Table 5

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 years3 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 years3 points
WHO grade III or IV glioma at age <25 years2 points
NHL of T-cell lineage or sPNET at age <18 years2 points
Any malignancy at age <18 years1 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 patient2 points
Diagnosis of LS in a first-degree or second-degree relative2 points
Carcinoma from LS spectrum* before the age of 60 in first-degree, second-degree, and third-degree relative1 point
A sibling with carcinoma from the LS spectrum*, high-grade glioma, sPNET or NHL2 points
A sibling with any type of childhood malignancy1 point
Multiple pilomatricomas in the patient2 points
One pilomatricoma in the patient1 point
Agenesis of the corpus callosum or non-therapy-induced cavernoma in the patient1 point
Consanguineous parents1 point
Deficiency/reduced levels of IgG2/4 and/or IgA1 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.