Table 1.
Probes used in our service for patients with malignant hemopathy.
| No. | Probe | Associated hematological malignancies |
|---|---|---|
| 1 | BCR/ABL1 translocation | CML, ALL |
| 2 | AML1/ETO translocation | AML |
| 3 | PML/RARA translocation | AML |
| 4 | IGH/MYC translocation | ALL, Lymphoma |
| 5 | TEL/AML1 translocation | ALL |
| 6 | IGH/CCND1 translocation | CLL, Lymphoma |
| 7 | MLL (KMT2A) breakapart | ALL, AML |
| 8 | E2A breakapart | ALL |
| 9 | CDKN2A breakapart | ALL, AML |
| 10 | Del (7q) Deletion | AML, MDS |
| 11 | Del (20q) Deletion | AML, MDS |
| 12 | P53 Deletion | ALL, AML, CLL, Lymphoma, MDS, MM |
| 13 | ATM Deletion | CLL |
| 14 | Del (5q) Deletion | AML, MDS |
| 15 | 13q14.3 Deletion | CLL, MM |
Table 2.
Results of patients with malignant hemopathy using molecular cytogenetic probes.
| Diagnose | Patients | Positive results | Probes |
|---|---|---|---|
| Chronic Myeloid Leukemia | 123 | 50 (40%) | BCR/ABL1 translocation (50) |
| Chronic Lymphocytic Leukemia | 88 | 49 (55,6%) | P53 deletion (41) P53 deletion + ATM deletion (3) ATM deletion (3) D13S319 deletion (2) |
| Acute Myeloid Leukemia | 44 | 11(25%) | PML/RARa translocation (11) |
| Acute Lymphocytic Leukemia | 15 | 3(20%) | BCR/ABL1 translocation (2) MLL breakapart (1) |
| Myelodysplastic Syndrome | 35 | 7(20%) | 5q deletion, 7q deletion (1) 5q deletion, P53 deletion (1) 5q deletion (1) 7q deletion (1) P53 deletion (3) |
| Multiple myeloma | 17 | 6 (35,2%) | P53 deletion (6) |
| Lymphoma | 8 | 1 (12,5%) | P53 deletion (1) |
| TOTAL | 330 | 127 (38,4%) |
Figure 1.
BCR-ABL/ABL1 translocation, dual fusion probe
Figure 2.
PML/RARa translocation, dual fusion probe