Cooperation of the maxillofacial and plastic surgeon in reconstructive surgical procedures in gunshot injury - a case report.

Lower and middle face defects resulting from gunshot wounds often cause severe functional and cosmetic deformities. The purpose of this case report is to refer to our experiences in the treatment of facial gunshot trauma associated with attempted suicide that resulted in a complex facial injury. The goal of the treatment of complex facial injuries is a proper reconstruction of the hard and soft tissue defects and sufficient rehabilitation of the relevant functions, such as speech, nutrition and appearance. A close cooperation of the maxillofacial and plastic surgeon is essential to achieve a satisfactory outcome.

Detection of driver mutations in FFPE samples from patients with verified malignant melanoma.

Malignant melanoma is an oncological disease characterized by etiologic heterogeneity and it has increasing incidence and mortality in the Slovak Republic. While it is treated surgically in combination with chemotherapy, targeted therapy, and immunotherapy, malignant melanomas can ulcerate and are susceptible to infections. These are highly aggressive cancers with metastasis, and recent studies have shown the presence of mutations in RAC1, PPP6C and STK19 genes in melanoma patients. Mutations in these genes are driver mutations; important in oncogenesis and providing selective advantage to tumor cells. The aim of our study is to establish a method to detect driver mutations in formalin-fixed, paraffin embedded (FFPE) tissue DNA. We applied Sanger sequencing to detect driver somatic mutations in RAC1, PPP6C, STK19 and BRAF genes in patients with malignant melanoma. Confirmation of BRAF V600E mutation was obtained by allele-specific PCR. The BRAF V600E mutation was present in 15 of 113 patients (13.2%) and the driver mutation in 7 of 113 patients (6.2 %). Our results demonstrate that Sanger sequencing analysis detects mutations in FFPE clinical samples. The identification of these somatic driver mutations in samples with verified malignant melanomas enabled development of a molecular classification of melanomas, and our study provides evidence of diversity of novel driver mutations implicated in malignant melanoma pathogenesis. These findings could have very important implications for targeted therapy.