Nörofibromatozis Tip 1 ile İlişkili Tümörlerde C-X-C Kemokin Reseptör Tip 4 Gen İfade Düzeyinin Belirlenmesi

Abstract

Neurofibromatosis type 1 (NF1) is a common genetic disorder that affects skin and nervous system that is inherited in autosomal dominant trait. It occurs due to the mutations in NF1 gene. The most common Schwann cell based tumor type in NF1 patients is neurofibromas, which is categorized into dermal and plexiform neurofibromas. In order to increase the life quality of NF1 patients and find new treatment approaches, new molecules have been investigated, however, there is not a certain treatment protocol. Studies on different tumor types demonstrate that CXCR4 expression is increased in tumor tissues and it is linked to metastasis and progression of cancer. In the present study, we aimed to analyze the CXCR4 expression in human neurofibromas. For this purpose following pathological examination, tumors were co-stained for Schwann cell marker S100 and target molecule CXCR4 antibodies. CXCR4 expression in Schwann cell based tumors, was detected at protein level. In order to investigate the quantitative expression of CXCR4, RNA’s isolated from the same tumors were used for RT-PCR based studies. The results of this experiment in which human Schwann cells was used as control and β-actin was used as a normalizator; showed that CXCR4 gene expression was increased 3 to 120 fold in all tumors with respect to human Schwann cells. These findings are important because of the demonstration of CXCR4 may have a role in human NF1 tumors. In order to validate its certain role in NF1, future studies should be performed with more tumors and different tumor types. When the role of the CXCR4 is definitely confirmed, CXCR4 based treatment strategies may be promising for NF1 patients.