title: Childhood near-tetraploid acute lymphoblastic leukemia: an EGIL study on 36 cases.
abstract: OBJECTIVE
  Patients with near-tetraploid (karyotype: 81 - 103 chromosomes) acute lymphoblastic leukemia (NT-ALL) constitute about 1% of childhood ALL and data reported on them are limited and controversial. The aim of the study was to enlarge the knowledge on these rarely occurring ALL.
  
  
  METHODS
  The members of the European Group for Immunophenotyping of Leukemias (EGIL) searched retrospectively their databases for NT-ALL patients.
  
  
  RESULTS
  We collected data of 36 European children from seven European countries with NT-ALL diagnosed since 1992. All patients reached complete remission (CR) after induction chemotherapy. Their blasts were negative for peroxidase and BCR-ABL1. Ten children were diagnosed as T-cell ALL (T-ALL) EGIL categories (T-I n=2, T-II n=2, T-III n=3, T-IV n=3) and four displayed various structural chromosomal abnormalities. Eight of 10 T-ALL remained in 1st CR; one died in CR from sepsis and one is alive in 2nd CR. Median survival was 88 (7-213) months. B-cell precursor (BCP) ALL was diagnosed in 26 children. Thirteen were positive for ETV6-RUNX1 and are alive in 1st CR for 32-147 months. Ten children were ETV6-RUNX1 negative and remained in 1st CR for 16-163 months. One girl with hypodiploid and NT metaphases and ETV6-RUNX1-negative BCP-ALL and one of two boys with NT-BCP-ALL not examined for ETV6-RUNX1 died of infection after stem cell transplantation in 2nd/3rd CR. Secondary myelodysplastic syndrome developed in two patients with NT-BCP-ALL.
  
  
  CONCLUSIONS
  Our data demonstrate immunophenotypic, cytogenetic, and molecular heterogeneity of NT-ALL and favorable prognosis of most NT-ALL across different immunophenotypic and/or genetic ALL subtypes.
authors.affiliation: Department of Hematology and Blood Transfusion, Hospital Jihlava, Jihlava, Czech Republic. plemez@post.cz
authors.forename: Petr
authors.initials: P
authors.lastname: Lemez
authors.forename: Andishe
authors.initials: A
authors.lastname: Attarbaschi
authors.forename: Marie C
authors.initials: MC
authors.lastname: Béné
authors.forename: Yves
authors.initials: Y
authors.lastname: Bertrand
authors.forename: Gianluigi
authors.initials: G
authors.lastname: Castoldi
authors.forename: Erik
authors.initials: E
authors.lastname: Forestier
authors.forename: Richard
authors.initials: R
authors.lastname: Garand
authors.forename: Oskar A
authors.initials: OA
authors.lastname: Haas
authors.forename: Sandrine
authors.initials: S
authors.lastname: Kagialis-Girard
authors.forename: Wolf-Dieter
authors.initials: WD
authors.lastname: Ludwig
authors.forename: Estella
authors.initials: E
authors.lastname: Matutes
authors.forename: Ester
authors.initials: E
authors.lastname: Mejstríková
authors.forename: Marie-Pierre
authors.initials: MP
authors.lastname: Pages
authors.forename: Winfried
authors.initials: W
authors.lastname: Pickl
authors.forename: Anna
authors.initials: A
authors.lastname: Porwit
authors.forename: Alberto
authors.initials: A
authors.lastname: Orfao
authors.forename: Richard
authors.initials: R
authors.lastname: Schabath
authors.forename: Jan
authors.initials: J
authors.lastname: Starý
authors.forename: Herbert
authors.initials: H
authors.lastname: Strobl
authors.forename: Pascaline
authors.initials: P
authors.lastname: Talmant
authors.forename: Mars B
authors.initials: MB
authors.lastname: van't Veer
authors.forename: Zuzana
authors.initials: Z
authors.lastname: Zemanová
mesh_terms: D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002648:Child; D002869:Chromosome Aberrations; D050676:Core Binding Factor Alpha 2 Subunit; D005060:Europe; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000188:drug therapy / Q000453:epidemiology / Q000235:genetics / Q000276:immunology / Q000401:mortality; D011379:Prognosis; D012074:Remission Induction; D012189:Retrospective Studies; D016019:Survival Analysis; D016896:Treatment Outcome; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D016044:Fusion Proteins, bcr-abl; D015514:Oncogene Proteins, Fusion; C102421:TEL-AML1 fusion protein; D000097764:ETS Translocation Variant 6 Protein