학술논문
Genomic analysis of a familial myelodysplasia/acute myeloid leukemia and inherited RUNX1 mutations without a pre-existing platelet disorder.
Document Type
Letter
Author
Prieto-Conde, María Isabel; Labrador, Jorge; Hermida, Gerardo; Alonso, Sara; Jiménez, Cristina; García-Álvarez, María; Medina, Alejandro; Balanzategui, Ana; Alcoceba, Miguel; Sarasquete, María Eugenia; Puig, Noemí; González, Verónica; Gutiérrez, Norma C.; García-Sanz, Ramón; González-Díaz, Marcos; Chillón, María del Carmen
Source
Subject
*BLOOD platelet disorders
*ACUTE myeloid leukemia
*DISEASES
*BLOOD platelets
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Language
ISSN
1042-8194
Abstract
Both I RUNX1 i and I TP53 i mutations were already present in the PB DNA of patient II.5 at least one year before diagnosis, although the 5q deletion present at diagnosis was not detected. Additionally, we sequenced a posttransplant sample from patient II.5 in CR with positive MRD and detected the same mutations as in the diagnostic sample, but at lower allele frequencies: 2.7% I RUNX1 i p.L56S and 2% I TP53 i p.G245D. Although the reason why the second mutation occurred in I TP53 i in both patients is unknown, previous studies have demonstrated a cooperation between I RUNX1 i and I TP53 i . In addition, findings from this family add to the existing evidence that I RUNX1 i is a highly penetrant leukemia predisposing gene and that I TP53 i mutations are the final leukemia-causing event. [Extracted from the article]