Patients who are diagnosed with the Cowden syndrome or other syndromes with germline alteration of the PTEN tumor suppressor gene are said to have the PTEN Hamartoma Tumor Syndrome (PHTS). It causes a rise in the danger posed by colorectal, breast, and endometrial cancer as well as polyposis. As a result, there is a clinical overlap gets produced with hereditary breast and ovarian cancer (HBOC), adenomatous polyposis syndromes (APS), and Lynch syndrome (LS). In order to ascertain the frequency of the convergence of these syndromes’ testing criteria and how frequently testing for other genes was ordered before testing PTEN, we went over our patients with PHTS.

The relaxed International Cowden Consortium criteria as well as the existence of germline PTEN alteration was used to select patients for this analysis. Multiplex ligation-dependent probe amplification analysis/mutation scanning was used to recognize alterations while quantitative polymerase chain reaction/sequencing was utilized to validate the mutations. In cases where patients happened to be under the age of 18, adopted, or were diagnosed with the Cowden syndrome before 1998, they were ruled out from the study. Furthermore, in order to discern whether or not the patients met the LS-relevant Amsterdam II/Bethesda 2004 criteria, HBOC testing criteria, or happened to have adenomatous polyps, standard risk-assessment models had been applied. Cleveland Clinic PTEN risk calculator was put to use to gauge the possibility of patients previously having PTEN mutation.

59 (43.1%) out of 137 adult probands who were PTEN mutation-positive were eligible for HBOC or LS. HBOC, APS, or LS testing was proffered to 45 (32.8%) of these. None of the 6 patients that went forward with the APS testing were eligible for its criteria. Patients who met the HBOC testing criteria were promptly tested for PTEN by a genetic specialist in order to evaluate the initial risk. The expense of $66,080 for gene testing 22 different, unlikely syndromes could have been avoided by utilizing the PTEN risk assessment tool.

For patients who have HBOC, APS, or LS, PHTS is a fundamental distinguishing diagnosis. Professionals can be aided in concentrating on genetic analysis and comprehending multiplex testing with the usage of risk assessment tools.