Criteria | |
---|---|
Indication for CMMRD testing | ≥3 Points |
Malignancies/premalignancies: 1 is mandatory; if >1 is present in the patient, add the points | |
Carcinoma from the LS spectrumb at younger than 25 years of age | 3 points |
Multiple bowel adenomas at younger than 25 years of age and absence of APC/MUTYH mutations or a single high-grade dysplasia adenoma at younger than 25 years of age | 3 points |
WHO grade III or IV glioma at younger than 25 years of age | 2 points |
NHL of T-cell lineage or sPNET at younger than 18 years of age | 2 points |
Any malignancy at younger than 18 years of age | 1 point |
Additional features: optional; if >1 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 spectrumb before 60 years of age in first-degree, second-degree, and third-degree relatives | 1 point |
A sibling with carcinoma from the LS spectrum,b 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 nontherapy-induced cavernoma in the patient | 1 point |
Consanguineous parents | 1 point |
Deficiency/reduced levels of immunoglobulin (Ig)G2/4 and/or IgA | 1 point |
Note:—LS indicates Lynch syndrome; NHL, non-Hodgkin lymphoma; sPNET, supratentorial primitive neuroectodermal tumor; NF1, neurofibromatosis type I.
↵a Reprinted with permission from Wimmer et al.5
↵b Colorectal, endometrial, small bowel, ureter, renal pelvis, biliary tract, stomach, bladder carcinoma.