A retrospective descriptive study about the presence of metastases, epidemiological characteristics and treatment of 104 patients suffering from gestational trophoblastic disease was performed in the period from 1st Jan, 2000 to 31st December, 2010. Of eleven patients who were found to have metastases (10.6%), 72.7% had pulmonary metastases, 27.3 had vaginal, and one patient had both pulmonary and brain metastases. The average age was 33.9. Antecedent molar pregnancy was recorded in 63.6% patients. Invasive mole was more frequent than choriocarcinoma (63.6%). According to the World Health Organization criteria, 7 patients (63.6%) had high risk score (the average World Health Organization score was 8.4). All patients were treated by chemotherapy, the average number of courses being 1.8. Complete remission was achieved in all patients. Treatment of metastatic disease depends on multiple factors. However, combined chemotherapy is the universally accepted treatment. If chemotherapy is individualized and applied on time, the prognosis is good, even in cases with cerebral metastases.
BackgroundNeurofibromatosis type 1 (NF1) is a genet-ic disorder that affects the growth and development of nerve cell tissue, with subsequent development of mul-tiple benign tumours of the nervous system and the skin, as well as the areas of abnormal skin colour and other clin-ical manifestations. Our study aimed to examine the in-cidence of clinical features and diagnostic parameters of NF1, as well as to identify the current therapeutic options.MethodsWe analysed retrospectively the medical doc-umentation of the patients of the Clinic of Neurology and Psychiatry for Children and Youth in Belgrade, in the peri-od from 2003–2016, fulfilling clinical diagnostic criteria for NF1. In addition to demographic data, the clinical mani-festations were obtained based on diagnostic criteria, ad-ditional clinical manifestations and supplementary diag-nostic tests. In statistical analysis, we used the methods of descriptive statistics, χ² and Mann-Whitney test. In order to identify the current treatment for the NF1, we analysed the recent pharmacological data, as well as the clinical tri-als registered in the ClinicalTrials.gov registry.ResultsThe study group consisted of 65 patients (35 males/30 females) up to 18 years old at the first exam-ination. Multiple café au lait spots (patches of tan or light brown skin) were present in all patients (65, 100%). The frequency of axillary and inguinal freckles and Lisch nodules were 70.8% and 61.5%, respectively, while neu-rofibromas (cutaneous, subcutaneous and plexiform) were present in 66.2% of patients. Glioma optic pathway (GOP) was present in 13.2%, pathological findings of visu-al evoked potentials (VEP) were recorded in one third of patients, epilepsy with 10.8% and pathological electroen-cephalographic (EEG) patterns were described at 27.7% patients. Unidentified bright objects (UBO) on the MRI were described in 50.0% of patients, with no statistical dif-ferences regarding to the age of patients (p=0.635). Char-acteristic bone lesions were diagnosed in 27.7% patients, and positive family history was in 63.1%. Mental disorders and learning disabilities were diagnosed in 26.2% of patients. Furthermore, there was no correlation between the appearance of axillary/inguinal spots and Lisch nod-ules regarding to the age of patients (p=0.419; p=0.521, respectively); however, there was a statistically significant correlation between GOP and VEP (p=0.003). The current NF1 treatment includes the symptomatic therapy, includ-ing surgery and chemotherapy, while the specific treat-ment is not available yet. A total of 122 clinical trials were identified in the ClinicalTrials.gov registry; however, there are only few, phase 2, interventional studies in children: with mTOR inhibitors (sirolimus and everolimus) and RAS kinase inhibitor (tapifarnib).ConclusionNF1 is a multi-system disease that requires multidisciplinary approach and monitoring. The wide range of clinical features, inability to predict the severity of features/complications and limited therapeutic options make NF1 management a r...
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