Various aggressive lymphomas entities have been associated with immunodeficiency. To provide further evidence that also MYC-negative high-grade B-cell (formerly Burkitt-like) lymphoma with 11q aberrations comprises an immunodeficiency-related subtype, we here conducted a comprehensive pathological and genetic workup of a 25-year-old patient with this type of lymphoma and simultaneous papillary renal cell carcinoma. The patient developed both malignancies following extensive childhood immunosuppression and a kidney transplant. Germline and somatic genetic analyses included interphase cytogenetics, imbalance mapping, and exome sequencing. We identified potential germline-predisposition to inborn errors of immunity, kidney disease, and cancer, along with a germline region of homozygosity in 20q. Each tumor showed imbalances and single nucleotide variants typical for the respective diagnosis, with shared gains in the name-giving region in 11q, gain of the MYC gene in 8q24 and trisomy 12. While we can show that the imbalances in 8q and 11q arise from different mechanisms in both tumors, trisomy 12 involved gain of the same parental chromosome. Our findings corroborate the existence of a subtype of immunodeficiency-related high-grade B-cell lymphomas with 11q aberrations, provide further insights into its molecular pathogenesis, and reveal potential pitfalls in the molecular diagnosis of simultaneous tumors based on the technology applied.
Keywords: Burkitt lymphoma; High grade B-cell lymphoma with 11q aberrations; Immunodeficiency; Inborn errors of immunity; MYC; Papillary renal cell carcinoma.
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