Cytogenetic analysis in Hematological Malignancies

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Cytogenetic analysis in Hematological Malignancies

  1. 1. Cytogenetic Analysis in Hematological Malignancies Hwei-Fang Tien, National Taiwan University Hospital
  2. 2. 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)
  3. 3. 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
  4. 4. Case Demonstration Diagnosis
  5. 5. BM smears in a patient with thrombocytopenia and anemia NTUH, Gene Chromosome Cancer, 1995,12:161
  6. 6. Cytogenetic Abnormalities NTUH, Gene Chromosome Cancer, 1995,12:161 Final dignosis: hepatosplenic Tγ/δ lymphoma
  7. 7. Large granular lymphocytosis Br J Haematol, 1998, 103:1124 Cytogenetic Abnormalities Diagnosis: NK-cell large granular lymphocyte leukemia PB smears
  8. 8. BM aspirate smears from a patient with pancytopenia
  9. 9. Hypoplastic MDS
  10. 10. Name: 林X榮, 46, XY, -7 [20] Chromosomal abnormality Diagnosis: hypoplastic MDS Leukemia, 2008, 22:544
  11. 11. Case Demonstration For Lymphoma Staging
  12. 12. BM study for staging in a patients with DLBCL BM biopsy: no lymphoma involvement BM smears
  13. 13. Same Clonal Chromosomal Abnormalities in Lymph Node as in Bone Marrow Lymph node Bone marrow Lymphoma involvement of BM is confirmed
  14. 14. Risk Stratification
  15. 15. 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
  16. 16. 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
  17. 17. MM: Impact of genomic aberrations on OS Blood. 2007;109:3489
  18. 18. Prognostic relevance of chromosome aberrations in CLL Best Pract Res Clin Haematol. 2007 20:439 17p- 11q- +12 13q- sole normal
  19. 19. Follow Up the Clinical Course
  20. 20. Chronic Myeloid Leukemia, Chronic Phase
  21. 21. CML in acute transformation
  22. 22. 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
  23. 23. 台灣藍鵲( Formosan Blue Magpie )

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