Affiliations: [a] Laboratoire d'Hématologie, CHU de Hautepierre, Strasbourg, France | [b] Département de Génétique Médicale, AP-HM La Timone, Marseille, France | [c] Département d'Hématologie Pédiatrique, AP-HM La Timone, Marseille, France | [d] Inserm UMR_S 910, Génétique Médicale et Génomique Fonctionnelle, Faculté de Médecine de Marseille, Université Aix-Marseille, France
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.
