Data from <i>JAK3</i> Variant, Immune Signatures, DNA Methylation, and Social Determinants Linked to Survival Racial Disparities in Head and Neck Cancer Patients

Abstract

<div>Abstract<p>To inform novel personalized medicine approaches for race and socioeconomic disparities in head and neck cancer, we examined germline and somatic mutations, immune signatures, and epigenetic alterations linked to neighborhood determinants of health in Black and non-Latino White (NLW) patients with head and neck cancer. Cox proportional hazards revealed that Black patients with squamous cell carcinoma of head and neck (HNSCC) with <i>PAX5</i> (<i>P</i> = 0.06) and <i>PAX1</i> (<i>P</i> = 0.017) promoter methylation had worse survival than NLW patients, after controlling for education, zipcode, and tumor–node–metastasis stage (<i>n</i> = 118). We also found that promoter methylation of <i>PAX1</i> and P<i>AX5</i> (<i>n</i> = 78), was correlated with neighborhood characteristics at the zip-code level (<i>P</i> < 0.05). Analyses also showed differences in the frequency of <i>TP53</i> mutations (<i>n</i> = 32) and tumor-infiltrating lymphocyte (TIL) counts (<i>n</i> = 24), and the presence of a specific C → A germline mutation in <i>JAK3</i>, chr19:17954215 (protein P132T), in Black patients with HNSCC (<i>n</i> = 73; <i>P</i> < 0.05), when compared with NLW (<i>n</i> = 37) patients. TIL counts are associated (<i>P</i> = 0.035) with long-term (>5 years), when compared with short-term survival (<2 years). We show bio-social determinants of health associated with survival in Black patients with HNSCC, which together with racial differences shown in germline mutations, somatic mutations, and TIL counts, suggests that contextual factors may significantly inform precision oncology services for diverse populations.</p></div>