Table 1.
Cohort | Mutation Carrier | Wild Type |
---|---|---|
Initial | ||
No. of samples | 72 | 111 |
Mean age, years (range) | 12.54 (0.5-47.0) | 15.46 (0.03-60) |
Male:female sex* | 34:33 | 46:59 |
Diagnosis | ||
Adrenocortical carcinoma | 22 | 24 |
Brain tumor | 19 | 20 |
Choroid plexus carcinoma | 9 | 7 |
Astrocytoma/glioblastoma | 7 | 10 |
Primitive neuroectodermal tumor | 3 | 4 |
Breast | 10 | 10 |
Sarcoma | 14 | 24 |
Rhabdomyosarcoma | 12 | 21 |
Other (myofibroblastic sarcoma, leiomyosarcoma) | 2 | 3 |
Papillary thyroid carcinoma | 0 | 3 |
Multiple primary malignancies | 24 | 1 |
Unaffected | 17 | 30 |
Validation | ||
No. of samples | 30 | 46 |
Mean age, years (range) | 18.03 (2-49.0) | 29 (0.83-60.0) |
Male:female sex* | 8:16 | 12:33 |
Tumor validation (choroid plexus carcinomas) | ||
No. of samples | 24 | 18 |
Mean age, years (range) | 1.22 (0.39-6.9) | 3.35 (0.01-16.53) |
Male:female sex | 18:6 | 10:8 |
Where reported.