Incidence and prognostic impact of <scp><i>U2AF1</i></scp> mutations and other gene alterations in myelodysplastic neoplasms with isolated 20q deletion-Reference-Cited by-同舟云学术

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

Published:2023-07-05 Issue:16 Volume:12 Page:16788-16792
ISSN:2045-7634
Container-title:Cancer Medicine
language:en
Short-container-title:Cancer Medicine

Author:

Castillo Martín I.¹^ORCID,Ribate Villamón E.¹,Muñoz Calabuig M.¹,Santillana Sanz G.²,Taboada Such E.²,Casterá Mora E.²,Abinzano Calasanz M. J.³,Barranco Irigoyen A.³,Nieto Collado R.⁴,Pampliega Vara M.⁵,Blanco M. L.⁶,de Andrés Álvarez S.⁷,de Oteyza Pérez J.⁸,del Castillo Bernal T.⁹,Font Granada I.¹⁰,Cayuela Jerez A.¹¹,Díez‐Campelo M.¹²,Sánchez Abellán R.¹³,Vercet Solano C.¹,Díaz Tormo M.¹,

Affiliation:

1. Servicio de Hematología Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA Valencia Spain

2. Servicio de Hematología Hospital Universitario y Politécnico La Fe, Instituto de Investigación Sanitaria La Fe, CIBERONC – ISCIII Valencia Spain

3. CIMA LAB Diagnostics Universidad de Navarra, CIBERONC – ISCIII Pamplona Spain

4. Servicio de Hematología Consorcio Hospital General Universitario de Valencia Valencia Spain

5. Servicio de Hematología y Hemoterapia del Hospital Universitario de Cruces Barakaldo Spain

6. Servicio de Hematología Hospital de la Santa Creu i Sant Pau Valencia Spain

7. NIMGenetics, Genómica y Medicina Madrid Spain

8. Servicio de Hematología Hospital Universitario HM Madrid Madrid Spain

9. Servicio de Hematología Hospital Universidad de Asturias, IISPA, IUOPA Valencia Spain

10. Servicio de Hematología, Hospital Germans Trias i Pujol, Institut Català d'Oncologia, Institut de Recerca contra la Leucèmia Josep Carreras Universidad Autónoma de Barcelona, CIBERONC – ISCIII Bellaterra Spain

11. Servicio de Hematología Hospital Universitario Morales Meseguer Murcia Spain

12. Servicio de Hematología Hospital Universitario de Salamanca, CIBERONC – ISCIII Salamanca Spain

13. Departamento de Bioquímica y Patología Molecular Hospital Clínico Universitario de Valencia, Instituto de Investigación Sanitaria INCLIVA Valencia Spain

Abstract

AbstractBackgroundIn 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.MethodsOur study analyzes different molecular variables in 100 MDS patients with isolated del(20q).Results & ConclusionsWe 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.

Publisher

Wiley

Subject

Cancer Research,Radiology, Nuclear Medicine and imaging,Oncology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/cam4.6300

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5. Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations