title: Study of the S427G polymorphism and of MYBL2 variants in patients with acute myeloid leukemia.
abstract: Dysregulation of MYBL2 has been associated to tumorigenesis and the S427G polymorphism could induce partial inactivation of MYBL2, associating it with cancer risk. It has previously been shown that MYBL2 was over-expressed in some acute myeloid leukemias (AML), portending poor prognosis. However, to date no studies have investigated the S427G or other genetic variants of MYBL2 in AML. This study analyzed the S427G in 197 AML patients and 179 controls and screened the MYBL2 sequence in patients. In contrast to other studies in solid tumors, the S427G was not associated with the incidence of AML. This study detected four unannotated genetic alterations, of which the Q67X could be involved in MYBL2 dysfunction. Eight polymorphisms were identified, among which the rs73116571, located in a splicing region, was associated with higher incidence in AML and weaker MYBL2 expression, suggesting pre-disposition to AML. Additional functional studies should be performed to verify these genetic variations as possible targets in AML.
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Sandra
authors.initials: S
authors.lastname: Dolz
authors.affiliation: b Institute of Biomedical Research, University of Birmingham , UK.
authors.forename: Paloma
authors.initials: P
authors.lastname: García
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Marta
authors.initials: M
authors.lastname: Llop
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Óscar
authors.initials: Ó
authors.lastname: Fuster
authors.affiliation: c Department of Hematology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Luna
authors.affiliation: c Department of Hematology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Mariam
authors.initials: M
authors.lastname: Ibáñez
authors.affiliation: c Department of Hematology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Inés
authors.initials: I
authors.lastname: Gómez
authors.affiliation: c Department of Hematology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: María
authors.initials: M
authors.lastname: López
authors.affiliation: c Department of Hematology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Esperanza
authors.initials: E
authors.lastname: Such
authors.affiliation: c Department of Hematology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: José
authors.initials: J
authors.lastname: Cervera
authors.affiliation: c Department of Hematology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Miguel A
authors.initials: MA
authors.lastname: Sanz
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Inmaculada
authors.initials: I
authors.lastname: De Juan
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Sarai
authors.initials: S
authors.lastname: Palanca
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Rosa
authors.initials: R
authors.lastname: Murria
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Pascual
authors.initials: P
authors.lastname: Bolufer
authors.affiliation: a Department of Medical Pathology , Hospital Universitario y Politécnico La Fe , Valencia , Spain.
authors.forename: Eva
authors.initials: E
authors.lastname: Barragán
keywords: MYBL2; acute myeloid leukemia; mutation; polymorphism