Age-based differences in melanoma outcomes warrant different considerations for diagnostic and therapeutic approaches in each group in order to maximize quality of life while minimizing complications and costs. Prospective, multicenter studies should evaluate the role of diagnostic procedures for pediatric patients.
SUMMARY
The majority of paediatric Burkitt lymphoma (pBL) patients that relapse will die of disease, but markers for this high-risk subset are unknown. MYC translocations characterize pBL, but additional genetic changes may relate to prognosis and serve as potential biomarkers. We utilized a molecular inversion probe single nucleotide polymorphism assay to perform high resolution, genome-wide copy number analysis on archival formalin-fixed, paraffin-embedded pBL and germline tissues. We identified copy number abnormalities (CNAs) in 18/28 patients (64%) with a total of 62 CNAs that included 32 gains and 30 copy number losses. We identified 7 recurrent CNAs including 1q gain (7/28, 25%), 13q gain (3/28, 11%), and 17p loss (4/28, 14%). The minimum common amplified region on 13q was at 13q31 and included the MIR17HG (MIR17-92) locus. Samples with this gain had higher levels of MIR17 RNA and showed a tendency for early relapse. Tumour-specific uniparental disomy was identified in 32% of cases and usually was recurrent. These results demonstrate that high-resolution copy number analysis can be performed on archival lymphoma tissue specimens, which has significance for the study of rare diseases.
pCR was associated with favorable tumor factors, insurance status, time between radiation and surgery, and institutional volume. It is not clear what is driving the higher rates of pCR at high-volume institutions. Research targeted at understanding processes that are associated with pCR in high-volume institutions is needed so that similar results can be achieved across the spectrum of facilities caring for patients in this population.
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