Abstract
With the recent FDA approval of tumor mutational burden-high (TMB-H) status as a biomarker for treatment with a PD-1 inhibitor regardless of tumor type, accurate assessment of patient-specific TMB is more critical now more than ever. Using paired tumor and germline exome sequencing data from 701 patients newly diagnosed with multiple myeloma, including 575 self-reported White patients and 126 self-reported Black patients, we observed that compared to the gold standard of filtering germline variants with patient-paired germline sequencing data, TMB estimates were significantly higher in both Black and White patients when using public databases for filtering non-somatic mutations; however, TMB was more significantly inflated in Black patients compared to White patients. TMB as a biomarker for patient selection to receive immune checkpoint inhibitors (ICIs) therapy without patient-paired germline sequencing may introduce racial bias due to the under-representation of minority groups in public databases.
Highlights
Immune checkpoint inhibitors (ICIs) have dramatically improved the survival of patients with many types of cancer
COMPARATIVE ESTIMATIONS OF tumor mutational burden (TMB) The gold standard for identifying somatic mutations is to filter out non-somatic variants using patient-paired germline DNA sequencing data
TMBs estimated using this standard approach were comparable between tumors from Black and White patients (TMB of 6.09 ± 0.21, mean ± S.E, in Black patients; 5.47 ± 0.10 in White patients) (Table 1)
Summary
Mean (standard error) graphic features of each patient were downloaded from the MMRF Researcher Gateway (https://research.themmrf.org/). White newly diagnosed multiple myeloma, 575 (82%) self-identified as White and 126 (18%) self-identified as Black
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