title: ADAMTS2 gene dysregulation in T/myeloid mixed phenotype acute leukemia.
abstract: BACKGROUND
  Mixed phenotype acute leukemias (MPAL) include acute leukemias with blasts that express antigens of more than one lineage, with no clear evidence of myeloid or lymphoid lineage differentiation. T/myeloid (T/My) MPAL not otherwise specified (NOS) is a rare leukemia that expresses both T and myeloid antigens, accounting for less than 1% of all leukemias but 89% of T/My MPAL. From a molecular point of view, very limited data are available on T/My MPAL NOS.
  
  
  METHODS
  In this report we describe a T/My MPAL NOS case with a complex rearrangement involving chromosomes 5 and 14, resulting in overexpression of the ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2) gene due to its juxtaposition to the T cell receptor delta (TRD) gene segment.
  
  
  CONCLUSIONS
  Detailed molecular cytogenetic characterization of the complex rearrangement in the reported T/My MPAL case allowed us to observe ADAMTS2 gene overexpression, identifying a molecular marker that may be useful for monitoring minimal residual disease. To our knowledge, this is the first evidence of gene dysregulation due to a chromosomal rearrangement in T/My MPAL NOS.
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Tota
authors.forename: Nicoletta
authors.initials: N
authors.lastname: Coccaro
authors.forename: Antonella
authors.initials: A
authors.lastname: Zagaria
authors.forename: Luisa
authors.initials: L
authors.lastname: Anelli
authors.forename: Paola
authors.initials: P
authors.lastname: Casieri
authors.forename: Angelo
authors.initials: A
authors.lastname: Cellamare
authors.forename: Angela
authors.initials: A
authors.lastname: Minervini
authors.forename: Crescenzio Francesco
authors.initials: CF
authors.lastname: Minervini
authors.forename: Claudia
authors.initials: C
authors.lastname: Brunetti
authors.forename: Luciana
authors.initials: L
authors.lastname: Impera
authors.forename: Paola
authors.initials: P
authors.lastname: Carluccio
authors.forename: Cosimo
authors.initials: C
authors.lastname: Cumbo
authors.forename: Giorgina
authors.initials: G
authors.lastname: Specchia
authors.affiliation: Department of Emergency and Organ Transplantation (D,E,T,O,) - Hematology Section, University of Bari, P,zza G, Cesare, 11 70124 Bari, Italy. francesco.albano@uniba.it.
authors.forename: Francesco
authors.initials: F
authors.lastname: Albano
mesh_terms: D051722:ADAM Proteins / Q000235:genetics*; D000071096:ADAMTS Proteins; D000071121:ADAMTS4 Protein; D000293:Adolescent; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics*; D002895:Chromosomes, Human, Pair 5 / Q000235:genetics*; D015973:Gene Expression Regulation, Leukemic; D006801:Humans; D015456:Leukemia, Biphenotypic, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D011348:Procollagen N-Endopeptidase / Q000235:genetics*; D016692:Receptors, Antigen, T-Cell, gamma-delta / Q000235:genetics; D014178:Translocation, Genetic
chemical_list: D016692:Receptors, Antigen, T-Cell, gamma-delta; D051722:ADAM Proteins; D000071096:ADAMTS Proteins; C000609307:ADAMTS2 protein, human; D011348:Procollagen N-Endopeptidase; D000071121:ADAMTS4 Protein