Table 1

Representative cancer types enriched for the ALT pathway

Cancer type% ALT-positive (range)*Known ALT-associated genes involved
Complex karyotype sarcomas
 Leiomyosarcoma60 (52–78) ATRX, DAXX
 Osteosarcoma64 (49–86) ATRX, DAXX, SLX4IP, SMARCAL1
 Liposarcoma27 (25–29) ATRX
 Undifferentiated sarcoma59 (36–77) ATRX
Central nervous system tumours
 IDH-mutant astrocytoma (WHO grade II)55 (27–100) ATRX
 IDH-mutant astrocytoma (WHO grade III)65 (21–92) ATRX
 IDH-mutant astrocytoma (WHO grade IV); adult16 (11–25) ATRX, SMARCAL1
 IDH-mutant astrocytoma (WHO grade IV); paediatric39 (12–56) ATRX, H3F3A
Other examples of specific cancer types
 Pancreatic neuroendocrine tumours31 (21–61) DAXX, ATRX
 Neuroblastoma25 (18–47) ATRX
 Chromophobe hepatocellular carcinoma89 (87–92) ATRX, SMARCAL1
  • *Adapted and updated from MacKenzie et al. 10

  • ALT, alternative lengthening of telomeres; IDH, isocitrate dehydrogenase.