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Importance of assessing cytogenetic and molecular risk factors in acute myeloid leukemia therapy.
Coles, E C; Colita, A; Momanu, R; Berbec, N; Ivanescu, A M; Oprea, M; Jardan, D; Jardan, C; Arghir, A; Coriu, D; Lupu, A R.
Afiliación
  • Coles EC; Hematology Department, Coltea Clinical Hospital, Bucharest.
  • Colita A; "Carol Davila" University of Medicine and Pharmacy, Bucharest.
  • Momanu R; Hematology Department, Coltea Clinical Hospital, Bucharest.
  • Berbec N; "Carol Davila" University of Medicine and Pharmacy, Bucharest.
  • Ivanescu AM; Roche Romania, Bucharest.
  • Oprea M; Hematology Department, Coltea Clinical Hospital, Bucharest.
  • Jardan D; "Carol Davila" University of Medicine and Pharmacy, Bucharest.
  • Jardan C; Hematology Department, Coltea Clinical Hospital, Bucharest.
  • Arghir A; Hematology Department, Coltea Clinical Hospital, Bucharest.
  • Coriu D; Fundeni Clinical Institute Bucharest.
  • Lupu AR; Fundeni Clinical Institute Bucharest.
J Med Life ; 5(Spec Issue): 36-43, 2012.
Article en En | MEDLINE | ID: mdl-31803284
Acute myeloid leukemia (AML) is a heterogeneous disease in clinical presentation, outcome and therapeutic response. Cytogenetic and molecular characteristics are important prognostic indicators allowing the identification of distinct subtypes of AML, prognostic stratification and risk-adapted treatment. We present our experience during 5 years, in which we treated 245 patients with AML, of which we could genetically characterize 48 cases (26 females, 22 males) with a median age of 52 years. Cytogenetic analysis was performed by GTG banding on cultures of marrow cells treated with colcemid. Molecular analysis used RT-PCR performed on ABI 9700 platform in order to identify the following fusion genes: E2A-PBX1, TEL-AML1, AML1-ETO, PML-RARα, MLL-AF4, CBFC-MYH11, BCR-ABL, SIL-TAL, and MLL-AF9as well as mutations in Flt3, NPM1, WT1 genes. Fourteen patients were older than 60 years. In 12 we performed cytogenetic analysis showing 5 cases with complex karyotype, 2 normal karyotypes, 1 case of del(21), del (9), 11q- and t(3;15) respectively as well as 2 unevaluable karyotypes. These anomalies were associated with a high incidence of secondary AMLs (10/14) and with a low remission (CR) rate (5/14). Out of the 35 patients younger than 60 years, 25 were evaluated by cytogenetics showing a high incidence of favorable cytogenetic changes: 6 anomalies of chromosome 16 (5 inv (16) and 1 t (16; 16)), 3 t (15; 17), 3 cases of t (8; 21) of which 2 with additional abnormalities, 7 normal karyotypes and 1 case of 7q-, -y,-3 and respectively -8 associated with +18. In 25 cases molecular analysis was performed showing alterations in 21 patients: 6 cases with AML/ETO, 3 PML/RAR, 7 Flt3 mutations (2 associated with NPM1 mutation) as well as 1 case of isolated mutation of NPM1 and respectively WT1. CR rate was of 28/35. All cases with t (15; 17) and PML/RAR as well all cases with t (8; 21) and/or AML/ETO achieved CR. Out of the 7 cases with Flt3 mutations only 4 achieved CR including the 2 cases with associated NPM1 mutations. In our experience, genetic characteristics correlate with other prognostic markers such as age and secondary leukemia; "favorable" genetic anomalies were associated with a high CR rate; association of t (8; 21) with additional abnormalities did not influence CR rate.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: J Med Life Asunto de la revista: MEDICINA Año: 2012 Tipo del documento: Article Pais de publicación: Rumanía

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Etiology_studies / Prognostic_studies Idioma: En Revista: J Med Life Asunto de la revista: MEDICINA Año: 2012 Tipo del documento: Article Pais de publicación: Rumanía