ABSTRACT
Objective:To investigate the value of friend leukemia integration-1 (FLI1) and NKX2.2 in the diagnosis of pediatric extraskeletal Ewing′s sarcoma (E-EWS), and the differential diagnosis of other pediatric small round cell tumors.Methods:Clinical data of children with E-EWS and other small round cell tumors diagnosed in the Department of Pathology of Xi′an Children′s Hospital and Xijing Hospital, Air Forth Medical University from January 2014 to December 2020 were retrospectively analyzed.Expression levels of FLI1 and NKX2.2 were examined by immunohistochemical staining.Results:(1)A total of 27 cases of E-EWS and 145 cases of other small round cell tumors were included, including 40 cases of poorly differentiated and undifferentiated neuroblastoma, 34 cases of rhabdomyosarcoma, 30 cases of metanephric Wilms tumor, 25 cases of lymphoma, 10 cases of malignant rhabdomyosarcoma, 2 cases of myeloid sarcoma, 1 case of desmoplastic small round cell tumor, 1 case of BCOR-rearranged sarcoma, 1 case of CIC-rearranged sarcoma and 1 case of melanotic neuroectodermal tumor of infancy.(2)The sensitivity, specificity, positive and negative predictive value of FLI1 in E-EWS were 88.9%(24/27 cases), 5.5%(8/145 cases), 14.9%(24/161 cases) and 72.8% (8/11 cases), respectively, and those of NKX2.2 in E-EWS were 92.6%(25/27 cases), 97.9%(142/145 cases), 89.3% (25/28 cases) and 98.6%(142/144 cases), respectively.The sensitivity, specificity, positive and negative predictive value of combined FLI1 and NKX2.2 were 85.2%, 97.9%, 88.5%, and 97.3%, respectively.Conclusions:NKX2.2 is sensitive and specific for the differential diagnosis of E-EWS from other pediatric small round cell tumors, showing a high diagnostic utility.FLI1 has high sensitivity but poor specificity for diagnosing E-EWS.The combination of detecting FLI1, NKX2.2 and other antibodies and genetic analysis is recommended to prevent misdiagnosis.
ABSTRACT
Objective To explore the role of microRNA (miR)-22 and miR-1825 in the diagnosis and differential diagnosis of juvenile systemic lupus erythematous (JSLE).Methods The cases of JSLE hospitalized in Capital Institute of Pediatrics Teaching Hospital Affiliated to Peking University from June 2013 to May 2014 were selected as study group.The cases with systemic juvenile idiopathic arthritis (sJIA),nephrotic syndrome (NS),Kawasaki disease (KD),Henoch-Schonlein purpura(HSP) were selected as patients control group.The healthy children were selected as healthy control group.The expression levels of miR-22 and miR-1825 in the plasma of JSLE,sJIA,NS,KD,HSP and healthy children were detected by using real-time PCR respectively.Receiver operating characteristic curve (ROC) analysis was performed to evaluate the value of miR-22 and miR-1825 miRNA as a biomarker with the sensitivity and specificity.Three data bases,included Targetscan,PicTar and miRanda,were applied to predict the target gene.The target gene was analyzed by adopting Gene Ontology (GO) in terms of molecular function,biological process and cellular component,and by adopting Kyoto Encyclopedia of Genes and Genomes (KEGG) in terms of pathway.Results Compared with healthy children,the amount of miR-22 and miR-1825 in JSLE patients were lower,and there were significant differences(t =-3.076,-9.054,P ＜0.01,0.000 1).The levels of the miR-22 and miR-1825 miRNAs in controls of sJIA,NS,KD,HSP were significantly higher than those of JSLE (t =-4.410,-4.477,-4.494,-2.971,all P ＜ 0.000 1;t =-9.043,-6.045,-10.416,-8.712,all P ＜ 0.000 1),but there was no difference compared with healthy children(all P ＞ 0.05).The area under ROC curve(AUC) of miR-22 between JSLE and healthy children was 0.777.The AUC of miR-1825 between JSLE and healthy children was 1.000.The AUCs between JSLE and controls of sJIA,NS,KD,HSP of miR-22 were 0.731-1.000.The AUCs between JSLE and controls of sJIA,NS,KD,HSP of miR-1825 were 0.939-1.000.There was positive relation between the amount of miR-22 and complement C3 in plasma(r =0.493,P =0.027).Conclusions The amount of miR-22 and miR-1825 in the plasma of JSLE embrace the potential of distinguishing JSLE from healthy children,sJIA,NS,KD,HSP.MiR-22 has the ability to predict the activity of JSLE.