Faculty of Medicine
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Item type:Publication, Gallbladder and gastric metastasis as initial presentation of an undiagnosed primary lobular breast carcinoma(Oxford University Press (OUP), 2026-02-24); ;Ivkovska, Sanja ;Filipovski, Vanja ;Kubelka Sabit, KaterinaJasar, DzengisThe most common sites for breast cancer metastases include the bones, lungs, liver, and brain. Metastases in the GI tract are rare and predominantly originate from lobular breast cancer. Gastric involvement by invasive lobular carcinoma (ILC) is rare and can mimic primary gastric malignancies, leading to diagnostic challenges. Metastasis of ILC to the gallbladder is exceedingly rare and often identified incidentally during cholecystectomy performed for presumed benign conditions. We present a case of a 62-year-old female patient with symptoms of weight loss and dysphagia. After CT and gastroscopy, gastrectomy and cholecystectomy were performed due to suspicion of gastric carcinoma. Histology and immunohistochemical profiling, with estrogen receptor (ER), progesterone receptor (PR), E-cadherin, GATA3, Mammaglobin, and GCDFP-15, favored the diagnosis of lobular breast carcinoma metastasis over primary gastric adenocarcinoma. Awareness of these atypical presentations is crucial for accurate diagnosis and effective management, as misdiagnosis can result in suboptimal treatment strategies. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo(Greater Poland Cancer Centre, Poland, 2022) ;Kostovska Maleva, Ivana ;Jakovchevska, Simona ;Özdemir, Milena Jakimovska ;Kiprijanovska, SanjaKubelka-Sabit, KaterinaBackground: The spectrum of BRCA1 and BRCA2 mutations varies among populations; however, some mutations may be frequent in particular ethnic groups due to the “founder” effect. The c.3700_3704del mutation was previously described as a recurrent BRCA1 variant in Eastern European countries. This study aimed to investigate the frequency of c.3700_3704del BRCA1 mutation in Albanian breast and ovarian cancer patients from North Macedonia and Kosovo. Materials and methods: A total of 327 patients with invasive breast and/or ovarian cancer (111 Albanian women from North Macedonia and 216 from Kosovo) were screened for 13 recurrent BRCA1/2 mutations. Targeted NGS with a panel of 94 cancer-associated genes including BRCA1 and BRCA2 was performed in a selected group of 118 patients. Results: We have identified 21 BRCA1/2 pathogenic variants, 17 (14 BRCA1 and 3 BRCA2) in patients from Kosovo (7.9%) and 4 (1 BRCA1 and 3 BRCA2) in patients from North Macedonia (3.6%). All BRCA1/2 mutations were found in one patient each, except for c.3700_3704del BRCA1 mutation which was observed in 14 unrelated families, all except one originating from Kosovo. The c.3700_3704del mutation accounts for 93% of BRCA1 mutation positive cases and is present with a frequency of 6% among breast cancer patients from Kosovo. Conclusions: This is the first report of BRCA1/2 mutations among breast and ovarian cancer patients from Kosovo. The finding that BRCA1 c.3700_3704del represents a founder mutation in Kosovo with the highest worldwide reported frequency supports the implementation of fast and low-cost screening protocol, regardless of the family history and even a pilot population-based screening in at-risk population. - Some of the metrics are blocked by yourconsent settings
Item type:Publication, Expression of p53 Protein Product in Triple Negative Breast Cancers and Relation with Clinical and Histopathological Parameters(Walter de Gruyter GmbH/Macedonian Academy of Sciences and Arts, 2015-05-01) ;Jasar, Dzengis; ;Kubelka, Katerina ;Filipovski, Vanja<jats:title>Abstract</jats:title><jats:p>Introduction: "Triple" negative breast cancer is a subgroup of so-called basal-like breast cancer. They are represented with 15% of all breast cancers, characterized with lack of hormone receptor as well as with negative expression of HER2 test. These tumors are more frequent in Afro-Americans and Latin-Americans, in patients with BRCA1 mutations and in patients with recent delivery. The aim of this study is to present the immunohistochemical and clinico-pathological characteristics of the triple negative breast cancer and their correlation with expression of the protein product of the tumor suppressor gene p53.</jats:p><jats:p>Methods: A retrospective analyses of 24 patients with triple negative breast cancer was performed. All of the patients were evaluated in the Histopathological Laboratory of the Clinical Hospital Sistina, during the period from June 2009, until June 2011. The standard immunohistochemical procedures, including the hormone receptor status, HER2 status, proliferative index - Ki67 and p53 gene protein product were performed, as well as additional immunohistochemical staining for socalled basal keratins (Cytokeratin 5/6 and high molecular weight cytokeratin 34BE12).</jats:p><jats:p>Results: The age of the patients ranged from 29-77 years. Positive lymph nodes were found in 14 (59%) patients. The tumor was poorly differentiated in 19 patients (79%). Overexpression of the p53 protein product was evaluated in 19 (79%) of the cases. All p53 negative patients (5/5) had poorly differentiated tumors (G3), associated with positive regional lymph nodes. The p53 positive group expressed quite opposite correlation, only 9/19 (47%) were with positive lymph nodes (p = 0.03). The expression of p53 protein product was also associated with the nuclear grade (p = 0.005), the mitotic index (p = 0.001), lymph-vascular invasion (p = 0.005) and with the proliferation index Ki67 (p = 0.003). There was a trend for association with the tumor size - pT (p = 0.05).</jats:p><jats:p>Conclusion: According to the results, the triple negative breast cancers are subgroup of the poorly differentiated neoplasms frequently associated in the younger age groups. The majority of these have overexpression of the p53 protein product, which in other hand, are inversely correlated with lymph nodes metastases. Hence, the necessity of enriching the immunohistochemical protocol of these patients with new antibodies, in order to evaluate their expression, which would be helpful for prediction the outcome of different therapeutical modalities.</jats:p>
