ERN GENTURIS cancer surveillance guideline for individuals with PTEN hamartoma tumour syndrome (PHTS).

Loss of function of PTEN (a PI3K/AKT pathway regulator) predisposing to a multi-organ tumour risk.

Update of the European ERN GENTURIS cancer surveillance recommendations for PTEN hamartoma tumour syndrome (PHTS), following new data on risks and screening effectiveness since the 2020 version. PHTS predisposes to a high risk of breast, thyroid and endometrial cancers and a moderate risk of renal and colorectal cancer and melanoma. The revised recommendations, developed with expert clinicians and patient representatives, refine surveillance across these sites. The authors stress the need for prospective evaluation of their effectiveness.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

A reference update, directly actionable for managing PTEN carriers: it consolidates multi-organ surveillance intervals and modalities and explicitly involves patients. The main caveat, honestly stated by the authors, is the lack of prospective validation of these demanding protocols. To be integrated without delay into cancer-genetics clinics.

Analysis by Dr Thibaut Benquey