Faculty of Medicine

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Author: search.filters.author.Jasar, DzengisHas files: Yes

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    Gallbladder and gastric metastasis as initial presentation of an undiagnosed primary lobular breast carcinoma
    (Oxford University Press (OUP), 2026-02-24)
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    Ivkovska, Sanja
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    Filipovski, Vanja
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    Kubelka Sabit, Katerina
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    Jasar, Dzengis
    The 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.
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    The highest frequency of BRCA1 c.3700_3704del detected among Albanians from Kosovo
    (Greater Poland Cancer Centre, Poland, 2022)
    Kostovska Maleva, Ivana
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    Jakovchevska, Simona
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    Özdemir, Milena Jakimovska
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    Kiprijanovska, Sanja
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    Kubelka-Sabit, Katerina
    Background: 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.