Aneuploidy — oncology-focused definition
Aneuploidy is a chromosomal abnormality characterized by the gain or loss of one or more whole chromosomes, resulting in a chromosome number that is not an exact multiple of the haploid set.
Oncology relevance:
- A hallmark of genomic instability in cancer.
- Arises from errors in mitosis or meiosis (e.g., defective spindle assembly, chromosomal missegregation).
- Common in solid tumors and hematologic malignancies.
Clinical significance (for oncology pharmacists):
- Often associated with tumor aggressiveness, treatment resistance, and poor prognosis.
- Can influence risk stratification and therapy intensity, particularly in leukemias and lymphomas.
- Detected via karyotyping, FISH, or next-generation sequencing.
Examples:
- Hyperdiploidy in acute lymphoblastic leukemia (favorable prognosis in pediatric ALL).
- Hypodiploidy in ALL (poor prognosis).
- Trisomy or monosomy of specific chromosomes in MDS and AML.
Key takeaway:
Aneuploidy reflects chromosomal instability and has important diagnostic, prognostic, and therapeutic implications in oncology practice.
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