Incidence and prognostic impact of U2AF1 mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion

Autor:	Martín I. Castillo, Villamón E. Ribate, Calabuig M. Muñoz, Sanz G. Santillana, Such E. Taboada, Mora E. Casterá, Calasanz M. J. Abinzano, Irigoyen A. Barranco, Collado R. Nieto, Vara M. Pampliega, M. L. Blanco, Álvarez S. deAndrés, Pérez J. deOteyza, Bernal T. delCastillo, Granada I. Font, Jerez A. Cayuela, M. Díez‐Campelo, Abellán R. Sánchez, Solano C. Vercet, Tormo M. Díaz, Grupo Español de Síndromes Mielodisplásicos (GESMD)
Jazyk:	angličtina
Rok vydání:	2023
Předmět:	20q deletion myelodysplastic neoplasms prognosis quantitative allele‐specific PCR U2AF1 mutations Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Zdroj:	Cancer Medicine, Vol 12, Iss 16, Pp 16788-16792 (2023)
Druh dokumentu:	article
ISSN:	2045-7634
DOI:	10.1002/cam4.6300
Popis:	Abstract Background In myelodysplastic neoplasms (MDS), the 20q deletion [del(20q)] is a recurrent chromosomal abnormality that it has a high co‐occurrence with U2AF1 mutations. Nevertheless, the prognostic impact of U2AF1 in these MDS patients is uncertain and the possible clinical and/or prognostic differences between the mutation type and the mutational burden are also unknown. Methods Our study analyzes different molecular variables in 100 MDS patients with isolated del(20q). Results & Conclusions We describe the high incidence and negative prognostic impact of U2AF1 mutations and other alterations such as in ASXL1 gene to identify prognostic markers that would benefit patients to receive earlier treatment.
Databáze:	Directory of Open Access Journals
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