1. Association between PIK3CA activating mutations and outcomes in early-stage invasive lobular breast carcinoma treated with adjuvant systemic therapyDomen Ribnikar, Valentina Jerič Horvat, Ivica Ratoša, Zachary Veitch, Biljana Grčar-Kuzmanov, Srdjan Novaković, Erik Langerholc, Eitan Amir, Boštjan Šeruga, 2023, original scientific article Abstract: The aim of the study was to evaluate the independent prognostic role of PIK3CA activating mutationsand an association between PIK3CA activating mutations and efficacy of adjuvant endocrine therapy (ET) in patientswith operable invasive lobular carcinoma (ILC).Patients and methods.A single institution study of patients with early-stage ILC treated between 2003 and 2008 wasperformed. Clinicopathological parameters, systemic therapy exposure and outcomes (distant metastasis-free sur-vival [DMFS] and overall survival [OS]) were collected based on presence or absence of PIK3CA activating mutationin the primary tumor determined using a quantitative polymerase chain reaction (PCR)-based assay. An associationbetween PIK3CA mutation status and prognosis in all patient cohort was analyzed by Kaplan-Meier survival analysis,whereas an association between PIK3CA mutation and ET was analyzed in estrogen receptors (ER) and/or progester-one receptors (PR)-positive group of our patients by the Cox proportional hazards model.Results. Median age at diagnosis of all patients was 62.8 years and median follow-up time was 10.8 years. Among365 patients, PIK3CA activating mutations were identified in 45%. PIK3CA activating mutations were not associatedwith differential DMFS and OS (p = 0.36 and p = 0.42, respectively). In patients with PIK3CA mutation each year oftamoxifen (TAM) or aromatase inhibitor (AI) decreased the risk of death by 27% and 21% in comparison to no ET, re-spectively. The type and duration of ET did not have significant impact on DMFS, however longer duration of ET hada favourable impact on OS.Conclusions. PIK3CA activating mutations are not associated with an impact on DMFS and OS in early-stage ILC.Patients with PIK3CA mutation had a statistically significantly decreased risk of death irrespective of whether theyreceived TAM or an AI.
Keywords: invasive lobular carcinoma, PIK3CA mutation, endocrine therapy
Published in DiRROS: 25.07.2024; Views: 214; Downloads: 76
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5. 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: 739; Downloads: 179
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6. 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: 689; Downloads: 180
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7. 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: 623; Downloads: 164
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8. 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: 728; Downloads: 295
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