title: [Chronic myeloid leukemia with variant e19a2 BCR-ABL1 fusion transcript: interest of the molecular identification at diagnosis for minimal residual disease follow-up].
abstract: We report here the case of a sixty-eight-year old woman with chronic myeloid leukemia. Molecular techniques identified the presence of the rare e19a2 BCR-ABL1 transcript. The patient was treated by 1(st) generation tyrosine-kinase inhibitor (TKI) (imatinib). Disease monitoring was performed by cytogenetic analyses and quantification of the BCR-ABL1 transcript. After 3 months, the treatment was modified due to an absence of biological response and poor tolerance. After 21 months with 2nd generation TKIs (nilotinib), the patient was responding optimally to treatment, with a complete cytogenetic response and a major molecular response. This observation emphasizes the importance of determining the chromosomal breakpoints at diagnosis to enable adequate molecular monitoring of residual disease. Careful monitoring of minimal residual disease is important to thoroughly assess the response to treatment, detect resistance and adapt the therapeutic strategy. The kinetics and the depth of the response to TKI also represent major prognostic factors. Molecular monitoring is performed using real-time quantitative PCR, which has to be adapted to each type of transcript. For rare BCR-ABL1 transcripts, an international standardization, as it is developed for conventional transcripts, is lacking. Yet, such a harmonization would be useful to assess in an optimal and large scale way the response to TKI in these patients, and to determine what the best management is.
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Gendron
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Nabila
authors.initials: N
authors.lastname: Belhouachi
authors.affiliation: Service d'hématologie clinique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Véronique
authors.initials: V
authors.lastname: Morel
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Zahia
authors.initials: Z
authors.lastname: Azgui
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Karim
authors.initials: K
authors.lastname: Maloum
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France, Inserm U1138, Centre de recherche des Cordeliers, Paris, France, Université Pierre et Marie Curie, Paris 6, France.
authors.forename: Florence
authors.initials: F
authors.lastname: Nguyen-Khac
authors.affiliation: Laboratoire d'hématologie biologique, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris, France.
authors.forename: Jean-Michel
authors.initials: JM
authors.lastname: Cayuela
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France, Inserm U1138, Centre de recherche des Cordeliers, Paris, France, Université Pierre et Marie Curie, Paris 6, France.
authors.forename: Frédéric
authors.initials: F
authors.lastname: Davi
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France, Inserm U1138, Centre de recherche des Cordeliers, Paris, France, Université Pierre et Marie Curie, Paris 6, France.
authors.forename: Hélène
authors.initials: H
authors.lastname: Merle-Béral
authors.affiliation: Service d'hématologie biologique, Hôpital Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, France, Inserm U1138, Centre de recherche des Cordeliers, Paris, France, Université Pierre et Marie Curie, Paris 6, France.
authors.forename: Elise
authors.initials: E
authors.lastname: Chapiro
mesh_terms: D000368:Aged; D000970:Antineoplastic Agents / Q000627:therapeutic use; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D016044:Fusion Proteins, bcr-abl / Q000032:analysis / Q000235:genetics*; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D000068877:Imatinib Mesylate; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000188:drug therapy / Q000235:genetics*; D018365:Neoplasm, Residual / Q000188:drug therapy; D011505:Protein-Tyrosine Kinases / Q000037:antagonists & inhibitors; D011743:Pyrimidines / Q000627:therapeutic use; D012074:Remission Induction; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D000970:Antineoplastic Agents; C581634:BCR-ABL1 fusion protein, human; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D011505:Protein-Tyrosine Kinases; D016044:Fusion Proteins, bcr-abl; C498826:nilotinib
keywords: BCR-ABL1; chronic myeloid leukemia; e19a2; minimal residual disease; variant transcript