Integrated Cytogenetic and FISH Profiling Reveals inv(16) Dominance and Cryptic 11q23 Lesions in AML and ALL: Clinical Significance from a Referral Cohort.

Source: PubMed, NCBI / U.S. National Library of Medicine

Cytogenetic abnormalities play a pivotal role in the diagnosis, classification, risk stratification, and therapeutic decision-making in hematological malignancies. Among these, acute leukemia represents a genetically heterogeneous group in which chromosomal rearrangements and copy number changes significantly influence disease behavior and outcome. The present study describes a comprehensive cytogenetic and fluorescence in situ hybridization (FISH) analysis of 22 patients diagnosed with acute myeloid leukemia (AML), acute lymphoblastic leukemia (ALL), and chronic myeloid leukemia (CML) in blast crisis. Conventional karyotyping and targeted FISH probes were employed to identify recurrent and rare chromosomal abnormalities, with a special emphasis on inv(16) (p13.1q22), MLL rearrangements, and complex karyotypes. Our findings highlight the indispensable role of integrating cytogenetics and FISH in routine diagnostic workflows, especially in cases with cryptic rearrangements or subclonal abnormalities, thereby underscoring their clinical and prognostic significance.