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2. Pomen PIK3CA aktivirajočih mutacij za izid bolezni pri bolnicah z invazivnim lobularnim karcinomom dojke, zdravljenih z dopolnilno endokrino terapijoDomen Ribnikar, Valentina Jerič Horvat, Ivica Ratoša, Zachary Veitch, Biljana Grčar-Kuzmanov, Srdjan Novaković, Erik Langerholc, Maja Pohar Perme, Eitan Amir, Boštjan Šeruga, 2022, published professional conference contribution abstract Keywords: onkologija, rak dojke, kemoterapija
Published in DiRROS: 27.01.2023; Views: 245; Downloads: 76
 Full text (46,13 KB) |
3. Vpliv opustitve dopolnilne kemoterapije na preživetje bolnic z zgodnjim ER+/HER2+ rakom dojkValentina Jerič Horvat, Damjan Manevski, Barbara Gazić, Primož Drev, Domen Ribnikar, Erika Matos, Boštjan Šeruga, 2022, published professional conference contribution abstract Keywords: onkologija, rak dojke, kemoterapija
Published in DiRROS: 27.01.2023; Views: 243; Downloads: 69
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4. Pljučna toksičnost pri sistemskem zdravljenju rakaDaša Bosilj, Dimitar Stefanovski, Domen Ribnikar, 2022, published scientific conference contribution Abstract: Pljučna toksičnost se lahko pojavlja pri sistemskem zdravljenju s klasičnimi kemoterapevtiki, tarčnimi zdravili in imunoterapijo. Opisanih je več kliničnih sindromov pljučne toksičnosti, najpogosteje govorimo o intersticijskem pneumonitisu. Diagnoza je radiološka in izključitvena. V primeru pljučne toksičnosti je potrebna začasna ali trajna prekinitev zdravljenja, v hujših primerih je indicirano zdravljenje s kortikosteroidi.
Keywords: neželeni učinki, bolniki, sistemsko zdravljenje
Published in DiRROS: 17.01.2023; Views: 278; Downloads: 63
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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: 332; Downloads: 133
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