ABSTRACT
ABSTRACT Objective: Molecular methods have practical difficulties in identifying sub-groups of diffuse large B-cell lymphoma (DLBCL) in routine clinical practice. The goal of this study was to sub-classify DLBCL patients into sub-groups by immunohistochemical method and to evaluate the effects of sub-groups on prognosis. Methods: For this purpose, the lymph node biopsy specimens of 40 patients with DLBCL have stained with monoclonal antibody immunostains of cluster of differentiation 10, B-cell lymphoma 6 and multiple myeloma oncogene 1 (MUM1). Results: As a result, 6 (15%) patients have germinal centre B-cell like (GCB) phenotype and 34 (85%) patients have non-GCB phenotype. The overall survival (OS) and event-free survival (EFS) was 31.00 ± 15.49 months and 27.66 ± 17.95 months in GCB phenotype, respectively. The OS and EFS were 23.79 ± 17.82 months and 20.97 ± 17.12 months in non-GCB phenotype, respectively. Conclusion: Multiple myeloma oncogene 1 has reached statistical significance among immunostains, and was found negatively correlated with OS and EFS. If these markers are standardized in the future, more accurate treatment schedules will be determined.
Subject(s)
Humans , Male , Female , Adult , Middle Aged , Aged , Aged, 80 and over , Young Adult , Lymphoma, Large B-Cell, Diffuse/diagnosis , Prognosis , Biopsy , Immunohistochemistry , Biomarkers/analysis , Survival Analysis , Prospective StudiesABSTRACT
The aim of this study was to screen the visual system homeobox 1 (VSX1) gene in Turkish patients with keratoconus (KC). The patient group consisted of 44 patients who had undergone corneal transplant surgery before the age of 30, for advanced and rapidly progressive KC. The control group comprised 250 healthy individuals. We detected two missense mutations, D144N and D295Y, in exon 2 and exon 5 of the VSX1 gene, respectively, using next-generation sequencing analysis. The pathologic effects of the D144N and D295Y missense mutations on protein function were determined with bioinformatic analysis tools, SIFT, PolyPhen, and MutationTaster. Aspartic acid at the 144th position was more preserved among species than aspartic acid at the 295th position of the VSX1 protein. In the control group, five different genetic variations were detected, two of which (rs8123716 and rs12480307) were synonymous with variations in the patient group. Our results suggested that the D144N and D295Y mutations might have a role in the pathogenesis of KC disease.