WES sequencing of the 35 patients was performed, and germline causal gene mutations (CARS or MAP2K2) were detected in 2 patients without a family history of cancer; 1–13 (average 3.06 ± 2.21; median 2) somatic causal gene mutations were identified in the 35 patients, and the somatic mutations were observed in the NOTCH1, FBXW7, PHF6 and JAK3 genes (Figure 1A). Here, PHF6 is linked to cancer.