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Query: "author" (Barbara Perić) .

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1.
Medullary thyroid carcinoma and associated endocrinopathies in Slovenia from 1995 to 2021
Sara 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: 40; Downloads: 14
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2.
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: 49; Downloads: 28
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3.
Družinska anamneza kot del celostne obravnave bolnika
Barbara Perić, Ana Blatnik, 2022, published scientific conference contribution

Keywords: družinska ogroženost, dedni raki, genetsko svetovanje, genetsko testiranje
Published in DiRROS: 05.09.2022; Views: 67; Downloads: 38
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4.
Tečaj osnov dermatoskopije za onkologe, Onkološki inštitut Ljubljana, 15.-16. junij 2022
2022, other monographs and other completed works

Keywords: dermatoskopija, koža, struktura kože, klinična praksa
Published in DiRROS: 18.08.2022; Views: 88; Downloads: 32
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6.
Zarodne in somatske mutacije kožnega melanoma : Elektronski vir
Barbara Perić, 2022, published scientific conference contribution

Keywords: melanom, rak kože, mutacije
Published in DiRROS: 08.04.2022; Views: 177; Downloads: 77
.pdf Full text (639,94 KB)

7.
Kirurško zdravljenje nemelanomskega kožnega raka – BCC in SCC : Elektronski vir
Barbara Perić, 2022, published scientific conference contribution

Keywords: melanom, rak kože, kirurgija
Published in DiRROS: 08.04.2022; Views: 145; Downloads: 63
.pdf Full text (523,64 KB)

8.
Melanom in nemelanomski kožni raki : uredniki zbornika Marko Boc ... [et al.]
2022, proceedings of professional or unreviewed scientific conference contributions

Keywords: rak kože, melanom, nemelanomski kožni raki
Published in DiRROS: 08.04.2022; Views: 242; Downloads: 143
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10.
Ploščatocelični rak kože : priporočila za zdravljenje
Barbara Perić, Olga Blatnik, Boštjan Luzar, Jože Pižem, Janja Ocvirk, Marko Hočevar, Primož Strojan, Tomi Bremec, Martina Reberšek, 2020, dictionary, encyclopaedia, lexicon, manual, atlas, map

Keywords: ploščatocelični rak, rak kože, bolniki, zdravljenje
Published in DiRROS: 17.03.2022; Views: 254; Downloads: 135
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