%0 Generic %A A.S., Roug %A P., Wendtland %A K., Bendix %A E., Kjeldsen %D 2013 %T Supplementary Material for: Supernumerary Isochromosome 1, idic(1)(p12), Leading to Tetrasomy 1q in Burkitt Lymphoma %U https://karger.figshare.com/articles/dataset/Supplementary_Material_for_Supernumerary_Isochromosome_1_idic_1_p12_Leading_to_Tetrasomy_1q_in_Burkitt_Lymphoma/5125756 %R 10.6084/m9.figshare.5125756.v1 %2 https://karger.figshare.com/ndownloader/files/8712880 %K Burkitt lymphoma %K Isochromosome %K Isodicentric chromosome 1 %K Tetrasomy 1q %X Burkitt lymphoma (BL) is an aggressive mature B-cell neoplasm. The cytogenetic hallmark are MYC-involving translocations, most frequently as t(8;14)(q24;q32). Additional cytogenetic abnormalities are seen in the majority of cases. The most frequent additional aberration involves the long arm of chromosome 1, either as partial or complete trisomy 1q. A very rare additional aberration is a supernumerary isochromosome 1q, i(1)(q10), resulting in tetrasomy 1q. The biological significance of this aberration is unclear. We present a highly aggressive case of BL in a child with immature B-cell immunophenotype (IP) and supernumerary i(1)(q10). Diagnostic karyotyping showed 47,XY,+i(1)(q10),t(8;14)(q24;q32)[2]/47,idem,del(15)(q24)[21]/46,XY[2]. aCGH analysis detected a gain of 1p12qter and a loss of 15q22q25. FISH analysis confirmed the isodicentric chromosome 1, which has not previously been reported in BL. In the literature, supernumerary i(1)(q10) was found in 11 cases of which >80% presented with immature B-cell IP and >60% relapsed or died. Tetrasomy 1q resulting from supernumerary idic(1)(p12) or i(1)(q10) is a rare genetic event in BL and probably associated with immature B-cell IP. We propose that high amplification of genes on chromosome 1p12qter may contribute to the BL IP and disease progression. %I Karger Publishers