Faculty of Medicine

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Author: search.filters.author.Filipovski, VanjaStart date: 2023

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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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    DETECTION OF LYNCH SYNDROME IN ENDOMETRIAL CANCER PATIENTS
    (Faculty of Medicine, University Ss. Cyril and Methodius in Skopje, 2023-12-27)
    Kubelka Sabit, Katerina
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    Petrova, Deva
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    Jashar, Dzangis
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    Filipovski, Vanja
    Lynch syndrome (LS) is an autosomal dominant inherited disease defined by germline mutations in mismatch repair (MMR) genes, leading to a defective DNA MMR system. Patients with LS havepredisposition to a spectrum of cancers, primarily colorectal cancer, but LS-associated endometrial cancer (LS-EC) is the most common extraintestinal cancer and occurs in 2% of LS patients. The most frequently mutated MMR genes are MLH1, MSH2, MSH6 and PMS2. Clinico-pathologic features of LS-EC are: early age of onset, lower body mass index, endometrioid type of carcinoma and lower uterine segment involvement. Recent studies support LS screening in every EC patient since MMR status is also part of the molecular subclassification of endometrial cancers.Screening methods include traditional clinical criteria and molecular techniques, such as MMR-immunohistochemistry(MMR-IHC), microsatellite instability (MSI) testing, MLH1promoter methylation testing and gene sequencing. MSI can also be detected in sporadic tumors, through epigenetic events inactivating the MMR system. Patients with diagnosed LS and their affectedrelatives should be closely monitored in order to prevent the development of other types of cancer. Patients with advanced recurrent microsatellite instability-high (MSI-H)/mismatch repair-deficient (dMMR) endometrial cancer can also benefit from immunotherapy.We describe our 3-year experience in screening of Lynch syndrome in EC patients.