Table 1:

Indication criteria for CMMRD testing in patients with cancera

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 age3 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 age3 points
  WHO grade III or IV glioma at younger than 25 years of age2 points
  NHL of T-cell lineage or sPNET at younger than 18 years of age2 points
  Any malignancy at younger than 18 years of age1 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 patient2 points
  Diagnosis of LS in a first-degree or second-degree relative2 points
  Carcinoma from LS spectrumb before 60 years of age in first-degree, second-degree, and third-degree relatives1 point
  A sibling with carcinoma from the LS spectrum,b 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 nontherapy-induced cavernoma in the patient1 point
  Consanguineous parents1 point
  Deficiency/reduced levels of immunoglobulin (Ig)G2/4 and/or IgA1 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.