Objective:

To summarize the role of chromosomal and genetic molecular pathology in the diagnosis and treatment of blood cancer, emphasizing its significance in improving patient outcomes.

Key Findings:

• Molecular pathology has significantly enhanced the understanding of blood cancer biology, aetiology, and treatment, exemplified by the development of therapies targeting BCR-ABL in chronic myeloid leukaemia.
• Targeted therapies have been developed based on specific genetic abnormalities, such as FLT3 inhibitors for acute myeloid leukaemia, improving patient outcomes.
• Certain chromosomal abnormalities, like the Philadelphia chromosome, are associated with more severe disease outcomes, guiding treatment decisions.

Interpretation:

Advancements in molecular pathology are crucial for the diagnosis and management of hematologic malignancies, allowing for personalized treatment strategies that are tailored to individual genetic profiles.

Limitations:

• The review may not cover all recent advancements in molecular pathology due to the rapidly evolving nature of the field, particularly in the context of emerging therapies and technologies.
• Focus is primarily on genetic and chromosomal abnormalities, potentially overlooking other factors influencing blood cancer, such as the tumor microenvironment and epigenetic changes.

Conclusion:

Continued advancements in molecular techniques, such as CRISPR and single-cell sequencing, are expected to further enhance the understanding and treatment of blood cancers, paving the way for innovative therapeutic strategies.