Table 3.
Percentage of positive cases by selected tumor types. Genes in which P/LP variants were detected are listed by disease type. Note that some patients had multiple P/LP variants, hence some tumor types have more genes with P/LP variants listed than positive cases.
| Tumor type | Total cases | Positive cases | Genes with P/LP variants |
|---|---|---|---|
| Astrocytoma | 27 | 5 (19%) | BRCA2, SDHD, FANCC, CHEK2, RECQL4 |
| Desmoplastic Small Round Cell Tumor | 16 | 1 (6%) | PALB2 |
| Diffuse Intrinsic Pontine Glioma | 7 | 0 | |
| Ependymoma | 14 | 3 (21%) | NF1, NF2, FANCA |
| Ewing sarcoma | 31 | 5 (16%) | MLH1, CHEK2, TMEM127, MITF, APC I1307K (2) |
| Ganglioglioma | 7 | 1 (14%) | SUFU |
| Gastrointestinal stromal tumor | 4 | 3 (75%) | SDHA, SDHB, SDHC |
| Germ cell tumor | 17 | 2 (12%) | PMS2, APC I1307K |
| Glioblastoma | 13 | 3 (23%) | PMS2 (homozygous), NF1, CHEK2, MUTYH |
| Hepatoblastoma | 4 | 1 (25%) | PMS2 |
| Hepatocellular carcinoma | 11 | 1 (9%) | MUTYH |
| Malignant Peripheral Nerve Sheath Tumor | 7 | 7 (100%) | NF1 (6), MSH2 |
| Medulloblastoma | 14 | 3 (21%) | TP53, CHEK2, RECQL4 |
| Meningioma | 4 | 2 (50%) | NF2, RB1 |
| Neuroblastoma | 182 | 28 (15%) | PHOX2B (3), ALK, TP53, SDHA, |
| BRCA1, BRCA2, ATM, PTEN, MITF (2), CHEK2 (4), FANCA (2), MUTYH (4), RECQL4 (2), MSH3, ERCC3, APC I1307K (2) | |||
| Osteosarcoma | 74 | 7 (9%) | RB1 (3), TP53, RAD51D, CDKN2A, MUTYH |
| Retinoblastoma | 70 | 34 (49%) | RB1 (31), ERCC3, MITF, CHEK2, MUTYH (2), MSH3, NTHL1 |
| Rhabdomyosarcoma | 45 | 9 (20%) | DICER1, TP53, MSH6, VHL, NBN, APC I1307K (2), FANCC |
| Wilms tumor | 25 | 2 (8%) | APC I1307K, MUTYH |