1. Kirurško zdravljenje nemelanomskega kožnega raka : BCC in SCCBarbara Perić, 2023, published scientific conference contribution Abstract: Osnovno zdravljenje nemelanomskih kožnih rakov je kirurški poseg. Izrez kože s tumorjem v lokalni anesteziji še vedno predstavlja zdravljenje, ki zagotavlja življenje z majhnim tveganjem za ponovitev bolezni. Da bi to zagotovili, moramo ob tumorju odstraniti tudi ustrezen pas zdrave kože v skladu s priporočili za posamezno vrsto nemelanomskega kožnega raka in mesto, kjer se ta nahaja. Vedno stremimo k primarnemu zaprtju nastalega defekta kože. Nemelanomski kožni raki redko zasevajo, ko odkrijemo regionalne zasevke teh rakov, sprva opravimo disekcijo bezgavk prizadete lože. Le redko je potrebno pri kirurškem zdravljenju lokoregionalno napredovale bolezni poseči po metodah kot so hipertermična izolirana ekstremitetna perfuzija uda ali elektrokemoterapija.
Keywords: rak kože, melanom, kirurško zdravljenje
Published in DiRROS: 18.05.2023; Views: 160; Downloads: 77
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2. Zarodne in somatske mutacije kožnega melanomaBarbara Perić, 2023, published scientific conference contribution Abstract: Vsaka celica telesa ima svoj lasten genski zapis. Kakšen je ta zapis in kako se prevede v beljakovine je odvisno od zarodnih sprememb genov in od vplivov okolja. Genski zapis je osnova za nastanek, razumevanje in dandanes tudi zdravljenje raka. V zadnjih dveh desetletjih so bili melanociti in kožni melanom, ki nastane iz njih predmet številnih molekularnogenetskih raziskav. Tako vemo, da med osebami z družinsko obremenitvijo za kožni melanom najpogosteje odkrijemo patogeno različico CDKN2A gena ob kateri je zvišano tako tveganje za kožni melanom kot za rak trebušne slinavke. Ko govorimo o somatskih mutacijah, je gotovo najbolj znana BRAFV600Emutacija, ki predstavlja enega prvih dogodkov v patogenezi kožnih melanomov nastalih na intermitentno soncu izpostavljeni koži. Leta raziskav tovrstnih gonilnih mutacij so pripeljala tudi do razvoja tarčne terapije.
Keywords: rak kože, melanom, kožni melanom
Published in DiRROS: 16.05.2023; Views: 184; Downloads: 65
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3. Combination of pembrolizumab with electrochemotherapy in cutaneous metastases from melanoma : a comparative retrospective study from the InspECT and Slovenian Cancer RegistryLuca Giovanni Campana, Barbara Perić, Matteo Mascherini, Romina Spina, Christian Kunte, Erika Kis, Petra Rozsa, Pietro Quaglino, Maja Čemažar, Maša Bošnjak, Gregor Serša, 2021, original scientific article Abstract: Electrochemotherapy (ECT) is an effective locoregional therapy for cutaneous melanoma metastases and has been safely combined with immune checkpoint inhibitors in preliminary experiences. Since ECT is known to induce immunogenic cell death, its combination with immune checkpoint inhibitors might be beneficial. In this study, we aimed to investigate the effectiveness of ECT on cutaneous melanoma metastases in combination with pembrolizumab. We undertook a retrospective matched cohort analysis of stage IIIC%IV melanoma patients, included in the International Network for sharing practices of ECT (InspECT) and the Slovenian Cancer Registry. We compared the outcome of patients who received the following treatments: (a) pembrolizumab alone, (b) pembrolizumab plus ECT, and (c) ECT. The groups were matched for age, sex, performance status, and size of skin metastases. The local objective response rate (ORR) was higher in the pembrolizumab-ECT group than in the pembrolizumab group (78% and 39%, p < 0.001). The 1 year local progression-free survival (LPFS) rates were 86% and 51% (p < 0.001), and the 1 year systemic PFS rates were 64% and 39%, respectively (p = 0.034). The 1 year overall survival (OS) rates were 88% and 64%, respectively (p = 0.006). Our results suggest that skin-directed therapy with ECT improves superficial tumor control in melanoma patients treated with pembrolizumab. Interestingly, we observed longer PFS and OS in the pembrolizumab-ECT group than in the pembrolizumab group. These findings warrant prospective confirmation.
