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Objective To investigate the clinical manifestations and genetic features of children with papillorenal syndrome caused by PAX2 gene mutation.Methods Clinical manifestations,imaging changes and sequencing data were collected and analyzed from a family with papillorenal syndrome who were diagnosed in Wuhan Children's Hospital in February 2018."PAX2","papillorenal syndrome" and "renal coloboma syndrome" were used as key words to search in China National Knowledge Infrastructure,Wangfang Data Knowledge Service Platform,PubMed and Human Gene Mutation Database up to April 2018.Results A ten years old girl was admitted due to "edema and urine output decreased for one week".Lab showed BUN 25.30 mmol/L,Scr 766.5 μmol/L,Urine protein 3.6 g/24 h.Imaging examination showed bilateral vesical and ureter reflux combined with left duplex kidney and duplication of ureter.Developmental dysplasia of the left hip was also found.The father of the patient had been diagnosed with chronic kidney disease for 10 years and on hemodialysis for 6 years.Next generation sequencing revealed that both the father and daughter carried a heterozygous nonsense mutation in the exon3 c.219C ＞ G(p.Y73X) of PAX2.No Chinese literature ever was reported about papillorenal syndrome.Ninety-four articles in English were retrieved and 177 patients with papillorenal syndrome were confirmed by gene analysis with a total of 92 PAX2 variants.Ten nonsense mutations had been reported.Developmental dysplasia of the hip (DDH) never be reported before.Conclusion Papillorenal syndrome caused by PAX2 mutation can mainly manifest as abnormal development of both kidney and optic nerve,which may be accompanied by other systemic abnormalities,it is rarely reported in China.DDH may be a new phenotype of papillorenal syndrome.
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Objective To investigate the expression of paired box 2 (Pax2) and E-cadherin in human renal cell carcinoma (RCC) and their correlation with clinicopathologic parameters.Methods The RCC tissue microarrays containing 85 renal cell carcinoma specimens and 35 normal kidney tissue specimens were used to detect Pax2 and E-cadherin expressions by immunohistochemistry.Results The positive expression rate of Pax2 was 77.6％ (66/85) in RCC specimens,which was significantly higher than that in 35 normal kidney tissue specimens (P ＜ 0.01).The positive expression rate of E-cadherin was 30.6％ (26/85) in RCC specimens,which was significantly lower than that in 35 normal kidney tissue specimens (P ＜ 0.01).The expression of Pax2 in RCC was significantly related to histological classification and pathological grade (P ＜ 0.05),while it was not related to the size of tumor and clinical stage (P ＞ 0.05).The expression of E-cadherin in RCC was significantly related to the size of tumor,histological classification,pathological grade and clinical stage (P ＜ 0.05).The positive expression rate of E-cadherin in survival group was significantly higher than that in death group (P ＜ 0.05).Conclusions The abnormal expressions of Pax2 and E-cadherin may play a crucial stage in development of human RCC.Detection of the expressions of Pax2 and E-cadherin can be used in the evaluation of malignant degree and prognosis of RCC.
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Objective To explore the origin of ovarian high grade serous carcinoma(HGSC) through analysing the expression and significance of PAX8,PAX2,p53 and RAS in the ovary and fallopian tube of different types and grades of serous carcinoma. Methods A total of 44 cases tissue samples of ovarian tumor including 34 malignant ovarian tumor and 10 normal normal tissue (as control group) were collected from the admitted patients in Affiliated Tumor Hospital of Guangxi Medical University from January 2015 to January 2016. Fallopian tube tissues were segmented in accordance with the fimbria, ampulla, isthmus and the corresponding ovarian tissues were by the side. There were 34 cases of patients with ovarian cancer including 29 cases of epithelial ovarian cancer (27 serous carcinoma, 1 mucinous carcinoma,1 endometrioid adenocarcinoma)and 5 non-epithelial ovarian cancer(sex cord-interstitial tumor). Among 27 cases of patients with ovarian serous cancer,there were 23 HGSC and 4 low-grade ovarian serous cancer (LGSC). One hundred fifty-three cases of samples were diagnosed as ovarian serous cancer by Shandong University Affiliated Qilu Hospital from 2005 to 2013 and these samples were made tissue microarray.(1)To analyze the expression and differences of PAX8,PAX2,p53 and RAS in the above tissues and tissue microarray from ovarian and tubal of HGSC and control women by immunohistochemistry methods.(2)To compare the expression levels of PAX8,PAX2,p53 and RAS in ovarian and fallopian tubes of ovarian cancer patients with different pathological types. (3) To analyze the correlations of tubal and ovarian tissue in PAX8,PAX2,p53 and RAS expression of HGSC.(4)To analyze the factors of the prognosis of ovarian serous cancer in tissue microarray by single factor analysis method. Results (1)PAX8,PAX2, p53 and RAS expression was negative in normal ovarian epithelium of control group,but the expression of PAX8, PAX2, p53 and RAS were strongly positive brown in secrete cells of normal fallopian tube epithelium.(2)p53 and RAS expression of fallopian tube epithelium in the epithelial ovarian cancer group were significantly higher than those in the non-epithelial ovarian cancer groups(P<0.05),but the expression of PAX8 and PAX2 in fallopian tube and the expression of PAX8,PAX2,p53 and RAS in ovarian tissue was not statistically significant in the groups(P>0.05).PAX8,PAX2 and p53 expression of the ovarian in HGSC group were significantly higher than those in LGSC group(P<0.05),while the expression of RAS was lower in the ovarian of the high-grade group (P<0.05), while the expression of PAX8, PAX2, p53 and RAS in fallopian tube was not statistically significant in the groups(P>0.05).(3)There was a significantly positive correlation between fallopian tube and the corresponding ovary of HGSC in PAX8 and PAX2 expression(r=0.422, P=0.045; r=0.693, P=0.000), but not correlation in p53 and RAS expression (r=0.058, P=0.793; r=-0.190,P=0.384).(4)Univariate survival analysis showed that the progression free survival time in patients with ovarian serous cancer group was significantly correlated with the protein expression of PAX8, PAX2 and RAS(P<0.05),but there were not correlated with age,surgical staging,cell differentiation,lymph node metastasis and preoperative chemotherapy and p53 protein expression (P>0.05). The total survival time in patients with ovarian serous cancer group was significantly correlated with the protein expression of PAX8 (P<0.05),but there were not correlated with age,surgical staging,cell differentiation,lymph node metastasis and preoperative chemotherapy and the protein expression of PAX2, RAS and p53 (P>0.05). Conclusions PAX8, PAX2, p53, RAS are of great significance for the study of origin of HGSC. HGSC may be derived from fallopian tube, but further investigation would be necessary to confirm this. PAX8, PAX2, p53, RAS could be expected to be used as predictors of survival prognosis in patients with ovarian serous cancer.