title: Molecular characterization and follow-up of five CML patients with new BCR-ABL1 fusion transcripts.
abstract: We report five chronic myeloid leukaemia (CML) patients in whom we identified and characterized undescribed BCR-ABL1 fusion transcripts. We investigated the precise features of the molecular rearrangements and the minimal residual disease follow-up for these five patients. Three resulted from new rearrangements between the BCR and ABL1 sequences (the breakpoints being located within BCR exon 13 in two cases and within BCR exon 18 in one case). The other two cases revealed a complex e8-[ins]-a2 fusion transcript involving a third partner gene, PRDM12 and SPECC1L, respectively. Moreover, single nucleotide polymorphism-array analysis performed in the latter two cases showed copy number alterations shared by the two patients, thus identifying genes that were deleted during rearrangement and suggesting their potential role in CML pathogenesis. Interestingly, we highlight that the prognosis of alterations, such as the presence of an e8a2 transcript or the deletion of various genes, which have been controversial, may be definitively erased by the introduction of tyrosine kinase inhibitors (TKIs).
authors.affiliation: Laboratoire D'hématologie, Centre De Biologie Sud, Hospices Civils De Lyon, Pierre-Bénite, France.
authors.forename: Sarah
authors.initials: S
authors.lastname: Huet
authors.affiliation: Laboratoire D'hématologie, Centre Hospitalo-Universitaire De Bordeaux, Bordeaux, France.
authors.forename: Stéphanie
authors.initials: S
authors.lastname: Dulucq
authors.affiliation: Laboratoire D'hématologie, Centre Hospitalo-Universitaire Régional De Brest, Brest, France.
authors.forename: Aurélie
authors.initials: A
authors.lastname: Chauveau
authors.affiliation: Laboratoire D'hématologie, Institut De Biologie, Centre Hospitalo-Universitaire De Nantes, Nantes, France.
authors.forename: Audrey
authors.initials: A
authors.lastname: Ménard
authors.affiliation: Service De Cancérologie Biologique, Centre Hospitalo-Universitaire De Poitiers, Poitiers, France.
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Chomel
authors.affiliation: Service Clinique d'onco-Hématologie, Centre Hospitalier Départemental Vendée, La-Roche-sur-Yon, France.
authors.forename: Hervé
authors.initials: H
authors.lastname: Maisonneuve
authors.affiliation: Service D'hématologie Clinique, Groupe Hospitalier L'archet, Centre Hospitalo-Universitaire De Nice, Nice, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Legros
authors.affiliation: Service D'hématologie Clinique, Hôpital Fleyriat, Bourg-en-Bresse, France.
authors.forename: Marie-Claire
authors.initials: MC
authors.lastname: Perrin
authors.affiliation: Service D'hématologie Clinique, Centre Hospitalo-Universitaire De Dijon, Dijon, France.
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Ferrant
authors.affiliation: Laboratoire D'hématologie, Hôpital Pasteur, Centre Hospitalo-Universitaire De Nice, Nice, France.
authors.forename: Chimène
authors.initials: C
authors.lastname: Moreilhon
authors.affiliation: Service D'hématologie Stérile, Institut Cancérologie-Hématologie, Centre Hospitalo-Universitaire Régional De Brest, Brest, France.
authors.forename: Marie-Anne
authors.initials: MA
authors.lastname: Couturier
authors.affiliation: Laboratoire D'hématologie, Centre De Biologie Sud, Hospices Civils De Lyon, Pierre-Bénite, France.
authors.forename: Pierre
authors.initials: P
authors.lastname: Sujobert
authors.affiliation: Laboratoire D'hématologie, Centre De Biologie Sud, Hospices Civils De Lyon, Pierre-Bénite, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: Magaud
authors.affiliation: Laboratoire D'hématologie, Centre Hospitalo-Universitaire Régional De Brest, Brest, France.
authors.forename: Valérie
authors.initials: V
authors.lastname: Ugo
authors.affiliation: Laboratoire D'hématologie, Centre De Biologie Sud, Hospices Civils De Lyon, Pierre-Bénite, France.
authors.forename: Kaddour
authors.initials: K
authors.lastname: Chabane
authors.affiliation: Laboratoire D'hématologie, Hôpital Pasteur, Centre Hospitalo-Universitaire De Nice, Nice, France.
authors.forename: Sophie
authors.initials: S
authors.lastname: Raynaud
authors.affiliation: Laboratoire D'hématologie, Centre De Biologie Sud, Hospices Civils De Lyon, Pierre-Bénite, France.
authors.forename: Sandrine
authors.initials: S
authors.lastname: Hayette
mesh_terms: D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics*; D008297:Male; D008875:Middle Aged
chemical_list: D016044:Fusion Proteins, bcr-abl