engleski

Molecular cytogenetic characteristics of B- celllymphoma with complex translocation (8 ; 14 ; 18)

The functional consequence of gene dysregulation in lymphoid lineage development and lymphomagenesis may be effected by juxtaposition of homeobox (Hox) genes with imunoglobulin heavy chain gene (IGH). Specific chromosomal translocations are closely associated with distinctive subtypes of non-Hodgkin lymphoma (NHL). Concurent activation of BCL2 and MYC usualy occurs in B-cell non-Hodgkin lymphoma (B-NHL) by translocation of both oncogenes to both IGH alleles. Here we describe B-NHL molecular cytogenetic analysis culture of bone marrow from 51-year-old female patient at diagnosis. A bone marrow aspirate contained 38% atypical lymphoblast cells with multiple vacoules. Imunophenotipic evaluation showed expresion of CDI9, CD20, CD30, CD38 AND clonal Ig kappa light chains and negativ.e of CD 10. Morphology and immunologic phenotype identified an ALL L3 subtype (Burkitt). This indicates clonal evolution or clonal selection.. Conventional cytogenetics revealed two normal cells with karyotype 46, XX and compositum karyotype: 47 , XX, del(2), del(3q), der(8q, 24 ), -13, t(14 ; 18) (q32 ; q2l), del(15q), +2mar in 20 metaphases. Specific t(l4 ; 18) was present in 60% of analysed metaphases, and also suggested t(8 ; 14). FISH studies on metaphase chromosomes and directly on parafin-embedded tissue section with MYC/IGH and IGHIBCL2 probes showed complex translocation (8 ; 14 ; 18)(8q24 ; q32 ; q21) leading to activation of MYC at 8q21 and BCL2 at 18q21 allels via juxtaposition with IGH locus at 14q32. Future investigations are needed to disclose structure of other reanged chromosomes.

B-cell lymphoma; molecular cytogenetic characteristics; t(8; 14; 18)

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