Official Journal of the Albanian Society of Internal Medicine

ISSN 3007-6692

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APPLICATION OF MOLECULAR CYTOGENETIC TEST IN HAEMATOLOGICAL MALIGNANCIES FOR THE FIRST TIME IN ALBANIA

Genetic Characterization and changes in genome organization are crucial in the clinical evaluation of almost every form of hematological malignancy. Studies has shown that Fluorescence In Situ hybridization has made possible to determine the genetic abnormalities and estabilish their and frequency. After great efforts and challenges, this technology was applied for the first time in the Molecular Cytogenetic Laboratory, Clinical Genetic Laboratory Service, University Hospital Center "Mother Teresa." The aim was to use proper probes as a diagnostic tool to understand the pathophysiology, diagnosis, treatment, prognosis, and monitoring of the disease activity. Thanks to simple procedure is possible to recognize hematological malignancy abnormality. Screening by in situ hybridization plays a supportive role in personalized medicine. The images captured using fluorescently labeled probes allow the confirmation of genetic abnormalities such as deletions, translocations, or break-apart rearrangements using Meta Class software. According to the European recommendations for probes in malignant hemopathies, these probes are available for diagnosis and classification of the diseases, providing important prognostic and therapeutic information, monitoring disease response to treatment, Assessment of minimal residual disease, and identification of an early relapse stage of the disease. The use of this technology for the first time in Albania in the molecular cytogenetics laboratory is an important achievement that contributes to the advancement of diagnostic and personalized medicine for hematology patients. It can provide a powerful tool for diagnosing these diseases with a very high level of accuracy and precision. This also increases the quality of health care and brings opportunities for further progress in scientific and medical research in the country. Accurately knowing the genetic characteristics of a hematological disease can help determine the best treatments for patients.