[NGS-based multi-gene panel testing in hematological malignancies: diagnosis and prognostic prediction]

Area of Science:

• Hematology
• Genomics
• Oncology

Background:

• Traditional diagnosis of blood cancers relies on morphology and immunology.
• Next-generation sequencing (NGS) has uncovered numerous genetic alterations in hematological malignancies.
• Over 300 genetic alterations are now recognized in classifications like the WHO, impacting acute myeloid leukemia subcategorization.

Purpose of the Study:

• To discuss the clinical utility of comprehensive genomic profiling for hematological malignancies.
• To emphasize the role of genomic data in diagnosis and prognostic prediction.
• To highlight the need for a dedicated genomic profiling test for blood cancers.

Main Methods:

• Review of current literature on genomic alterations in hematological diseases.
• Analysis of the application of NGS in solid cancers versus hematological malignancies.
• Discussion of the diagnostic and prognostic value of genetic information.

Main Results:

• NGS has identified over 300 genetic alterations relevant to hematological malignancies.
• Combining genetic information with clinical factors improves prognostic accuracy.
• Genomic profiles of blood cancers differ significantly from solid tumors.

Conclusions:

• Comprehensive genomic profiling is essential for advancing precision medicine in hematological diseases.
• Genomic data is crucial for diagnosis, treatment stratification, and prognosis in blood cancers.
• There is a pressing need for publicly funded, comprehensive genomic profiling tests for hematological malignancies.