertook a multicenter international study of one of the largest case series (CNL, n = 24; aCML, n = 37 cases, respectively), focusing on the clinical and mutational profiles (n = 53 with molecular data) of these diseases. We found no differences in clinical presentations or outcomes of both entities. As previously described, both CNL and aCML share a complex mutational profile with mutations in genes involved in epigenetic regulation, splicing, and signaling pathways. Apart from CSF3R, only EZH2 and TET2 were differentially mutated between them. The molecular profiles support the notion of CNL and aCML being a continuum of the same disease that may fit best within the myelodysplastic/myeloproliferative neoplasms. We identified 4 high-risk mutated genes, specifically CEBPA (β = 2.26, hazard ratio [HR] = 9.54, P = .003), EZH2 (β = 1.12, HR = 3.062, P = .009), NRAS (β = 1.29, HR = 3.63, P = .048), and U2AF1 (β = 1.75, HR = 5.74, P = .013) using multivariate analysis. Our findings underscore the relevance of molecular-risk classification in CNL/aCML as well as the importance of CSF3R mutations in these diseases. Blood Adv. 2023 ;7(9):1672-1681. http://hdl.handle.net/20.500.12105/18897 36375042 10.1182/bloodadvances.2022008204 2473-9537 Blood advances CNL and aCML should be considered as a single entity based on molecular profiles and outcomes.