Cancer arises from an accumulation of somatic DNA changes, including mutations in specific cancer genes and large chromosomal alterations. These chromosomal changes are usually observed as differences in the number of copies of large segments, known as copy number alterations (CNAs). Head and neck tumors develop in the mucosal lining of the upper-aerodigestive tract, and are mostly caused by smoking, alcohol use, or infection with the human papillomavirus (HPV). Generally, these tumors exhibit prominent CNAs. However, around 10% of head and neck tumors show few or no CNAs, also indicated as ‘CNA-quiet’. This group of tumors was first described by Ruud Brakenhoff, a researcher at Amsterdam UMC, and confirmed by subsequent large-scale international studies of the TCGA. Remaining questions were the lack of a clear definition, impact of stromal contamination, and whether these CNA-quiet tumors display different clinical, histological and immunological characteristics when compared to the other tumors.
New research by Tara Muijlwijk, Irene Nauta, Jos Poell, Rieneke van de Ven, and led by René Leemans and Ruud Brakenhoff, characterizes this subgroup in a cohort of 802 oral cavity tumors. The findings were published on October 20th in Nature Communications. Notably, these tumors are HPV-negative, have few (<6) CNAs, and are diagnosed more commonly in older women who have smoked little or not at all. These tumors show favorable immunological features and an improved outcome — a new category of head and neck tumors expected to increase with the aging population.
Find the full publication on Nature Communications