1. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of ageMirjam Cvelbar, Marko Hočevar, Srdjan Novaković, Vida Stegel, Andraž Perhavec, Mateja Krajc, 2017, original scientific article Abstract: In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods. All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results. Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions. The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to all EOC patients younger than 50 years. Regarding clinical data, it is important to perform their re-interpretation in everyday clinical practice, because this may influence therapeutic possibilities to be offered.
Keywords: ovarian cancer, BRCA 1/2, genetic counseling
Published in DiRROS: 24.05.2024; Views: 85; Downloads: 32
 Full text (513,68 KB) |
2. Leiomyosarcoma of the renal vein : analysis of outcome and prognostic factors in the world case series of 67 patientsMarko Novak, Andraž Perhavec, Katherine E. Maturen, Snežana Pavlović Djokić, Simona Jereb, Darja Eržen, 2017, original scientific article Abstract: Background Leiomyosarcoma is a rare malignant mesenchymal tumour. Some cases of leiomyosarcoma of the renal vein (LRV) have been reported in the literature, but no analysis of data and search for prognostic factors have been done so far. The aim of this review was to describe the LRV, to analyse overall survival (OS), local recurrence free survival (LRFS) and distant metastases free survival (DMFS) in LRV world case series and to identify significant predictors of OS, LRFS and DMFS. Methods Cases from the literature based on PubMed search and a case from our institution were included. Results Sixty-seven patients with a mean age of 56.6 years were identified; 76.1% were women. Mean tumour size was 8.9 cm; in 68.7% located on the left side. Tumour thrombus extended into the inferior vena cava lumen in 13.4%. All patients but one underwent surgery (98.5%). After a median follow up of 24 months, the OS was 79.5%. LRFS was 83.5% after a median follow up of 21.5 months and DMFS was 76.1% after a median follow up of 22 months. Factors predictive of OS in univariate analysis were surgical margins, while factors predictive of LRFS were inferior vena cava luminal extension and grade. No factors predictive of DMFS were identified. In multivariate analysis none of the factors were predictive of OS, LRFS and DMFS. Conclusions Based on the literature review and presented case some conclusions can be made. LRV is usually located in the hilum of the kidney. It should be considered in differential diagnosis of renal and retroperitoneal masses, particularly in women over the age 40, on the left side and in the absence of haematuria. Core needle biopsy should be performed. Patients should be managed by sarcoma multidisciplinary team. LRV should be surgically removed, with negative margins.
Keywords: leiomysarcoma, renal vein, surgery, outcomes, prognostic factors
Published in DiRROS: 24.05.2024; Views: 72; Downloads: 57
Full text (458,38 KB)
This document has many files! More... |
3. Axillary ultrasound for predicting response to neoadjuvant treatment in breast cancer patients : a single institution experienceNina Pišlar, Gorana Gašljević, Maja Marolt-Mušič, Simona Borštnar, Janez Žgajnar, Andraž Perhavec, 2023, original scientific article Keywords: breast cancer, neoadjuvant treatment, surgical treatment
Published in DiRROS: 18.04.2024; Views: 130; Downloads: 91
Full text (1015,10 KB)
This document has many files! More... |
4. |
5. |
6. |
7. |
8. |
9. |
10. Programske smernice DORAMateja Kurir-Borovčić, Amela Duratović Konjević, Katja Jarm, Katarina Nagode, Maksimiljan Kadivec, Zvonka Kastelic, Veronika Kutnar, Andraž Perhavec, Barbara Skubic-Vengušt, Stanka Sabo, Špela Sitar, Stančka Suljić, Cveto Šval, Anastazija Šelih, Vesna Škrbec, Miloš Vrhovec, Sonja Tomšič, Katarina Torkar, Urban Zdešar, Kristijana Hertl, 2022, professional monograph Abstract: Državni presejalni program za raka dojk DORA (v nadaljevanju: program DORA) vabi ženske med 50. in 69. letom vsaki dve leti na presejanje z mamografijo, katerega cilj je zmanjšati umrljivost za rakom dojk v ciljni populaciji za 25 do 30 odstotkov. Nosilec programa DORA je Onkološki inštitut Ljubljana. Presejalno mamografijo opravlja 16 javnih zdravstvenih zavodov po Sloveniji na 20 digitalnih mamografih s kadri, ki so za svoje delo posebej usposobljeni. Dodatno diagnostiko in zdravljenje raka dojk, odkritega v presejanju, izvajata presejalno-diagnostična centra na Onkološkem inštitutu Ljubljana in v Univerzitetnem kliničnem centru Maribor. Te programske smernice opredeljujejo presejalno politiko programa DORA, postopek obravnave žensk, organizacijo in dejavnosti programa DORA. Delijo se na upravljalske, zdravstvene in druge storitve. Sestavni del teh programskih smernic je tudi določitev strokovnega nadzora, ki se opravlja v presejalnem programu, ter podrobnejši Standardni operativni postopki (SOP) delovanja programa DORA. Sestavni del tega dokumenta so tudi Protokoli in priloge.
Keywords: rak dojke, programske smernice, presejalni programi, svetovanje
Published in DiRROS: 08.12.2022; Views: 645; Downloads: 276
Full text (328,03 KB)
This document has many files! More... |
