1. Cytogenetic analysis identifies recurrent chromosomal abnormalities in hematological malignancies that are important for diagnosis, classification, risk stratification, and treatment selection. 2. Specific abnormalities seen in cancers include t(9;22) in CML, t(8;21), t(15;17), and others in AML, and t(4;11) and others in ALL. Abnormalities in MDS include -Y, del(11q), and -7. 3. Cytogenetic testing aids in diagnosis, determining prognosis, assessing treatment response over time, and detecting relapse in diseases like CML, AML, MDS, lymphoma, CLL and MM.

1. Cytogenetic Analysis in
Hematological Malignancies
Hwei-Fang Tien, National Taiwan
University Hospital

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. 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. Case Demonstration
Diagnosis

5. BM smears in a patient with
thrombocytopenia and anemia
NTUH, Gene Chromosome Cancer, 1995,12:161

7. Cytogenetic Abnormalities
NTUH, Gene Chromosome Cancer, 1995,12:161
Final dignosis: hepatosplenic Tγ/δ lymphoma

8. Large granular lymphocytosis
Br J Haematol, 1998, 103:1124
Cytogenetic Abnormalities
Diagnosis: NK-cell large granular lymphocyte leukemia
PB smears

9. BM aspirate smears from a patient
with pancytopenia

10. Hypoplastic MDS

11. Name: 林X榮,
46, XY, -7 [20]
Chromosomal abnormality
Diagnosis: hypoplastic MDS
Leukemia, 2008, 22:544

12. Case Demonstration
For Lymphoma Staging

13. BM study for staging in a patients with DLBCL
BM biopsy: no lymphoma involvement
BM smears

15. Same Clonal Chromosomal Abnormalities
in Lymph Node as in Bone Marrow
Lymph node Bone marrow
Lymphoma involvement of BM is confirmed

16. Risk Stratification

17. 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

18. 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

19. MM: Impact of genomic aberrations on OS
Blood. 2007;109:3489

20. Prognostic relevance of chromosome aberrations in CLL
Best Pract Res Clin Haematol. 2007 20:439
17p-
11q-
+12
13q- sole
normal

21. Follow Up the Clinical Course

22. Chronic Myeloid Leukemia, Chronic Phase

23. CML in acute transformation

24. 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

25. 台灣藍鵲（ Formosan Blue Magpie )