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B. Gonzalez-Farre et al.
widespread disease in the context of chronic human immunodeficiency virus infection. All cases were treated with chemotherapy, including rituximab in five. All patients were alive with no disease after a median follow- up of 29 months (Table 1).
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Copy number analysis
The copy number analysis of all the 11 BLL-11q cases showed a total of 78 alterations (mean 7.1; range, 2-15) (Online Supplementary Tables S5 and S6). Seven cases had the typical 11q gain/loss pattern (Figure 2A-B, Online
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Figure 2. Genetic features of cases of Burkitt-like lymphoma with 11q aberration. (A) Global copy number profile of the 11 cases of Burkitt-like lymphoma (BLL) with 11q aberration. The horizontal axis indicates chromosomes from 1 to Y and p to q. The vertical axis indicates the frequency of the genomic aberration among the cases ana- lyzed. Gains are depicted in blue, losses are depicted in red. (B) Individual copy number profile of case #16 showing a prototypical, gain, loss and amplification in the 11q region. Each probe is aligned from chromosome 1 to Y and p to q arm. (C) Mutational overview of ten cases of BLL with 11q aberration. The heat map shows the case- specific pattern of driver mutations found by next-generation sequencing. Each column represents a case and each row represents a gene. The right bar graph illustrates the mutation frequency of each gene. (D) A diagram of the relative positions of driver mutations is shown for BTG2, ETS1 and GNA13 genes. Domains BTG2: BTG family domain. Domains ETS1: PNT: pointed domain; TAD: transactivation domain; H-1/2: inhibitory a-helices 1/2; DBD: DNA binding domain; H4-5: a-helix 4/5. Domains GNA13: G-alpha: G protein a subunit. Circles indicate missense mutations, triangles indicate truncating mutations and rhombi indicate splicing mutations.
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haematologica | 2019; 104(9)