title: Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients.
abstract: Of 52 AML-M0 patients studied, 16 presented a RUNX1 mutation (30.8 %) and 8 carried a trisomy 13 (15 %). We found a strong correlation between trisomy 13 and RUNX1 mutations, i.e, 7 out of 8 cases with trisomy 13 carried a mutation in RUNX1 (87.5 %, p<0.00056). Trisomy 13 patients with a RUNX1 mutation showed a 4-fold higher expression of FLT3 mRNA compared to controls, and in a selected number of cases, a higher cell fraction expressing FLT3 and an increase in the number of FLT3 receptors at the cell surface. In conclusion, our results show that trisomy 13 is correlated to RUNX1 mutation and increased FLT3 expression in AML-M0.
authors.affiliation: Department of Toxicogenetics, Leiden University Medical Center, Leiden, The Netherlands.
authors.forename: Fernando P G
authors.initials: FP
authors.lastname: Silva
authors.forename: Alexandra
authors.initials: A
authors.lastname: Lind
authors.forename: Geeske
authors.initials: G
authors.lastname: Brouwer-Mandema
authors.forename: Peter J M
authors.initials: PJ
authors.lastname: Valk
authors.forename: Micheline
authors.initials: M
authors.lastname: Giphart-Gassler
mesh_terms: D000208:Acute Disease; D015331:Cohort Studies; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics* / Q000502:physiology; D005091:Exons / Q000235:genetics; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000145:classification / Q000235:genetics* / Q000378:metabolism; D009154:Mutation; D009363:Neoplasm Proteins / Q000096:biosynthesis / Q000235:genetics*; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D012334:RNA, Neoplasm / Q000096:biosynthesis / Q000235:genetics; D014314:Trisomy; D051941:fms-Like Tyrosine Kinase 3 / Q000096:biosynthesis / Q000235:genetics*
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D009363:Neoplasm Proteins; D012333:RNA, Messenger; D012334:RNA, Neoplasm; C493728:RUNX1 protein, human; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3