The NF1 gene mutations and co-mutations in lung adenocarcinomas with brain metastasis.

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.

Clinicopathological significance of mutation profile detected by next generation sequencing in different metastatic organs of non-small cell lung cancers.

Background: 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.

Frequency of thiopurine S-methyltransferase gene variations in Turkish children with acute leukemia.

Akın DF, Aşlar-Öner D, Kürekçi E, Akar N. Frequency of thiopurine S-methyltransferase gene variations in Turkish children with acute leukemia. Turk J Pediatr 2018; 60: 147-152.

Screening of Variations in CD22 Gene in Children with B-Precursor Acute Lymphoblastic Leukemia.

Background: CD22 is expressed on the surface of B-cell lineage cells from the early progenitor stage of pro-B cell until terminal differentiation to mature B cells. It plays a role in signal transduction and as a regulator of B-cell receptor signaling in B-cell development.

Objectives: We aimed to screen exons 9-14 of the CD22 gene, which is a mutational hot spot region in B-precursor acute lymphoblastic leukemia (pre-B ALL) patients, to find possible genetic variants that could play role in the pathogenesis of pre-B ALL in Turkish children.

Factor V Leiden and Prothrombin 20210A Mutations among Turkish Pediatric Leukemia Patients.

This study was undertaken to determine the prevalence of the Factor V 1691 G-A and PT 20210 G-A mutations in Turkish children with leukemia. We genotyped 135 pediatric leukemia patients with for these mutations. Eleven (8%) of the 135 patients were heterozygous for the FV 1691 G-A mutation.