RESUMO
Acute lymphoblastic leukemia (ALL) is the most common form of childhood malignancy. Detecting and characterizing recurrent translocations is critical for ALL diagnosis and treatment. IGH (immunoglobulin heavy chain) rearrangements are relatively common in lymphoproliferative disorders, including ALL. Here we report a 16-year-old boy who was diagnosed with B acute lymphoblastic leukemia. Chromosome analysis showed a t(14;17)(q32;q21) with an additional copy of the derivative chromosome 14. IGH rearrangement was confirmed by concurrent FISH analysis. Chromosomal microarray analysis (CMA) showed the breakpoint at the 5 prime end of the IGF2BP1 gene located at 17q21.32. To the best of our knowledge, this is the first report of ALL with a 14;17 translocation resulting in an IGH-IGF2BP1 fusion; however, previous studies have implicated a role for up-regulation of IGF2BP1 in ALL.
Assuntos
Cromossomos Humanos Par 11/genética , Cromossomos Humanos Par 14/genética , Fusão Gênica , Rearranjo Gênico , Cadeias Pesadas de Imunoglobulinas/genética , Leucemia de Células B/genética , Leucemia-Linfoma Linfoblástico de Células Precursoras/genética , Proteínas de Ligação a RNA/genética , Translocação Genética/genética , Adolescente , Humanos , Leucemia de Células B/patologia , Leucemia de Células B/terapia , Masculino , Reação em Cadeia da Polimerase , Leucemia-Linfoma Linfoblástico de Células Precursoras/patologia , Leucemia-Linfoma Linfoblástico de Células Precursoras/terapia , PrognósticoRESUMO
The role of histologic examination in lymphoma diagnosis has been called into question by proponents of new technologies, such as genomics and proteomics. We review the history and salient features of morphologic evaluation in lymphoid diseases, and discuss the general and specific limitations of mature ancillary techniques, such as immunohistochemistry, flow cytometry, and molecular studies. We then speculate on the future relationship between morphology and the new genomic and proteomic technologies as they become integrated into clinical practice.
