Hereditary non-polyposis colorectal cancer: The rise and fall of a confusing term

Table 2 Conditions and clinical scenarios that may mimic Lynch syndrome

Attenuated Familial Adenomatous Polyposis[37] (polyps may not be numerous)

MYH polyposis[38] (polyps may not be numerous)

Juvenile polyposis[66] (polyps may not be numerous and may be adenomatous)

Germline mutation of TGFbetaRII[67] and AXIN2[68] (is not associated with DNA MSI)

Hereditary mixed polyposis syndrome[69] (polyps may not be numerous and may be adenomatous)

Hyperplastic polyposis[53] (polyps may not be numerous and may be adenomatous)

Serrated Pathway Syndrome[54] (polyps may not be numerous and may be adenomatous and CRCs may show DNA MSI)

Germline hemi-allelic methylation of MLH1[48-51] (multiple, early onset cancers with Lynch syndrome spectrum and having DNA MSI)

Lynch syndrome variants[61,65] (autosomal recessive Turcot syndrome due to PMS2 mutation)

Familial Colorectal Cancer-Type X[40] (Amsterdam criteria met but Lynch syndrome and conditions listed above have been excluded)