Table 11.
Extra-gastrointestinal manifestations in other rare adenomatous polyposis syndromes
| Genes | Extra-GI Manifestations/Cancer |
|---|---|
|
MLH1, MSH2, MSH6, PMS2 [Autosomal recessive] Constitutional MMR deficiency (CMMRD) |
Tumours of the CNS |
| Haematological malignancies | |
| Urinary tract cancer | |
| Breast cancer | |
| Endometrial cancer | |
| Ovarian cancer | |
| Embryonal and germ cell tumours | |
| Sarcomas | |
| Other cancers | |
| Café-au-lait macules (CALMs) and other skin manifestations | |
| Venous malformations | |
|
POLE, POLD1 [Autosomal dominant] Polymerase proofreading-associated polyposis (PPAP) |
Endometrial cancer |
| Breast cancer | |
| Ovarian cancer | |
| Tumours of the CNS | |
| Other cancers | |
|
NTHL1 [Autosomal recessive] NTHL1 tumour syndrome (NTS) |
Breast cancer |
| Endometrial cancer | |
| Tumours of the CNS | |
| Haematological malignancies | |
| Cancers of the urinary tract | |
| Head and neck cancers | |
| Skin cancer | |
| Other cancers | |
|
MBD4 [Autosomal recessive] MBD4-associated neoplasia syndrome (MANS) |
Acute myeloid leukaemia/myelodysplastic syndrome |
| Uveal melanoma | |
| Schwannomas | |
| MSH3 [Autosomal recessive] | Scarce data |
| MLH3 [Autosomal recessive] | Scarce data |
| AXIN2 [Autosomal dominant] | Ectodermal dysplasia |
| Oligodontia |