title: Molecular combing: A new tool in diagnosing leukemia.
abstract: BACKGROUND
  According to the World Health Organization (WHO), recurrent cytogenetic abnormalities define many specific groups of hematopoietic tumors of acute myeloid and lymphoblastic leukemia, and these abnormalities are often strongly associated with prognosis and sometimes require specific treatments. These rearrangements are commonly detected by conventional and molecular cytogenetic techniques.
  
  
  OBJECTIVE
  Using an alternative method, we sought to highlight the presence of chromosomal rearrangements.
  
  
  METHODS
  We applied molecular combing to detect and directly visualize gene fusions associated with balanced translocations found in acute leukemia.
  
  
  RESULTS
  In patients harboring t(12;21)(p13;q22), we demonstrated the presence of the fusion using specific probes covering the ETV6 and RUNX1 genes, with a positive result occurring due to the hybridization of the two probes to the same DNA fiber. Thanks to molecular combing, we also showed the presence of different breakpoints using these same probes.
  
  
  CONCLUSIONS
  Using several probes that are specific to the most common genes involved in acute leukemia, molecular combing could be an interesting additional tool in acute leukemia diagnosis.
authors: Laboratoire d'Hématologie, CHU de Hautepierre, Strasbourg, France.
authors: Antoine
authors: A
authors: Ittel
authors: Département de Génétique Médicale, AP-HM La Timone, Marseille, France.
authors: Hélène
authors: H
authors: Zattara
authors: Département de Génétique Médicale, AP-HM La Timone, Marseille, France.
authors: Charlène
authors: C
authors: Chaix
authors: Département d'Hématologie Pédiatrique, AP-HM La Timone, Marseille, France.
authors: Gérard
authors: G
authors: Michel
authors: Département de Génétique Médicale, AP-HM La Timone, Marseille, France.|Inserm UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de Marseille, Université Aix-Marseille, France.
authors: Nicolas
authors: N
authors: Levy
mesh_terms: D002648:Child; D002881:Chromosomes, Human, Pair 12; D002891:Chromosomes, Human, Pair 21; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D015342:DNA Probes; D005260:Female; D050939:Gene Fusion; D006801:Humans; D008297:Male; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics; D011379:Prognosis; D050783:Proto-Oncogene Proteins c-ets / Q000235:genetics; D012097:Repressor Proteins / Q000235:genetics; D014178:Translocation, Genetic; D000097764:ETS Translocation Variant 6 Protein
chemical_list: D050676:Core Binding Factor Alpha 2 Subunit; D015342:DNA Probes; D050783:Proto-Oncogene Proteins c-ets; D012097:Repressor Proteins; D000097764:ETS Translocation Variant 6 Protein; C493728:RUNX1 protein, human
keywords: Molecular combing; leukemia; recurrent chromosomal abnormalities; translocation t(12;21)(p13;q22)