title: Acute myelogenous leukemia with the t(3;12)(q26;p13) translocation: case report and review of the literature.
abstract: Translocations involving the EVI1/MDS1 gene at 3q26 and the TEL gene at 12p13 are comparatively common in acute leukemia, but a translocation between the two genes has been reported only in a handful of cases. We report an additional case of acute myelogenous leukemia (AML) preceded by a myelodysplastic syndrome (MDS) with the translocation t(3;12)(q26;p13) in a 36-year-old woman. The translocation was present early in the disease and long before the MDS progressed to AML 3 years after diagnosis. At the time of progression to AML, an additional chromosomal abnormality, a monosomy 22, was discovered. The patient was treated with the protocol MAQ, which comprised mitoxantrone, aracytine, and quinine, as her blasts expressed the p-glycoprotein, but she failed to obtain remission. A second treatment with the same protocol resulted in only minimal response. The patient was treated again with high-dose Ara-C and idarubicine in an attempt to achieve a response before allogeneic unrelated transplantation, but she did not respond to the treatment and died shortly thereafter. A review of the literature revealed 12 other cases of the t(3;12)(q26;p13) translocation. Characteristics of those cases are reviewed in this article.
authors.affiliation: Service d'Hématologie, Institut Gustave-Roussy, Villejuif, France. ivoutsadakis@yahoo.com
authors.forename: Ioannis A
authors.initials: IA
authors.lastname: Voutsadakis
authors.forename: Natacha
authors.initials: N
authors.lastname: Maillard
mesh_terms: D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000008:administration & dosage; D002471:Cell Transformation, Neoplastic / Q000235:genetics; D002881:Chromosomes, Human, Pair 12; D002892:Chromosomes, Human, Pair 22; D002893:Chromosomes, Human, Pair 3; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000188:drug therapy / Q000235:genetics*; D009006:Monosomy; D009190:Myelodysplastic Syndromes / Q000473:pathology; D011247:Pregnancy; D016879:Salvage Therapy; D014178:Translocation, Genetic; D017211:Treatment Failure