Peripheral nerve sheath tumors may occur sporadically or related to neurofibromatosis (NF). Unless the mechanisms of tumorigenesis in NF related malignant peripheral nerve sheath tumors (MPNST) are better understood, it remained unclear in sporadic cases. We aimed to investigate the genetic route for malignancy in both individuals with NF‐1 and sporadic ones to open a way for targeted therapies in the future. We investigated the role of HER2 with Dual ISH DNA Probe Cocktail test, BRAF mutation (exon 15) and TERT promoter mutation frequency with Sanger sequencing method in respectively 25 sporadic neurofibromas, 25 NF‐1 related neurofibromas and 25 MPNST cases from two institutes. Categorical data were analyzed and summarized as frequency and percentage. Statistical analysis was done with SPSS v.22 statistical package, and the statistical significance level was considered as 0.05. We identified TERT promoter mutation only in one sporadic MPNST (4%) and no BRAF mutation in any case. HER2 amplification is found in 10/25 (40%) MPNST cases. No mutations or gene amplification detected in neurofibromas (p < 0.001). MPNSTs are sarcomas with poor prognosis and limited treatment options. TERT promoter mutations and HER2 amplification may play a putative role in therapeutic purposes.
Introduction: CD123-positive plasmacytoid dendrocytes are prominent in the infiltrate of cutaneous lupus erythematous. Aim: To determine the significance of the CD123 immunostain, which labels plasmacytoid dendritic cells (PDC), in cutaneous lupus erythematous (CLE), polymorphous light eruption (PLE), pityriasis rosea (PR) and mycosis fungoides (MF). Material and methods: A total of 76 cases, including MF (n = 27), CLE (n = 19), PR (n = 19), and PLE (n = 11), were included in the study after reviewing their diagnostic clinical features and pathologic findings. The primary antibody against CD123 was performed in all cases. Results: CD123+ immunostaining in PDCs was positive in all cases. The highest mean percentage was noted in CLE (15.2%), followed by PLE (15%), PR (8.8%), and MF (2%). Besides, the clustering of CD123-positive cells was significant in CLE and PLE compared to MF and PR. Conclusions: PDC may have an important role in the aetiology of PLE and CLE cases. CD123 is a useful marker for differentiating CLE and PLE from MF and PR.
Basal cell carcinoma (BCC) is the most common malignant tumor in humans. It can be seen anywhere in the skin, although more than 80% occurs in areas exposed to the sun, such as the head and neck. Chronic exposure to sunlight is thought to be the main etiological factor. Although the risk of metastasis in BCC is very low, the tumor may be locally aggressive and cause tissue destruction. We present three cases of BCC in atypical locations, the waist region, the lateral femoral region, and the perineal region. No predisposing factor in terms of etiology of BCC was encountered in these patients' histories. We are presenting our cases, together with a discussion of the current literature, to emphasize that BCC should be considered even in atypically located lesions.
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