ABSTRACT
Although neuroblastic tumors are the most prevalent solid tumors, little is known about the genetic basis underlying their progression. The prognostic role for the MYCN gene in neuroblastic tumors is irrefutable. The aim of this study is to identify the frequency of MYCN gene amplification and its relationship with clinicopathological and prognostic factors in 40 patients with neuroblastic tumors by using real-time quantitative PCR. There was significant association between the age of older than 18 months and the high number of metastasis. 83.3% of metastatic neuroblastic tumors in patients aged more than 18 months were in stage 4, while it was about 12.5% in patients aged less than 18 months. We found an amplification of MYCN in 19 out of 40 patients. Also, we found MYCN gene amplification in 64% of neuroblastoma (NB) and 8% of gangelioneuroblastoma (GNB) cases. There was a significant association between the histological type of samples with MYCN gene amplification. Neuroblastic tumors have a varied range of MYCN gene amplification depend on histopathology types. No significant associations have been found between MYCN gene amplification and tumor evaluation, CNS involvement, metastasis, stage of disease and patients outcome.
Subject(s)
Gene Amplification/genetics , Neuroblastoma/genetics , Nuclear Proteins/genetics , Oncogene Proteins/genetics , Biomarkers, Tumor , Child , Child, Preschool , Disease Progression , Female , Humans , Infant , Male , N-Myc Proto-Oncogene Protein , Neuroblastoma/mortality , Nuclear Proteins/biosynthesis , Oncogene Proteins/biosynthesis , Polymerase Chain Reaction , PrognosisABSTRACT
Intestinal malrotation is a developmental anomaly affecting the position and peritoneal attachments of the small and large bowels during organogenesis in foetal life. It has been defined as absent or incomplete rotation and fixation of the embryonic gut around the superior mesenteric artery. In the present paper, we review the definition, history, embryology/aetiology, epidemiology, symptoms and signs, diagnosis and treatment of intestinal malformations. Moreover, we report the records of 30 cases of malrotation admitted to our department over a period of five years. The final intraoperative diagnosis of the cases presented was 53.3% pure malrotation, 33.3% malrotation with mid-gut volvulus, 6.7% malrotation with duodenal atresia, 3.3% malrotation with Meckel's diverticulum and duodenal atresia, and 3.3% malrotation and biliary atresia. Preoperative imaging studies were performed for 27 cases and surgical management was successfully conducted without any mortality among the cases studied. This article provides an overview of basic and clinical aspects of intestinal malrotation. In addition, the signs and symptoms, imaging findings, and final intraoperative diagnoses presented by the subjects reported on are of potential use and clinical interest.
Subject(s)
Digestive System Abnormalities/pathology , Digestive System Abnormalities/physiopathology , Intestinal Diseases/pathology , Intestinal Diseases/physiopathology , Intestines/abnormalities , Intestines/physiopathology , Biliary Atresia/pathology , Biliary Atresia/physiopathology , Child, Preschool , Duodenal Obstruction/etiology , Duodenal Obstruction/pathology , Duodenal Obstruction/physiopathology , Duodenum/pathology , Duodenum/physiopathology , Female , Humans , Infant , Infant, Newborn , Intestinal Volvulus/etiology , Intestinal Volvulus/pathology , Intestinal Volvulus/physiopathology , Intestines/blood supply , Male , Meckel Diverticulum/pathology , Meckel Diverticulum/physiopathologyABSTRACT
Cervical lymphadenopathy is a relatively common finding in pediatric age group and is caused by a wide spectrum of diseases from transient infections to malignancies especially lymphomas. The present study was aimed at evaluating the diagnostic performance of grey-scale ultrasonography, color Doppler ultrasonography and power Doppler ultrasonography in differentiation of reactively and metastatically enlarged cervical lymph nodes in pediatric age group. Fifty children with cervical lymphadenopathies were assessed by ultrasonographic methods. In each patient, the longest (L) and transverse (T) diameters, L/T ratio and presence or absence of the normal hilar pattern were checked by grey-scale ultrasonography. Spectral parameters (resistive and pulsatility indices) and vascular distribution pattern of nodes were recorded by color and power Doppler ultrasonography, respectively. Following the ultrasonographic evaluations, biopsy and/or clinical follow up was applied for six months, based on the clinical and paraclinical findings. Statistical analyses were performed by chi-square test, independent t-test and receiver operator characteristic curves. The mean age of patients was 12.42 +/- 2.42 years. Twenty eight patients (56%) had malignant enlargement of lymph nodes. The mean value of L/T ratio in malignant group was 1.70 +/- 0.22 and 2.40 +/- 0.38 in non-malignant nodes (p < 0.001). Sensitivity, specificity and accuracy of combined grey-scale and power Doppler ultrasonography were 70, 86 and 81%, respectively. Combination of grey-scale and power Doppler ultrasonography is recommended for the differentiation between the malignant and benign lymphadenopathies in children. Moreover, our findings revealed no diagnostic role of color Doppler ultrasonography in the selection of malignant cervical lymph nodes in children.