Understanding mutations and co-mutations in non-small cell lung carcinoma (NSCLC) is critical to developing personalized treatment strategies. Therefore, this study aims to investigate mutations and the accompanying somatic variations in NSCLC. This retrospective study included 98 patients over 18 years of age who were diagnosed with NSCLC, operated on, and referred to the Molecular Pathology Laboratory between January 2019 and June 2024 for next-generation sequencing panel tests and FISH analysis.
View Article and Find Full Text PDFIntroduction: Absence of mismatch repair (MMR) genes in tumor cells or errors in the replication repair process may lead to DNA-MMR deficiency and microsatellite instability (MSI) formation. Specific tumor environments where gene variations are observed are believed to be conducive to the formation of MSI. This study aimed to determine the MSI status, MMR protein expression, and somatic mutation profile in solid organ tumors.
View Article and Find Full Text PDFIndian J Pathol Microbiol
September 2024
Background: The co-occurrence of lung adenocarcinoma and brain metastasis remains a significant cause of morbidity and mortality despite advancements in cancer treatment. The activity of neurofibromin, the product of Neurofibromatosis Type 1 gene (NF1), is crucial in regulating the RAS/MAPK pathway. The NF1 somatic mutations are significant in conditions such as melanoma, lung cancer, breast cancer, neuroblastoma, and central nervous system tumors.
View Article and Find Full Text PDFBackground: The primary tumor and it's metastases show heterogeneity in molecular studies for targeted therapies in Non-Small Cell Lung Cancer(NSCLC), the leading cause of cancer-related deaths worldwide. The study aimed to identify somatic mutations in biopsies from NSCLC patients' metastatic organs using Next-Generation Sequencing(NGS) and examine their association with clinicopathological parameters.
Materials And Methods: The study included 128 NSCLC patients and, NGS was performed on tumor biopsies from different metastatic organs at Molecular Pathology laboratory of the Department of Medical Pathology in Aydın Adnan Menderes University Faculty of Medicine.
Menopausal status affects the prognoses and consequences of breast cancer. Therefore, this retrospective study aimed to reveal the molecular variation profile differences in breast cancer patients according to their menopausal status, with the hypothesis that the molecular variation profiles will be different at premenopausal and postmenopausal ages. Breast cancer patients ( = 254) who underwent molecular subtyping and QIAseq Human Breast Cancer NGS Panel screening between 2018 and 2022 were evaluated retrospectively.
View Article and Find Full Text PDFBackground: Prostate cancer is a common cancer in males, frequently leading to mortality. Multiple genetic factors play roles in prostate cancer pathogenesis. Demonstration of pathological pathways and customised treatment options have been possible with next-generation sequencing.
View Article and Find Full Text PDFJ Pers Med
January 2024
Malignant diseases occurring in elderly patients follow a different course from younger patients and show different genetic structures. Therefore, in this retrospective study, the somatic gene variant profile and fusion gene profiles of elderly and young acute leukemia patients were determined to draw attention to the existing genetic difference, and the results were compared. In this study, the records of 204 acute leukemia patients aged 18+ who were referred to the Molecular Pathology Laboratory from the Hematology Clinic between 2018 and 2022 were reviewed retrospectively.
View Article and Find Full Text PDFBackground/aims: Recent studies that reveal the molecular profiles of colorectal carcinomas have demonstrated tumor heterogeneity. Characterization of colorectal carcinoma-specific genomic alterations is essential for developing more successful and targeted treat- ment protocols. Moreover, it is vital in elucidating the pathogenesis and mechanisms of resistance against treatment and predicting prognosis.
View Article and Find Full Text PDFObjective: Diffuse large B cell lymphoma (DLBCL) is the most common type of non-Hodgkin lymphoma. Although it is a clinically and biologically heterogeneous disease, it is usually treated with R-CHOP chemotherapy. Here, we aimed to investigate gene expression frequency with next-generation sequencing (NGS) and the relation of gene mutations with remission and relapse status in patients with DLBCLs.
View Article and Find Full Text PDFBackground: Lung cancer is the most common cancer type worldwide, with non-small cell lung cancer being the most frequently studied. Identifying of cancer-related genes in non-small cell lung cancer is crucial for developing individualized treatment, particularly as mutation profiles can vary by country and ethnicity.
Aims: To identify comprehensive mutation profiles in a cohort of Turkish patients with non-small cell lung cancer using the next-generation sequencing.
