Table 1 Diagnostic criteria for NF1 (two or more must be present)
From: Malignant peripheral nerve sheath tumours in inherited disease
| Disease | Birth incidence | Main tumour associations | Known risk of MPNST |
|---|---|---|---|
| NF1 | 1 in 2,712 |
Neurofibroma, MPNST, glioma AML, phaeochromocytoma | yes |
| Schwannomatosis | 1 in 100,000 | Schwannoma, meningioma | No |
| NF2 | 1 in 33,000 | Schwannoma, meningioma, ependymoma | Only after irradiation |
| BRCA1 | 1 in 900 | Breast cancer, Ovarian cancer | No |
| BRCA2 | 1 in 850 | Breast cancer, Ovarian cancer, prostate cancer | No |
| TP53 | 1 in 3000 | Breast cancer, sarcoma, glioma, lung cancer, adreno-cortical | possible |
| FAP | 1 in 8,619 | Colorectal, duodenal, hepatoblastoma, thyroid | No |
| MSH2 | 1 in 2000 | Colorectal, endometrium, ovarian, upper urothelial, gastric, glioma | No |
| MLH1 | 1 in 2000 | Colorectal, endometrium, ovarian, upper urothelial, gastric, glioma | No |
| MSH6 | 1 in 10,000 | Colorectal, endometrium, ovarian, upper urothelial, gastric, glioma | No |
| vHL | 1 in 42,987 | Renal cancer, haemangioblastoma | No |
| Gorlin syndrome | 1 in 18,976 | Basal cell carcinoma, medulloblastoma | No |