Cytogenetic and Molecular Cytogenetic Markers in Patients with Multiple Myeloma - Prognostic Significance // Цитогенетични и молекулярно-цитогенетични маркери при пациенти с множествен миелом – прогностично значение

Multiple myeloma is a debilitating disease representing a significant health problem. The study included 110 patients analysed in the Laboratory of Medical Genetics at St. Marina University Hospital – Varna. Conventional cytogenetic analysis was performed at diagnosis in 97 of the patients. It was successful in 83 of them, and in 14, no metaphases were found for analysis despite culture. Of the 83 successfully performed analyses, the karyotype was normal in 69 and aberrant in 14. Depending on the chromosome set, two groups of patients with an aberrant karyotype were identified: 5 patients with a hyperdiploid karyotype and eight patients with a non-hyperdiploid karyotype. Apart from these groups, a deletion in chromosome 16 was found in 1 patient in all metaphases. We found a statistically significant difference between those with normal and pathological karyotypes and the percentage of plasma cells in the bone marrow. A total of 30 patients were successfully analysed by FISH; the combination of CG and FISH was applied in 17 of them, and the remaining 13 were analysed by FISH alone. In 9 patients, FISH was performed only to look for del(17)(p13); in 6, a deletion was found, and in the remaining 3, the results were normal. FISH looking only for the rearrangement in the IGH gene in the 14q32 region was performed in 6 patients; the result was normal. In 15 patients, three probes were sequentially applied in different analyses: for del(17)(p13), the translocations t(4;14), and t(14;16). Del(17)(p13) was detected in 3 of them, and no translocations were detected.

Grantor dc:publisher

Medical University of Varna

Year dc:date

2023

Authors dc:creator

• Miteva, Valentina
• Митева, Валентина

• multiple myeloma
• cytogenetic analysis
• Генетика / Genetics

Repository record dc:identifier

http://repository.mu-varna.bg/handle/nls/3453

OAI identifier oai:identifier

oai:repository.mu-varna.bg:nls/3453