RESUMO
A 43-year-old male developed acute myelogenous leukemia (AML, M5b) with an acquired Robertsonian 13;15 translocation. He did not achieve complete remission after sequential intensive induction chemotherapy and he died 13 months later. We reviewed 7 patients with this translocation reported in the literature. Acquired Robertsonian translocations are rare, but could represent an important event in the tumorigenesis of hematologic malignancies.
Assuntos
Cromossomos Humanos Par 13 , Cromossomos Humanos Par 15 , Leucemia Mieloide Aguda/genética , Translocação Genética , Adulto , Humanos , MasculinoRESUMO
The efficacy of all-trans retinoic acid (ATRA) in patients with acute promyelocytic leukemia (APL) has been well documented. However, ATRA is not as effective against other types of acute myelogenous leukemia (AML) or myelodysplastic syndromes. We present a patient with AML (FAB: M2) associated with a t(2;17;4)(p13;q21;p16) chromosomal defect in which the 17q21 breakpoint was not within the retinoic acid receptor alpha locus which is typically rearranged in APL. This patient was successfully treated with ATRA and granulocyte colony-stimulating factor and improvement of hematological parameters lasted for 19 months without the use of cytotoxic agents.
Assuntos
Antineoplásicos/uso terapêutico , Aberrações Cromossômicas/genética , Cromossomos Humanos Par 17 , Cromossomos Humanos Par 2 , Cromossomos Humanos Par 4 , Leucemia Mieloide Aguda/genética , Tretinoína/uso terapêutico , Cromossomos Humanos Par 17/genética , Cromossomos Humanos Par 2/genética , Cromossomos Humanos Par 4/genética , Quimioterapia Combinada , Feminino , Seguimentos , Fator Estimulador de Colônias de Granulócitos/uso terapêutico , Humanos , Hibridização in Situ Fluorescente , Cariotipagem , Leucemia Mieloide Aguda/sangue , Leucemia Mieloide Aguda/tratamento farmacológico , Contagem de Leucócitos , Pessoa de Meia-Idade , Receptores do Ácido Retinoico/genética , Receptor alfa de Ácido Retinoico , Reação em Cadeia da Polimerase Via Transcriptase ReversaRESUMO
A 64-year-old male was admitted in September 1989 with complaints of fever and muscular weakness in the extremities. A peripheral blood examination on admission revealed WBC 10,300/microliters (monocytes 32%), RBC 195 x 10(4)/microliters, Hb 7.9 g/dl, Plt 12.8 x 10(4)/microliters with trilineage dysplasia. Bone marrow biopsy was normoplastic marrow with 25.7% of monocytes including immature blasts. Cytochemical analysis of the monocytes showed positive for peroxidase and dual esterase staining. Chromosomal analysis of peripheral blood revealed 46, XY, -7, +der(1) t(1;7)(p11;p11). A diagnosis of chronic myelomonocytic leukemia was made. Hemostatic studies revealed cryofibrinogenemia, marked platelet aggregation on blood smear, hyperfibrinogenemia and a marked increase in maximal amplitude of thrombelastogram. Treatment with prednisolone and VP16, resulted in a reduction of peripheral monocytes and a disappearance of cryofibrinogen, marked platelet aggregation and a decrease in muscular weakness. Nine months after diagnosis he died of DIC, pneumonia, lung abscess and sepsis.