Cytogenetic complexity in chronic lymphocytic leukemia: definitions, associations, and clinical impact


Por: Baliakas, P, Jeromin, S, Iskas, M, Puiggros, A, Plevova, K, Nguyen-Khac, F, Davis, Z, Rigolin, GM, Visentin, A, Xochelli, A, Delgado, J, Baran-Marszak, F, Stalika, E, Abrisqueta, P, Durechova, K, Papaioannou, G, Eclache, V, Dimou, M, Iliakis, T, Collado, R, Doubek, M, Calasanz, MJ, Ruiz-Xiville, N, Moreno, C, Jarosova, M, Leeksma, AC, Panayiotidis, P, Podgornik, H, Cymbalista, F, Anagnostopoulos, A, Trentin, L, Stavroyianni, N, Davi, F, Ghia, P, Kater, AP, Cuneo, A, Pospisilova, S, Espinet, B, Athanasiadou, A, Oscier, D, Haferlach, C, Stamatopoulos, K, ERIC European Res Initiative CLL

Publicada: 14 mar 2019
Resumen:
Recent evidence suggests that complex karyotype (CK) defined by the presence of >= 3 chromosomal aberrations (structural and/or numerical) identified by using chromosome-banding analysis (CBA) may be relevant for treatment decision-making in chronic lymphocytic leukemia (CLL). However, many challenges toward the routine clinical application of CBA remain. In a retrospective study of 5290 patients with available CBA data, we explored both clinicobiological associations and the clinical impact of CK in CLL. We found that patients with >= 5 abnormalities, defined as high-CK, exhibit uniformly dismal clinical outcomes, independently of clinical stage, TP53 aberrations (deletion of chromosome 17p and/or TP53 mutations [TP53abs]), and the expression of somatically hypermutated (M-CLL) or unmutated immunoglobulin heavy variable genes. Thus, they contrasted with CK cases with 3 or 4 aberrations (low-CK and intermediate-CK, respectively) who followed aggressive disease courses only in the presence of TP53abs. At the other end of the spectrum, patients with CK and 112,119 displayed an exceptionally indolent profile. Building upon CK, TP53abs, and immunoglobulin heavy variable gene somatic hyper-mutation status, we propose a novel hierarchical model in which patients with high-CK exhibit the worst prognosis, whereas those with mutated CLL lacking CK or TP53abs, as well as CK with 112,119, show the longest overall survival. Thus, CK should not be axiomatically considered unfavorable in CLL, representing a heterogeneous group with variable clinical behavior. High-CK with >= 5 chromosomal aberrations emerges as prognostically adverse, independent of other biomarkers. Prospective clinical validation is warranted before ultimately incorporating high-CK in risk stratification of CLL.

Filiaciones:
Baliakas, P:
 Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

Jeromin, S:
 Munich Leukemia Lab, Munich, Germany

Iskas, M:
 G Papanicolaou Hosp, Dept Hematol, Thessaloniki, Greece

 G Papanicolaou Hosp, HCT Unit, Thessaloniki, Greece

Puiggros, A:
 Hosp del Mar, Serv Patol, Lab Citogenet Mol, Barcelona, Spain

 Inst Hosp del Mar Invest Med IMIM, Programa Recerca Canc, Grp Recerca Translac Neoplasies Hematol, Barcelona, Spain

Plevova, K:
 Masaryk Univ, Cent European Inst Technol CEITEC, Brno, Czech Republic

 Univ Hosp Brno, Dept Internal Med Hematol & Oncol, Brno, Czech Republic

 Masaryk Univ, Fac Med, Brno, Czech Republic

Nguyen-Khac, F:
 Hematol Dept, Paris, France

 Sorbonne Univ, Hop Pitie Salpetriere, INSERM, U1138, Paris, France

Davis, Z:
 Royal Bournemouth Hosp, Dept Haematol, Bournemouth, Dorset, England

Rigolin, GM:
 St Anna Univ Hosp, Hematol Sect, Ferrara, Italy

Visentin, A:
 Univ Padua, Dept Med, Hematol Div, Padua, Italy

Xochelli, A:
 Ctr Res & Technol Hellas, Inst Appl Biosci, Thessaloniki 57001, Greece

Delgado, J:
 Univ Barcelona, Hosp Clin, Dept Hematol, Inst Invest Biomed August Pi & Sunyer, Barcelona, Spain

Baran-Marszak, F:
 Hop Avicenne, Assistance Publ Hop Paris, Lab Hematol, Paris, France

Stalika, E:
 Ctr Res & Technol Hellas, Inst Appl Biosci, Thessaloniki 57001, Greece

Abrisqueta, P:
 Hosp Valle De Hebron, Serv Hematol, Barcelona, Spain

Durechova, K:
 Univ Hosp Brno, Dept Internal Med Hematol & Oncol, Brno, Czech Republic

 Masaryk Univ, Fac Med, Brno, Czech Republic

Papaioannou, G:
 G Papanicolaou Hosp, Dept Hematol, Thessaloniki, Greece

 G Papanicolaou Hosp, HCT Unit, Thessaloniki, Greece

Eclache, V:
 Hop Avicenne, Assistance Publ Hop Paris, Lab Hematol, Paris, France

Dimou, M:
 Univ Athens, Laikon Univ Hosp, Dept Propedeut Internal Med 1, Hematol Sect, Athens, Greece

