Application of Fluorescence in situ Hybridization in Malignant Hemopathies: First Experience from Albania

Introduction:

Genetic alterations in genome organization are essential for the clinical evaluation of hematological disorders. Fluorescence in situ hybridization (FISH) enables the detection and determination of the frequency of genetic abnormalities.

Objectives:

This study aims to apply selected probes as a diagnostic approach to aid in establishing diagnosis, predicting prognosis, and monitoring disease progression.

Results:

Fluorescence microscopy analysis of inter-phase cells was undertaken at the Laboratory of Molecular Cytogenetics, within the Clinical Genetics Laboratory Service, in a cohort of 330 adult patients with hematological disorders clinically established by the Hematology Service at QSU “Mother Teresa,” Tirana, Albania.

Detection of the BCR-ABL1 genetic rearrangement was observed in 50 (40%) patients with CML, providing assistance in establishing a rapid diagnosis and monitoring patient response to the treatment provided. Among AML patients with the PML-RARA genetic rearrangement, 11 (25%) achieved complete remission in a short period following targeted therapy, resulting in a reduced risk of mortality.

The deletion of TP53 gene identified in a group of 44 (50%) CLL patients represents a major clinical challenge due to its association with a poor prognosis, resistance to the given treatment and an aggressive disease with frequent relapses.

Conclusions:

Through the identification of specific genetic mutations, molecular cytogenetics contributes to early diagnosis, improving the prognosis and choosing the most appropriate treatments, significantly improving the survival and quality of patient’s life.