Aziz Sancar, Nobel Prize winning Turkish scientist, made several discoveries which had a major impact on molecular sciences, particularly disciplines that focus on carcinogenesis and cancer treatment, including molecular pathology. Cloning the photolyase gene, which was the initial step of his work on DNA repair mechanisms, discovery of the "Maxicell" method, explanation of the mechanism of nucleotide excision repair and transcription-coupled repair, discovery of "molecular matchmakers", and mapping human excision repair genes at single nucleotide resolution constitute his major research topics. Moreover, Sancar discovered the cryptochromes, the clock genes in humans, in 1998, and this discovery led to substantial progress in the understanding of the circadian clock and the introduction of the concept of "chrono-chemoterapy" for more effective therapy in cancer patients.
View Article and Find Full Text PDFPurpose: This study aimed to determine the role of vitamin D receptor in the pathogenesis of pterygium. The vitamin D receptor eexpression levels in pterygium tissue, blood vitamin D levels, and frequency of selected vitamin D receptor gene polymorphisms (BsmI, FokI, and TaqI) were compared between patients with pterygium and healthy participants.
Methods: The study included patients with pterygiumeee (n=50) and healthy volunteers (n=50).
Biobanks are units where high quality and long-term protection of biomaterials is maintained. This system, in which biological materials and data are systematically recorded and stored, is a unique resource for the study of the pathophysiology of disease, the development of diagnostic biomarkers, and working with human tissues for the potential discovery of targeted therapeutic agents. At this point, the pathology unit plays a unifying and complementary role between the clinical and core disciplines and offers optimal management of the patients' biomaterials for diagnostic and research projects.
View Article and Find Full Text PDFBackground: Tuberculosis osteomyelitis is rarely seen in the diaphyseal bones. It may be confused with Brodie's abscess due to similar clinical, radiological and laboratory findings. Late diagnosis of the disease causes bone destruction.
View Article and Find Full Text PDFPurpose: Pregnancy-associated breast cancer (PABC) is a rare disease. However, its expected incidence tends to be increased because of delayed maternal age. The purpose of this study was to describe the clinical, radiological, and histopathological characteristics of PABC cases diagnosed in our center.
View Article and Find Full Text PDFGastroenterol Res Pract
February 2019
The prognosis of metastatic gastric cancer is poor. Despite the use of VEGF-, EGFR-, and HER2-targeting agents, prognosis is still poor in advanced gastric cancer. Although cancer immunotherapy responds well in some patients, clinical use is limited due to unanswered patients.
View Article and Find Full Text PDFBackground: Flavonoids have previously been suggested to play a role in wound healing. To date, however, limited information is available on the wound healing effect of kaempferol (KM), which belongs to the class of flavonoids. The objective of this study was to determine the wound healing effects of KM.
View Article and Find Full Text PDFPurpose: We aimed to evaluate the findings and results from breast magnetic resonance imaging (MRI) examinations performed for problem-solving purposes due to inconclusive conventional imaging findings.
Methods: Imaging findings, biopsy and follow-up results were retrospectively evaluated for breast MRI performed for problem-solving purposes at our department between January 2011 and December 2016 for cases whose mammography, tomosynthesis, or ultrasonography findings were inconclusive.
Results: Lesions were identified in 414 of 986 problem-solving MRI examinations, and 13.
Purpose: Bladder tumors are rare in children and adolescents. For this reason, the diagnosis is sometimes delayed in pediatric patients. We aimed to describe the diagnosis, treatment, and follow-up methods of bladder urothelial neoplasms in children and adolescents.
View Article and Find Full Text PDFPurpose: To present a rare, unique, grade III corneal dermoid treated with conservative surgical management.
Methods: An 8-month-old boy was admitted to our clinic with a lesion on the central cornea of the right eye and a corneal mass in the left eye. The mass had a skin-like surface and protruded to the outside of the palpebral fissure.
Colorectal cancer (CRC) is the third most frequent malignancy. Many factors such as NF-κB, matrix metalloproteinase-1 (MMP-1), p53, and Ki-67 are likely to be involved in its development and progression. Lymph node metastases indicate increased tumor burden and tumor cell heterogeneity and affect both the treatment strategies and the prognosis.
View Article and Find Full Text PDFIntroduction: Nonpigmented villonodular synovitis (non-PVNS) is a benign proliferative disease involving the synovium. It is a rare condition that is little recognized. Non-PVNS has been reported as a cause of total knee replacement failure.
View Article and Find Full Text PDFBackground: Clear cell renal cell carcinoma (ccRCC) is the most frequently encountered tumor in the adult kidney. Many factors are known to take part in the development and progression of this tumor. Nuclear factor kappa B (NF-kappaB) is a family of the genes that includes five members acting in events such as inflammation and apoptosis.
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