title: Translocation t(12;13)(p13;q14) in a patient with imatinib-sensitive MDS/MPD associated with resistance to treatment: review of the literature.
abstract: The category of myelodysplastic syndromes/myeloproliferative diseases (MDS/MPD) is a relatively new group of malignant hematologic diseases developed by the World Health Organization. These hematologic disorders lack the BCR/ABL fusion gene, although they can be associated with chromosomal translocations that involve genes encoding other protein kinases. Imatinib mesylate was recognized as a potent inhibitor of some of those kinases. We present a patient with a previously treated acute myeloid leukemia, who, after a 9-year-long remission, developed an MDS/MPD with normal karyotype, which initially responded to imatinib mesylate. Translocation t(12;13)(p12;q14) was detected after loss of response to imatinib treatment. Translocation t(12;13) is rare. It has been described in several hematologic malignancies including chronic myelomonocytic leukemia but not in MDS/MPD, previously described as Philadelphia-negative chronic myelogenous leukemia. Moreover, the correlation of this molecular abnormality with loss of efficacy of imatinib is unique in the literature.
authors.affiliation: First Department of Internal Medicine, Laikon General Hospital, National and Kapodistrian University of Athens, Greece. pandiamantopoulos@gmail.com
authors.forename: Panagiotis T
authors.initials: PT
authors.lastname: Diamantopoulos
authors.forename: Anastasia
authors.initials: A
authors.lastname: Athanasiadou
authors.forename: Evangelos
authors.initials: E
authors.lastname: Papakostas
authors.forename: Nikolaos
authors.initials: N
authors.lastname: Gratsias
authors.forename: Georgios
authors.initials: G
authors.lastname: Georgiou
authors.forename: Marina
authors.initials: M
authors.lastname: Mantzourani
authors.forename: Georgios
authors.initials: G
authors.lastname: Andreopoulos
authors.forename: Panagiotis
authors.initials: P
authors.lastname: Panagiotidis
authors.forename: Athanasios
authors.initials: A
authors.lastname: Aessopos
authors.forename: John
authors.initials: J
authors.lastname: Meletis
authors.forename: Nora
authors.initials: N
authors.lastname: Viniou
mesh_terms: D000970:Antineoplastic Agents / Q000627:therapeutic use; D001549:Benzamides; D019008:Drug Resistance, Neoplasm; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D000068877:Imatinib Mesylate; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000188:drug therapy / Q000235:genetics*; D009196:Myeloproliferative Disorders / Q000188:drug therapy / Q000235:genetics*; D010879:Piperazines / Q000627:therapeutic use*; D047428:Protein Kinase Inhibitors / Q000627:therapeutic use*; D011743:Pyrimidines / Q000627:therapeutic use*; D014178:Translocation, Genetic
chemical_list: D000970:Antineoplastic Agents; D001549:Benzamides; D010879:Piperazines; D047428:Protein Kinase Inhibitors; D011743:Pyrimidines; D000068877:Imatinib Mesylate; D016044:Fusion Proteins, bcr-abl