An isochromosome of the long arm of chromosome 17, i(17q), is the most frequent genetic abnormality observed during the disease progression of Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML). The breakpoints are located in the short arm of chromosome 17 within the Smith-Magenis critical region at 17p11. In neuroblastoma and other hematologic malignancies, amplification of 17q is a significant predictive factor for adverse outcome.
Isochromosome 17q, or i(17q), is ocurring in primitive neuroectodermal tumor/medulloblastoma (50%), chronic myeloid leukemia (CML), acute myeloid leukemia (AML), and myelodysplastic syndrome (MDS).
Clinical Applications
- Chronic Myelogenous Leukemia (CML)
- Myelodysplastic Syndrome (MDS)
- Acute Lymphoblastic Leukemia (ALL)