Primary mediastinal (thymic) large B-cell lymphoma with a der(14)t(8;14)(q24;q32) and a translocation of MYC to the derivative chromosome 14 with a deleted IgH locus.
We report a case of primary mediastinal (thymic) large B-cell lymphoma (PMBL) with an initial karyotype containing numerical chromosomal aberrations: +X, +9, +12, +21, and a novel translocation t(2;11)(q?31; q23 approximately 24) with a duplication of the derivative chromosome 11. Subsequent multicolor fluorescence in situ hybridization (M-FISH) analysis revealed a der(14)t(8;14)(q24;q32). Further analysis using fluorescence in situ hybridization (FISH) with locus-specific probes revealed loss of the entire IgH locus from the der(14)t(8;14) and relocation of MYC to this derivative chromosome 14. Our data show definitively the existence of the t(8;14) in PMBL, previously only suspected. This finding supplies additional evidence that a translocation-mediated MYC activation may be an important event in the pathogenesis of this unique lymphoma.
Stejskalova
Eva
E
Department of Pediatric Hematology and Oncology, University Hospital Motol-Prague, Prague 5 - Motol, Czech Republic. eva.stejskalova@lfmotol.cuni.cz
Jarosova
Marie
M
Kabickova
Edita
E
Smelhaus
Vratislav
V
Mrhalova
Marcela
M
Kodet
Roman
R
D000293:Adolescent; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D050438:Genes, Immunoglobulin Heavy Chain; D016259:Genes, myc; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics*; D008297:Male; D008479:Mediastinal Neoplasms / Q000235:genetics*; D014178:Translocation, Genetic