PTEN hamartoma tumour syndrome is a diverse multi-system disorder predisposing to the development of hamartomatous growths, increasing risk of breast, thyroid, renal cancer, and possibly increasing risk of endometrial cancer, colorectal cancer and melanoma. There is no international consensus on cancer surveillance in PHTS and all current guidelines are based on expert opinion. A comprehensive literature review was undertaken and guidelines were developed by clinicians with expertise from clinical genetics, gynaecology, endocrinology, dermatology, radiology, gastroenterology and general surgery, together with affected individuals and their representatives. Recommendations were put forward for surveillance for breast, thyroid and renal cancers. Limited recommendations were developed for other sites including endometrial, colon and skin. The proposed cancer surveillance recommendations for PHTS require a coordinated multidisciplinary approach and significant patient commitment. The evidence base for cancer surveillance in this guideline are limited, emphasising the need for prospective evaluation of the effectiveness of surveillance in the PHTS population.
F.22 Improvement to existing health/diagnostic methods/procedures
COBISS.SI-ID: 19781123Mutations in BRCA2 cause a higher risk of early-onset aggressive prostate cancer (PrCa). The IMPACT study is evaluating targeted PrCa screening using prostate-specific-antigen (PSA) in men with germline BRCA1/2 mutations. Objective was to report the utility of PSA screening, PrCa incidence, positive predictive value of PSA, biopsy, and tumour characteristics after 3 yr of screening, by BRCA status. Results and limitations: A total of 2932 individuals were recruited (919 BRCA1 carriers, 709 BRCA1 noncarriers, 902 BRCA2 carriers, and 497 BRCA2 noncarriers). After 3 yr of screening, 527 men had PSA ) 3.0 ng/ml, 357 biopsies were performed, and 112 PrCa cases were diagnosed (31 BRCA1 carriers, 19 BRCA1 noncarriers, 47 BRCA2 carriers, and 15 BRCA2 noncarriers). Higher compliance with biopsy was observed in BRCA2 carriers compared with noncarriers (73% vs 60%). Cancer incidence rate per 1000 person years was higher in BRCA2 carriers than in noncarriers (19.4 vs 12.0; p = 0.03); BRCA2 carriers were diagnosed at a younger age (61 vs 64 yr; p = 0.04) and were more likely to have clinically significant disease than BRCA2 noncarriers (77% vs 40%; p = 0.01). After 3 yr of screening, compared with noncarriers, BRCA2 mutation carriers were associated with a higher incidence of PrCa, younger age of diagnosis, and clinically significant tumours. Therefore, systematic PSA screening is indicated for men with a BRCA2 mutation.
F.22 Improvement to existing health/diagnostic methods/procedures
COBISS.SI-ID: 3351419Dr. Nikola Bešič co-organized a professional meeting, which was intended for a wider circle of doctors with diverse expertise. We were acquainted with modern recommendations for the use of amiodarone and iodine contrast agents, which are the most important source of iodine in medicine, and with the recommendations for the treatment of thyroid patients exposed to excessive iodine intake. We gained an accurate insight into drugs that are used in psychiatry and the treatment of epilepsy and significantly contribute to deviations in the results of laboratory measurements of thyroid hormones or even cause thyroid disease. The field of treatment with biological drugs in modern medicine includes a variety of indications from the fields of neurology, dermatology, oncology, internal medicine and other fields. In the final part of the lectures, we also got acquainted with the issue of food supplements, which should not be forgotten due to its widespread and often uncritical use.
B.01 Organiser of a scientific meeting
COBISS.SI-ID: 300221184Dr. Maja Marolt Mušič gave an introductory lecture at the prestigious European conference ECR 2020.
B.04 Guest lecture
COBISS.SI-ID: 43592707Dr. Irena Preložnik-Zupan was the co-organizer of the meeting and co-editor of the proceedings of the online meeting: Diagnosis and therapy of myeloproliferative neoplasms and related hereditary diseases of the association MPN & MPNr-EuroNet.
B.01 Organiser of a scientific meeting
COBISS.SI-ID: 59603203