Iliakis, T:
 Univ Athens, Laikon Univ Hosp, Dept Propedeut Internal Med 1, Hematol Sect, Athens, Greece

Collado, R:
 Consorcio Hosp Gen Univ, Serv Hematol, Valencia, Spain

Doubek, M:
 Masaryk Univ, Cent European Inst Technol CEITEC, Brno, Czech Republic

 Univ Hosp Brno, Dept Internal Med Hematol & Oncol, Brno, Czech Republic

 Masaryk Univ, Fac Med, Brno, Czech Republic

Calasanz, MJ:
 Univ Navarra, Dept Genet, Serv Genet Citogenet, Pamplona, Spain

Ruiz-Xiville, N:
 Univ Autonoma Barcelona, Inst Recerca Leucemia Josep Carreras IJC, ICO Hosp Germans Trias & Pujol, Serv Lab Hematol, Badalona, Spain

Moreno, C:
 Hosp Univ Santa Creu & St Pau, Serv Hematol, Barcelona, Spain

Jarosova, M:
 Masaryk Univ, Cent European Inst Technol CEITEC, Brno, Czech Republic

 Univ Hosp Brno, Dept Internal Med Hematol & Oncol, Brno, Czech Republic

 Masaryk Univ, Fac Med, Brno, Czech Republic

Leeksma, AC:
 Univ Amsterdam, Acad Med Ctr Amsterdam, Dept Hematol & Lymphoma, Amsterdam, Netherlands

 Univ Amsterdam, Acad Med Ctr Amsterdam, Myeloma Ctr Amsterdam, Amsterdam, Netherlands

 Canc Ctr Amsterdam, Dept Expt Immunol, Amsterdam, Netherlands

 Infect & Immun Inst Amsterdam, Amsterdam, Netherlands

Panayiotidis, P:
 Univ Athens, Laikon Univ Hosp, Dept Propedeut Internal Med 1, Hematol Sect, Athens, Greece

Podgornik, H:
 Univ Med Ctr Ljubljana, Dept Hematol, Ljubljana, Slovenia

Cymbalista, F:
 Hop Avicenne, Assistance Publ Hop Paris, Lab Hematol, Paris, France

Anagnostopoulos, A:
 G Papanicolaou Hosp, Dept Hematol, Thessaloniki, Greece

 G Papanicolaou Hosp, HCT Unit, Thessaloniki, Greece

Trentin, L:
 Univ Padua, Dept Med, Hematol Div, Padua, Italy

Stavroyianni, N:
 G Papanicolaou Hosp, Dept Hematol, Thessaloniki, Greece

 G Papanicolaou Hosp, HCT Unit, Thessaloniki, Greece

Davi, F:
 Hematol Dept, Paris, France

 Sorbonne Univ, Hop Pitie Salpetriere, INSERM, U1138, Paris, France

Ghia, P:
 IRCCS San Raffaele Sci Inst, Div Expt Oncol, Strateg Res Program CLL, Milan, Italy

 Univ Vita Salute San Raffaele, Milan, Italy

Kater, AP:
 Univ Amsterdam, Acad Med Ctr Amsterdam, Dept Hematol & Lymphoma, Amsterdam, Netherlands

 Univ Amsterdam, Acad Med Ctr Amsterdam, Myeloma Ctr Amsterdam, Amsterdam, Netherlands

 Canc Ctr Amsterdam, Dept Expt Immunol, Amsterdam, Netherlands

 Infect & Immun Inst Amsterdam, Amsterdam, Netherlands

Cuneo, A:
 St Anna Univ Hosp, Hematol Sect, Ferrara, Italy

Pospisilova, S:
 Masaryk Univ, Cent European Inst Technol CEITEC, Brno, Czech Republic

 Univ Hosp Brno, Dept Internal Med Hematol & Oncol, Brno, Czech Republic

 Masaryk Univ, Fac Med, Brno, Czech Republic

Espinet, B:
 Hosp del Mar, Serv Patol, Lab Citogenet Mol, Barcelona, Spain

 Inst Hosp del Mar Invest Med IMIM, Programa Recerca Canc, Grp Recerca Translac Neoplasies Hematol, Barcelona, Spain

Athanasiadou, A:
 G Papanicolaou Hosp, Dept Hematol, Thessaloniki, Greece

 G Papanicolaou Hosp, HCT Unit, Thessaloniki, Greece

Oscier, D:
 Royal Bournemouth Hosp, Dept Haematol, Bournemouth, Dorset, England

Haferlach, C:
 Munich Leukemia Lab, Munich, Germany

Stamatopoulos, K:
 Uppsala Univ, Sci Life Lab, Dept Immunol Genet & Pathol, Uppsala, Sweden

 Ctr Res & Technol Hellas, Inst Appl Biosci, Thessaloniki 57001, Greece
ISSN: 00064971





BLOOD
Editorial
AMER SOC HEMATOLOGY, 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA, Estados Unidos America
Tipo de documento: Article
Volumen: 133 Número: 11
Páginas: 1205-1216
WOS Id: 000461508300007
ID de PubMed: 30602617
imagen Green Published, Bronze

MÉTRICAS