title: Genetic profile of T-cell acute lymphoblastic leukemias with MYC translocations.
abstract: MYC translocations represent a genetic subtype of T-lineage acute lymphoblastic leukemia (T-ALL), which occurs at an incidence of ∼6%, assessed within a cohort of 196 T-ALL patients (64 adults and 132 children). The translocations were of 2 types; those rearranged with the T-cell receptor loci and those with other partners. MYC translocations were significantly associated with the TAL/LMO subtype of T-ALL (P = .018) and trisomies 6 (P < .001) and 7 (P < .001). Within the TAL/LMO subtype, gene expression profiling identified 148 differentially expressed genes between patients with and without MYC translocations; specifically, 77 were upregulated and 71 downregulated in those with MYC translocations. The poor prognostic marker, CD44, was among the upregulated genes. MYC translocations occurred as secondary abnormalities, present in subclones in one-half of the cases. Longitudinal studies indicated an association with induction failure and relapse.
authors.affiliation: Hematology Unit, University of Perugia, Polo Unico S.M. Misericordia, Perugia, Italy;
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.affiliation: Oncohematology, Department of Women's and Children's Health, University of Padova, Padova, Italy;
authors.forename: Chiara
authors.initials: C
authors.lastname: Borga
authors.affiliation: Hematology Unit, University of Perugia, Polo Unico S.M. Misericordia, Perugia, Italy;
authors.forename: Gianluca
authors.initials: G
authors.lastname: Barba
authors.affiliation: Hematology Unit, University of Perugia, Polo Unico S.M. Misericordia, Perugia, Italy;
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.affiliation: Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom;
authors.forename: Claire
authors.initials: C
authors.lastname: Schwab
authors.affiliation: Hematology Unit, University of Perugia, Polo Unico S.M. Misericordia, Perugia, Italy;
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.affiliation: Hematology Unit, University of Perugia, Polo Unico S.M. Misericordia, Perugia, Italy;
authors.forename: Anair G
authors.initials: AG
authors.lastname: Lema Fernandez
authors.affiliation: Oncohematology, Department of Women's and Children's Health, University of Padova, Padova, Italy;
authors.forename: Anna
authors.initials: A
authors.lastname: Leszl
authors.affiliation: Centro Ricerca Tettamanti, Pediatric Clinic University of Milano-Bicocca, Monza, Italy; and.
authors.forename: Gianni
authors.initials: G
authors.lastname: Cazzaniga
authors.affiliation: Division of Hematology, "Sapienza" University of Rome, Rome, Italy.
authors.forename: Sabina
authors.initials: S
authors.lastname: Chiaretti
authors.affiliation: Oncohematology, Department of Women's and Children's Health, University of Padova, Padova, Italy;
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Basso
authors.affiliation: Leukaemia Research Cytogenetics Group, Northern Institute for Cancer Research, Newcastle University, Newcastle-upon-Tyne, United Kingdom;
authors.forename: Christine J
authors.initials: CJ
authors.lastname: Harrison
authors.affiliation: Oncohematology, Department of Women's and Children's Health, University of Padova, Padova, Italy;
authors.forename: Geertruy
authors.initials: G
authors.lastname: Te Kronnie
authors.affiliation: Hematology Unit, University of Perugia, Polo Unico S.M. Misericordia, Perugia, Italy;
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics / Q000378:metabolism; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics / Q000378:metabolism; D018572:Disease-Free Survival; D005260:Female; D020869:Gene Expression Profiling; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics*; D006801:Humans; D018960:Hyaluronan Receptors / Q000096:biosynthesis / Q000235:genetics; D008297:Male; D054218:Precursor T-Cell Lymphoblastic Leukemia-Lymphoma / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D016271:Proto-Oncogene Proteins c-myc / Q000235:genetics* / Q000378:metabolism*; D015996:Survival Rate; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics
chemical_list: C497483:CD44 protein, human; D018960:Hyaluronan Receptors; C489427:MYC protein, human; D016271:Proto-Oncogene Proteins c-myc