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
  • [1] [Anonymous], 2009, CANC CYTOGENETICS CH
  • [2] Prognostic relevance of FLT3-TKD mutations in AML:: the combination matters -: an analysis of 3082 patients
    Bacher, Ulrike
    Haferlach, Claudia
    Kern, Wolfgang
    Haferlach, Torsten
    Schnittger, Susanne
    [J]. BLOOD, 2008, 111 (05) : 2527 - 2537
  • [3] BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics:: a Cancer and Leukemia Group B Study
    Baldus, CD
    Tanner, SM
    Ruppert, AS
    Whitman, SP
    Archer, KJ
    Marcucci, G
    Caligiuri, MA
    Carroll, AJ
    Vardiman, JW
    Powell, BL
    Allen, SL
    Moore, JO
    Larson, RA
    Kolitz, JE
    de la Chapelle, A
    Bloomfield, CD
    [J]. BLOOD, 2003, 102 (05) : 1613 - 1618
  • [4] Clinical outcome of de novo acute myeloid leukaemia patients with normal cytogenetics is affected by molecular genetic alterations:: a concise review
    Baldus, Claudia D.
    Mrozek, Krzysztof
    Marcucci, Guido
    Bloomfield, Clara D.
    [J]. BRITISH JOURNAL OF HAEMATOLOGY, 2007, 137 (05) : 387 - 400
  • [5] Prevalence, clinical profile, and prognosis of NPM mutations in AML with normal karyotype
    Boissel, N
    Renneville, A
    Biggio, V
    Philippe, N
    Thomas, X
    Cayuela, JM
    Terre, C
    Tigaud, I
    Castaigne, S
    Raffoux, E
    De Botton, S
    Fenaux, P
    Dombret, H
    Preudhomme, C
    [J]. BLOOD, 2005, 106 (10) : 3618 - 3620
  • [6] Monosomal karyotype in acute myeloid leukemia:: A better indicator of poor prognosis than a complex karyotype
    Breems, Dimitri A.
    Van Putten, Wim L. J.
    De Greef, Georgine E.
    Van Zelderen-Bhola, Shama L.
    Gerssen-Schoorl, Klasien B. J.
    Mellink, Clemens H. M.
    Nieuwint, Aggie
    Jotterand, Martine
    Hagemeijer, Anne
    Beverloo, H. Berna
    Lowenberg, Bob
    [J]. JOURNAL OF CLINICAL ONCOLOGY, 2008, 26 (29) : 4791 - 4797
  • [7] Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet
    Doehner, Hartmut
    Estey, Elihu H.
    Amadori, Sergio
    Appelbaum, Frederick R.
    Buechner, Thomas
    Burnett, Alan K.
    Dombret, Herve
    Fenaux, Pierre
    Grimwade, David
    Larson, Richard A.
    Lo-Coco, Francesco
    Naoe, Tomoki
    Niederwieser, Dietger
    Ossenkoppele, Gert J.
    Sanz, Miguel A.
    Sierra, Jorge
    Tallman, Martin S.
    Loewenberg, Bob
    Bloomfield, Clara D.
    [J]. BLOOD, 2010, 115 (03) : 453 - 474
  • [8] Molecular characterization of acute myeloid leukemia
    Doehner, Konstanze
    Doehner, Hartmut
    [J]. HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2008, 93 (07): : 976 - 982
  • [9] Mutant nucleophosmin (NPM1) predicts favorable prognosis in younger adults with acute myeloid leukemia and normal cytogenetics:: interaction with other gene mutations
    Döhner, K
    Schlenk, RF
    Habdank, M
    Scholl, C
    Rücker, FG
    Corbacioglu, A
    Bullinger, L
    Fröhling, S
    Döhner, H
    [J]. BLOOD, 2005, 106 (12) : 3740 - 3746
  • [10] Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype.
    Falini, B
    Mecucci, C
    Tiacci, E
    Alcalay, M
    Rosati, R
    Pasqualucci, L
    La Starza, R
    Diverio, D
    Colombo, E
    Santucci, A
    Bigerna, B
    Pacini, R
    Pucciarini, A
    Liso, A
    Vignetti, M
    Fazi, P
    Meani, N
    Pettirossi, V
    Saglio, G
    Mandelli, F
    Lo-Coco, F
    Pelicci, P
    Martelli, MF
    [J]. NEW ENGLAND JOURNAL OF MEDICINE, 2005, 352 (03) : 254 - 266