Article
Myelodysplastic syndromes with 20q deletion: incidence, prognostic value and impact on response to azacitidine of ASXL1 chromosomal deletion and genetic mutations.
British journal of haematology - 1 Aug 2021
Martín Iván, Villamón Eva, Abellán Rosario, Calasanz Maria José, Irigoyen Aroa, Sanz Guillermo, Such Esperanza, Mora Elvira, Gutiérrez Míriam, Collado Rosa, García-Serra Rocío, Vara Míriam, Blanco Mª Laura, Oiartzabal Itziar, Álvarez Sara, Bernal Teresa, Granada Isabel, Xicoy Blanca, Jerez Andrés, Calabuig Marisa, Diez Rosana, Gil Ángela, Díez-Campelo María, Solano Carlos, Tormo Mar
Abstract excerpt
In myelodysplastic syndromes (MDS), the 20q deletion [del(20q)] may cause deletion of the ASXL1 gene. We studied 153 patients with MDS and del(20q) to assess the incidence, prognostic value and impact on response to azacitidine (AZA) of ASXL1 chromosomal alterations and genetic mutations. Additionally, in vitro assay of the response to AZA in HAP1 (HAP1WT ) and HAP1 ASXL1 knockout (HAP1KN ) cells was performed....
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