(HealthDay News) — Genomic and epigenomic alterations in the PAX gene family are associated with racial disparity in head and neck squamous cell carcinoma (HNSCC) survival, according to a study presented at the American Association for Cancer Research’s Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved Atlanta.

Rafael Guerrero-Preston, DrPH, from Johns Hopkins University in Baltimore, and colleagues examined the racial disparity in overall HNSCC survival rates using data from an integrated molecular analysis for 107 HNSCC samples. Validation was performed on 279 samples from The Cancer Genome Atlas project.

The researchers observed higher frequencies of TP53, FBXW7, and NOTCH1 mutations in black HNSCC patients, but no differences in PAX1 or PAX5 methylation across all tumor sites combined.

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However, differences were seen when looking at data based on each tumor site. Compared with non-Latino white patients, black patients had higher ZIC4, PLCB1, and PAX5 methylation, and p53 mutations. In black patients, no NOTCH1 mutations were seen in non-oropharynx HNSCC. In oropharynx HNSCC, non-Latino whites had increased frequency of PAX5 methylation and higher frequency of combined p53 mutation or PAX5 methylation, whereas the frequency of combined NOTCH1mut or PAX1met was higher for blacks.

For all HNSCC patients, worse overall survival (OS) was seen with combined PAX5 greater promoter methylation and p53 mutations vs. p53 mutations. OS disparities were related to age and PAX5 greater promoter methylation.

“Our results highlight the differential genomic and epigenomic alterations in PAX, NOTCH, and TP53 pathways between African-American and non-Latino white HNSCC patients,” Guerrero-Preston said in a press release.

“If further validated in larger cohorts, these discoveries could be used to develop genomic and epigenomic panels that will enable more treatment options, a reduction in treatment cost, and improvement in survival rates for patients with HNSCC.” 


  1. Guerrero-Preston R. Integrated genomic and epigenomic deep sequencing analyses reveal head and neck cancer survival disparities associated to alterations in the PAX, NOTCH1, and TP53 pathways. AACR’s Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; Atlanta.