Refining the Diagnosis and Prognostic Categorization of Acute Myeloid Leukemia Patients with an Integrated Use of Cytogenetic and Molecular Studies

被引:1
作者
Costa, Dolors [1 ]
Vidal, Anna [1 ]
Carrio, Ana [1 ]
Munoz, Concha [1 ]
Arias, Amparo [1 ]
Gomez, Candida [1 ]
Berneaga, Daniela [1 ]
Colomer, Dolors [1 ]
Rozman, Maria [1 ]
Pratcorona, Marta [2 ]
Torrebadell, Montserrat [2 ]
Diaz-Beya, Marina [2 ]
Esteve, Jordi [2 ]
Campo, Elias [1 ]
机构
[1] Hosp Clin Barcelona, Hematopathol Sect, ES-08036 Barcelona, Catalonia, Spain
[2] Hosp Clin Barcelona, Dept Hematol, Inst Invest Biomed August Pi I Sunyer, ES-08036 Barcelona, Catalonia, Spain
关键词
Acute myeloid leukemia; Chromosomal abnormalities; FLT3-ITD; Fluorescence in situ hybridization; Karyotype; Nucleophosmin gene; INTERNAL TANDEM DUPLICATION; ACUTE MYELOGENOUS LEUKEMIA; FUSION GENE TRANSCRIPTS; YOUNGER ADULTS; POOR-PROGNOSIS; RESIDUAL-DISEASE; FLT3; MUTATIONS; AML; CANCER; NUCLEOPHOSMIN;
D O I
10.1159/000343616
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Significant progress in the understanding of the genetic basis of acute myeloid leukemia (AML) has been made during the last 30 years. The aim of the present study was to assess whether the detection of recurrent gene rearrangements by fluorescent in situ hybridization (FISH) studies and NPM1 and FLT3 gene mutations by molecular studies added clinically relevant information to the karyotype in 113 AML patients. Thus, FISH and molecular studies were found to add new information in 22 and 55% of the patients, respectively, particularly in cases with normal karyotype (NK) or when a cytogenetic analysis failed. Patients with NK changed their genetic risk group to favorable in 27 and 29% of cases using FISH and molecular biology studies, respectively. Our results demonstrate that molecular biology and FISH studies provide relevant information in AML and should be routinely performed. Copyright (C) 2012 S. Karger AG, Basel
引用
收藏
页码:65 / 71
页数:7
相关论文
共 34 条
  • [21] Kottaridis PD, 2003, BRIT J HAEMATOL, V122, P523
  • [22] FLT3 tyrosine kinase domain mutations are biologically distinct from and have a significantly more favorable prognosis than FLT3 internal tandem duplications in patients with acute myeloid leukemia
    Mead, Adam J.
    Linch, David C.
    Hills, Robert K.
    Wheatley, Keith
    Burnett, Alan K.
    Gale, Rosemary E.
    [J]. BLOOD, 2007, 110 (04) : 1262 - 1270
  • [23] Clinical relevance of mutations and gene-expression changes in adult acute myeloid leukemia with normal cytogenetics:: are we ready for a prognostically prioritized molecular classification?
    Mrozek, Krzysztof
    Marcucci, Guido
    Paschka, Peter
    Whitman, Susan P.
    Bloomfield, Clara D.
    [J]. BLOOD, 2007, 109 (02) : 431 - 448
  • [24] Nakao M, 1996, LEUKEMIA, V10, P1911
  • [25] Cooperating gene mutations in acute myeloid leukemia: a review of the literature
    Renneville, A.
    Roumier, C.
    Biggio, V.
    Nibourel, O.
    Boissel, N.
    Fenaux, P.
    Preudhomme, C.
    [J]. LEUKEMIA, 2008, 22 (05) : 915 - 931
  • [26] Molecular characterization of AML: A significant advance or just another prognostic factor?
    Schiffer, Charles A.
    [J]. BEST PRACTICE & RESEARCH CLINICAL HAEMATOLOGY, 2008, 21 (04) : 621 - 628
  • [27] Shaffer L.G., 2009, ISCN 2009: An International System for Human Cytogenetic Nomenclature (2009): Recommendations of the International Standing Committee on Human Cytogenetic Nomenclature
  • [28] A retrospective study of 69 patients with t(6;9)(p23;q34) AML emphasizes the need for a prospective, multicenter initiative for rare 'poor prognosis' myeloid malignancies
    Slovak, M. L.
    Gundacker, H.
    Bloomfield, C. D.
    Dewald, G.
    Appelbaum, F. R.
    Larson, R. A.
    Tallman, M. S.
    Bennett, J. M.
    Stirewalt, D. L.
    Meshinchi, S.
    Willman, C. L.
    Ravindranath, Y.
    Alonzo, T. A.
    Carroll, A. J.
    Raimondi, S. C.
    Heerema, N. A.
    [J]. LEUKEMIA, 2006, 20 (07) : 1295 - 1297
  • [29] Independent prognostic variables in acute myeloid leukaemia
    Smith, Matthew L.
    Hills, Robert K.
    Grimwade, David
    [J]. BLOOD REVIEWS, 2011, 25 (01) : 39 - 51
  • [30] Swerdlow SH., 2008, WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues, V2