Specimen Container Information
| Specimen Container | SST (Serum Separating Tube) |
|---|---|
| Specimen Type | – |
| Sample collection amount | 1 |
|---|---|
| Unit | – |
Clinical significance
Clinical significance
The Philadelphia chromosome represents chromosome 22, where a reciprocal exchange of segments with chromosome 9 occurs as a result of the translocation t(9;22)(34;q11.2). Such a translocation leads to the synthesis of a fusion protein that combines the bcr and abl regions. Typically, the fusion gene is manifested as a combination of b2a2 or b3a2.
The resulting BCR/ABL1 (breakpoint cluster region/c-abl oncogene1) rearrangements are found in approximately 90% of Chronic Myeloid Leukemia (CML) cases, around 20% of adults with Acute Lymphoblastic Leukemia (ALL) with the usual FAB A2 phenotype. In children, this occurs in 6% of cases. Additionally, it can be detected in very rare instances of Acute Myeloid Leukemia (AML). Particularly, in 15% of CML cases, there is a partial deletion of the 3′ BCR and/or 5′ ABL1 genes of the long arm of chromosome 9. This is associated with a poor prognosis, but traditional cytogenetic studies may not always detect such small losses, so FISH analysis of the BCR/ABL rearrangement serves as a useful confirmation method. Furthermore, about 5-8% of patients have cryptic translocations, which also require confirmation through FISH analysis. Additional cytogenetic anomalies may include i(17), +8, +19, +17, +21, -Y, -7, -17, t(3;21)(q26;q22), and so on.
Precaoutions
Specimen Collection Instructions
● Collection Method: Collect bone marrow in a sterile manner, mix it well to prevent coagulation, and transport it immediately to the laboratory. In unavoidable circumstances, maintain refrigeration during transportation.
● When requesting the test, provide sufficient clinical information, the purpose of the request, and previous results along with the test request form and the genetic test consent form.
Related diseases
Related diseases
Chronic myeloid leukemia (CML) Acute lymphoid leukemia (ALL)
Acute myeloid leukemia (AML)
