Furthermore, other tumor suppressor genes were also altered in the relapsed tumors: case 1 harbored one copy loss of CDKN2A, RB1, and BRCA2 genes, and case 2 harbored truncating mutations in RB1 (chr13:48,345,108:G>T, p.E137X, VAF 0.40) and BRCA2 (chr13:32,340,089:G>T, p.E1912X, VAF 0.50) genes as well as hemizygous deletion of PTEN (Fig. 1f). The gene discussed is CDKN2A; the disease is neoplasm.