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Cytogenetic analysis in Hematological Malignancies

Cytogenetic analysis in Hematological Malignancies






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    Cytogenetic analysis in Hematological Malignancies Cytogenetic analysis in Hematological Malignancies Presentation Transcript

    • Cytogenetic Analysis in Hematological Malignancies Hwei-Fang Tien, National Taiwan University Hospital
    • Recurrent chromosomal abnormalities in Hematological malignancies Abnormalities important for classification CML t(9;22) AML t(8;21), t(15;17), inv(16), t(9;11), inv(3), t(6;9), t(1;22), -5/5q-, -7/7q- ALL t(4;11), t(1;19), t(v;11q23), t(12;21)* MDS -Y, del(11q); del(5q), del(12p), del(20q); del(7q), +8, +19, i(17q); -7, inv(3) Lymphoma DLBCL t(3q27) Burkitt t(8;14) and variant Follicular t(14;18) Mantle cell t(11;14) Marginal zone t(11;18), t(1;14), t(14;18)
    • Purpose of Cytogenetic Study in Hematological malignancies 1. Diagnosis and classification 2. Risk stratification 3. Selection of proper treatment 4. Follow-up of the response
    • Case Demonstration Diagnosis
    • BM smears in a patient with thrombocytopenia and anemia NTUH, Gene Chromosome Cancer, 1995,12:161
    • Cytogenetic Abnormalities NTUH, Gene Chromosome Cancer, 1995,12:161 Final dignosis: hepatosplenic Tγ/δ lymphoma
    • Large granular lymphocytosis Br J Haematol, 1998, 103:1124 Cytogenetic Abnormalities Diagnosis: NK-cell large granular lymphocyte leukemia PB smears
    • BM aspirate smears from a patient with pancytopenia
    • Hypoplastic MDS
    • Name: 林X榮, 46, XY, -7 [20] Chromosomal abnormality Diagnosis: hypoplastic MDS Leukemia, 2008, 22:544
    • Case Demonstration For Lymphoma Staging
    • BM study for staging in a patients with DLBCL BM biopsy: no lymphoma involvement BM smears
    • Same Clonal Chromosomal Abnormalities in Lymph Node as in Bone Marrow Lymph node Bone marrow Lymphoma involvement of BM is confirmed
    • Risk Stratification
    • Impact of Cytogenetics in AML based on 2008 WHO Classification Medical Research Council , United Kingdom Blood. 2010;116(3):354 , Blood Rev, 2011; 25:39 t(9;22) -7/7q- -5/5q- Inv(3), t(3;3) t(9;11) t(3;5) t(6;9) MDS-related other t(11q23) t(15;17) t(8;21) Inv(16) 5876 patients Normal
    • Cytogenetic Scoring System in MDS (n=2,754) Abnormality Overall survival AML transformation Prognostic Subgroup No. of Pts % Single Double Cplx Median (months) Median (months) Very good 81 2.9 del(11q), -Y ― ― 60.8 NR Good (reference) 1,809 65.7 Normal, del(5q) del(12p), del(20q) Including del(5q) ― 48.6 NR Intermediate 529 19.2 del(7q), +8, i(17q) +19, any other Independent clones Any other ― 26.0 78.0 Poor 148 5.4 Inv(3)/t(3q)/del(3q), -7 Including -7/del(7q) 3 15.8 21.0 Very poor 187 6.8 ― ― > 3 5.9 8.2 Abbreviations: AML, acute myeloid leukemia; NR, not reached. Schanz et al, J Clin Oncol, 2012
    • MM: Impact of genomic aberrations on OS Blood. 2007;109:3489
    • Prognostic relevance of chromosome aberrations in CLL Best Pract Res Clin Haematol. 2007 20:439 17p- 11q- +12 13q- sole normal
    • Follow Up the Clinical Course
    • Chronic Myeloid Leukemia, Chronic Phase
    • CML in acute transformation
    • Indication of Cytogenetic Study • Unknown cause of cytopenia • Fever of unknown origin • WHO classification of AML and ALL • MDS diagnosis, classification (IPSS, IPSS-R) • Lymphoma diagnosis, classification and staging work up • Risk stratification of CLL and MM • Follow-up of treatment response
    • 台灣藍鵲( Formosan Blue Magpie )