Keywords: electrochemotherapy, metastatic melanoma, skin metastases
Published in DiRROS: 10.10.2022; Views: 325; Downloads: 166
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4. Medullary thyroid carcinoma and associated endocrinopathies in Slovenia from 1995 to 2021Sara Milićević, Mateja Krajc, Ana Blatnik, Barbara Perić, 2022, original scientific article Abstract: Background: Medullary thyroid cancer (MTC) is a rare endocrine tumour that is sporadic in 75% of cases and occurs as a part of inherited cancer syndromes in approximately 25% of cases. The aim of this study was to determine the frequency and type of RET pathogenic variants (PVs) in the Slovenian MTC patient population diagnosed between 1995 and 2021 and to elucidate the full range of associated endocrinopathies. Methods: A retrospective analysis of medical records of 266 MTC patients and their relatives seen in a tertiary centre between 1995 and 2021 was performed. Sequence analysis of exons 10, 11, 13, 14, 15, and 16 of the RET gene was analysed in most patients using Sanger sequencing. From 2017, the entire sequence of RET gene was analysed in most patients using targeted next-generation sequencing. Results: Germline PVs in the RET proto-oncogene were identified in 21.6% probands from 21 different MTC families. Of their tested relatives, 65% (67/103) were RET-positive and 35% (36/103) were RET-negative. PVs were detected in codon 618 and codon 634 in 28.6%, and in codon 790 in 23.8%. The RET-positive group consisted of 52 MTC patients, 13 patients with C cell hyperplasia and 2 individuals with neither. Associated endocrinopathies were diagnosed in 8/21 families: primary hyperparathyroidism (PHPT) in six families and pheochromocytoma (PHEO) in five families. In 62% of RET-positive families (13/21), no associated endocrinopathies were diagnosed. PHEO was most commonly associated with C634R (6/13) and PHPT with C634R (4/7). Hirschsprung’s disease appeared in one patient with RET PV in codon 618. Based on data from the Cancer Registry of Republic of Slovenia, only individual cases of common cancers with well understood environmental risk factors were discovered; lung cancer in 2/21 of families, papillary thyroid cancer in 3/21 of families, cutaneous melanoma in 2/21 of families, cervical cancer in 1/21 families, and lymphoma in 1/21 families. Conclusions: Analysis of prospectively collected MTC cases during a 27-year period revealed that 21.6% of Slovenian patients are RET PV carriers. Sixty-two percent of families had none of the associated endocrinopathies, confirming the thesis that FMTC is the most common presentation. This could suggest using risk-stratified management approaches when screening for PHEO and PHPT in RET PV carriers. However, more studies are needed to evaluate potential genetic risk modifiers as well as safety, improved quality of life, and medical cost reduction in the case of a patient-oriented approach.
Keywords: medullary thyroid carcinoma, multiple endocrine neoplasia, primary hyperparathyroidism
Published in DiRROS: 23.09.2022; Views: 395; Downloads: 186
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5. BAP1-defficient breast cancer in a patient with BAP1 cancer syndromeAna Blatnik, Domen Ribnikar, Vita Šetrajčič Dragoš, Srdjan Novaković, Vida Stegel, Biljana Grčar-Kuzmanov, Nina Boc, Barbara Perić, Petra Škerl, Gašper Klančar, Mateja Krajc, 2022, original scientific article Abstract: BAP1 cancer syndrome is a rare and highly penetrant hereditary cancer predisposition. Uveal melanoma, mesothelioma, renal cell carcinoma (RCC) and cutaneous melanoma are considered BAP1 cancer syndrome core cancers, whereas association with breast cancer has previously been suggested but not confirmed so far. In view of BAP1 immunomodulatory functions, BAP1 alterations could prove useful as possible biomarkers of response to immunotherapy in patients with BAP1-associated cancers. We present a case of a patient with BAP1 cancer syndrome who developed a metastatic breast cancer with loss of BAP1 demonstrated on immunohistochemistry. She carried a germline BAP1 likely pathogenic variant (c.898_899delAG p.(Arg300Glyfs*6)). In addition, tumor tissue sequencing identified a concurrent somatic variant in BAP1 (partial deletion of exon 12) and a low tumor mutational burden. As her triple negative tumor was shown to be PD-L1 positive, the patient was treated with combination of atezolizumab and nab-paclitaxel. She had a complete and sustained response to immunotherapy even after discontinuation of nab-paclitaxel. This case strengthens the evidence for including breast cancer in the BAP1 cancer syndrome tumor spectrum with implications for future cancer prevention programs. It also indicates immune checkpoint inhibitors might prove to be an effective treatment for BAP1-deficient breast cancer.
Keywords: BAP1, breast cancer, hereditary cancer syndromes, immunotherapy
Published in DiRROS: 19.09.2022; Views: 326; Downloads: 130
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8. Posodobljena priporočila diagnostike in zdravljenja diferenciranega raka ščitniceNikola Bešić, Alenka Grošel, Andraž Perhavec, Andrej Doma, Andreja A. Schwarzbartl-Pevec, Andreja Klevišar Ivančič, Andrej Vogrin, Barbara Vidergar-Kralj, Barbara Gazić, Barbara Perić, Blaž Krhin, Cvetka Grašič-Kuhar, Edvard Pirnat, Ivana Žagar, Jerca Blazina, Katarina Zevnik, Katica Bajuk-Studen, Katja Zaletel, Margareta Strojan Fležar, Marko Hočevar, Marko Kokalj, Marta Dremelj, Nebojša Glumac, Olga Blatnik, Simona Gaberšček, Snežana Pavlović Djokić, Ulrika Klopčič, Veronika Kloboves-Prevodnik, Zorica Čekić, 2022, professional article Keywords: rak ščitnice, diferencirani rak, zdravljenje, smernice
Published in DiRROS: 01.07.2022; Views: 576; Downloads: 191
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