Cytogenetic analysis in Hematological Malignancies
description
Transcript of Cytogenetic analysis in Hematological Malignancies
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, 1995,12:161Final 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 MDSLeukemia, 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-relatedother 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. ofPts
% 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 otherIndependent 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 )