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Query: "author" (Biljana Grčar-Kuzmanov) .

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Ali visoko maligni B-celični limfomi, dvojni ekspresorji, res potrebujejo intenzivnejšo kemoterapijo
Lučka Boltežar, Samo Rožman, Gorana Gašljević, Biljana Grčar-Kuzmanov, Barbara Jezeršek Novaković, 2023, published scientific conference contribution

Abstract: Velikocelični B limfomi z BCL2 in BCL6 preureditvijo so imenovani "double-hit" oziroma "triplehit" limfomi, z imunohistokemično ekspresijo pa dvojni ekspresorji (DE) in vsi imajo slabšo prognozo od klasičnih velikoceličnih limfomov B. Opravljena je bila študija vseh bolnikov z visoko malignimi B limfomi in difuznim velikoceličnim limfomom B, zdravljenih na Onkološkem inštitutu Ljubljana med leti 2017 in 2021. Večina izmed 154 vključenih bolnikov je bila zdravljenih z R-CHOP terapijo (rituksimab, ciklofosfamid, doksorubicin, vinkristin in prednizon), mediani čas spremljanja bolnikov je bil 22 mesecev. 110 bolnikov (71,4 %) ni imelo ponovitve bolezni v opazovanem obdobju. V primerjavi štirih uporabljenih terapevtskih protokolov v skupini DE nismo našli razlik v preživetju (p < 0,712). Preživetje bolnikov z "double-hit" in "triple-hit" limfomi je bilo, pričakovano, slabo. Naši podatki kažejo, da je velik del bolnikov z DE, zdravljen z R-CHOP in standardno CŽS profilakso, tudi uspešno ozdravljen. Za potrditev naših izsledkov so potrebne večje randomizirane raziskave.
Keywords: limfomi, kemoterapija, onkološko zdravljenje
Published in DiRROS: 16.06.2023; Views: 311; Downloads: 121
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BAP1-defficient breast cancer in a patient with BAP1 cancer syndrome
Ana 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: 412; Downloads: 169
.pdf Full text (1,12 MB)

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