Indication criteria for CMMRD testing in cancer patients
| Indication for CMMRD testing in a cancer patient | ≥3 points |
|---|---|
| Malignancies/premalignancies: one is mandatory; if more than one is present in the patient, add the points | |
| Carcinoma from the LS spectrum* at age <25 years | 3 points |
| Multiple bowel adenomas at age <25 years and absence of APC/MUTYH mutation(s) or a single high-grade dysplasia adenoma at age <25 years | 3 points |
| WHO grade III or IV glioma at age <25 years | 2 points |
| NHL of T-cell lineage or sPNET at age <18 years | 2 points |
| Any malignancy at age <18 years | 1 point |
| Additional features: optional; if more than one of the following is present, add the points | |
| Clinical sign of NF1 and/or ≥2 hyperpigmented and/or hypopigmented skin alterations Ø>1 cm in the patient | 2 points |
| Diagnosis of LS in a first-degree or second-degree relative | 2 points |
| Carcinoma from LS spectrum* before the age of 60 in first-degree, second-degree, and third-degree relative | 1 point |
| A sibling with carcinoma from the LS spectrum*, high-grade glioma, sPNET or NHL | 2 points |
| A sibling with any type of childhood malignancy | 1 point |
| Multiple pilomatricomas in the patient | 2 points |
| One pilomatricoma in the patient | 1 point |
| Agenesis of the corpus callosum or non-therapy-induced cavernoma in the patient | 1 point |
| Consanguineous parents | 1 point |
| Deficiency/reduced levels of IgG2/4 and/or IgA | 1 point |
*Colorectal, endometrial, small bowel, ureter, renal pelvis, biliary tract, stomach, bladder carcinoma.
CMMRD, constitutional mismatch repair deficiency; LS, Lynch syndrome; NHL, non-Hodgkin's lymphomas; sPNET, supratentorial primitive neuroectodermal tumours.