Prenatal diagnosis of two fetuses with renal structural anomalies caused by 17q12 deletion syndrome / 中华围产医学杂志

Objective@#To analyze the prenatal clinical characteristics and genetic diagnosis of two fetuses with chromosome 17q12 deletion syndrome mainly manifested by renal structural abnormalities.@*Methods@#Clinical data of two pregnant women admitted to Peking University First Hospital in 2017 due to ultrasound indication of fetal kidney structure abnormality in the second trimester were collected. Results of fetal chromosome karyotype analysis and array-based comparative genomic hybridization (aCGH), and aCGH detection of peripheral blood in the two couples were reviewed.@*Results@#(1) In both pregnancies of case 1 and case 2, no abnormal chromosome karyotype was found. In case 2, the fetal fluorescence in situ hybridization (FISH) results showed no abnormality. (2) During the first pregnancy of case 1, there was a 1.351 Mb of single-copy deletion in chromosome 17q12 (34 817 422-36 168 104) and a 1.187 Mb of single-copy duplication in chromosome 3p26.3 (838 934-2 026 269) extracted from umbilical cord blood. Moreover, a 1.299 Mb of single copy duplication in chromosome 3p26.3 (726 645-2 026 269) extracted from maternal peripheral blood was detected. (3) DNA analysis of the umbilical cord blood of case 2 showed a 1.351 Mb of single copy deletion in 17q12. No abnormal copy number variants (CNVs) were detected in the peripheral DNA of the couple.@*Conclusions@#Invasive prenatal detection of CNVs in cases with abnormal fetal kidney ultrasound findings might help to confirm the diagnosis and guide genetic counseling.

Prenatal diagnosis of two fetuses with renal structural anomalies caused by 17q12 deletion syndrome / 中华围产医学杂志

Objective To analyze the prenatal clinical characteristics and genetic diagnosis of two fetuses with chromosome 17q12 deletion syndrome mainly manifested by renal structural abnormalities. Methods Clinical data of two pregnant women admitted to Peking University First Hospital in 2017 due to ultrasound indication of fetal kidney structure abnormality in the second trimester were collected. Results of fetal chromosome karyotype analysis and array-based comparative genomic hybridization (aCGH), and aCGH detection of peripheral blood in the two couples were reviewed. Results (1) In both pregnancies of case 1 and case 2, no abnormal chromosome karyotype was found. In case 2, the fetal fluorescence in situ hybridization (FISH) results showed no abnormality. (2) During the first pregnancy of case 1, there was a 1.351 Mb of single-copy deletion in chromosome 17q12 (34 817 422-36 168 104) and a 1.187 Mb of single-copy duplication in chromosome 3p26.3 (838 934-2 026 269) extracted from umbilical cord blood. Moreover, a 1.299 Mb of single copy duplication in chromosome 3p26.3 (726 645-2 026 269) extracted from maternal peripheral blood was detected. (3) DNA analysis of the umbilical cord blood of case 2 showed a 1.351 Mb of single copy deletion in 17q12. No abnormal copy number variants (CNVs) were detected in the peripheral DNA of the couple. Conclusions Invasive prenatal detection of CNVs in cases with abnormal fetal kidney ultrasound findings might help to confirm the diagnosis and guide genetic counseling.

Prenatal diagnosis of 17q12 microdeletion syndrome in fetal renal abnormalities / 中华妇产科杂志

[Abstrcat] Objectives To analyze 3 cases of 17q12 microdeletion syndrome diagnosed prenatally, and to demonstrate clinical phenotype of the syndrome in prenatal setting.Methods From January 2013 to July 2017,1 370 women received invasive prenatal diagnosis and chromosome microarray analysis(CMA)in Peking Union Medical College Hospital. Among them, 3 fetuses were diagnosed as 17q12 microdeletion syndrome.All 3 cases were low-risk pregnancies.Abnormal structures in fetal kidney were found in all 3 cases, including 1 case of multiple renal cysts,2 cases of bilateral hyperechogenic kidneys.These women accepted invasive prenatal diagnosis followed by karyotyping, parental fluorescence in situ hybridization or CMA validation.Results The second and third trimester ultrasound showed that all 3 fetuses had bilateral renal structural abnormalities, including hyperechogenic kidney, multiple cysts and renal pelvis dilatation. The karyotyping of the 3 fetuses were normal.CMA examination showed that each case had 1.4-1.6 Mb deletion in 17q12 region.Two cases were de novo deletion and 1 case was inherited from the mother who had mild symptoms. The 3 women decided to terminate pregnancies after genetic counseling. Conclusion 17q12 microdeletion syndrome is a recurrent chromosome microdeletion syndrome, and the unique phenotype in prenatal setting is the abnormal structure of bilateral kidneys.A few cases of 17q12 microdeletion syndrome even inherited normally phenotypical parents, and prenatal genetic counseling of 17q12 microdeletion syndrome is relatively difficult.

Impact of polysomy 17 of breast cancer on the testing results of human epidermal growth factor receptor 2 (HER-2) and its clinicopathological significance / 肿瘤

Objective:To investigate the impact of polysomy 17 of breast cancer on testing results of human epidermal growth factor receptor 2 (HER2) and its clinicopathologic significance. Methods:Seventy-one patients with primary invasive breast carcinoma were studied. The HER2 gene and chromosome 17 copy numbers were determined by dual-color fluorescence in situ hybridization (FISH). The testing results were expressed by absolute HER2 gene copy number or the ratio of HER2 to chromosome 17. Based on the FISH testing results and HER2 protein expression determined by immunohistochemistry the results were compared between different groups divided by related clinicopathologic parameters.Results:All patients who had doubtable FISH results, either by absolute HER2 copy number (14 of 71 patients; 19.7%) or by the ratio HER2/chromosome 17 (2 of 71 patients, 2.8%), displayed polysomy 17. Polysomy 17-positive patients had no significant difference with HER2-negative patients in tumor grade, lymph node metastasis, and estrogen receptor (ER) expression (all P>0.05); but compared with HER2-positive patients, they showed lower tumor grade (50.0% vs 81.5%, P=0.025), higher rate of negative lymph node (55.6% vs 25.9%, P=0.045), and higher rate of ER positive expression (83.3% vs 41.7%, P=0.005) and progesterone receptor(PR)positive expression (87.5% vs 44.4%, P=0.003).Conclusion:Compared with HER2 gene amplification group, polysomy 17-positive group tends to have negative HER2 gene expression. Polysomy 17 influences the testing results of HER2 and may be the main factor that caused doubtable results in FISH examination.

Frequency of Loss of Heterozygosity on Chromosome 17 in Intrahepatic Cholangiocarcinoma / 대한소화기학회지

BACKGROUND/AIMS: Intrahepatic cholangiocarcinoma is the second most common intrahepatic neoplasm. Carcinogenesis is believed to be a multistage process that occurs as a result of mutations in oncogenes and tumor suppressor genes. Loss of heterozygosity (LOH) is the phenotype of genetic instability which has been used as a tool for detecting genetic phenotype alterations. Large number of the molecular alterations have been described in human cancer. Among them, that of p53 is quite common. The aim of this study was to determine the frequency of LOH at chromosome 17p related with p53. METHODS: Twenty cases who underwent hepatic resection due to intrahepatic cholangiocarcinoma, were included. LOH was analysed with four microsatellite markers by PCR. For the clinicopathologic parameters, tumor size, differentiation, and metastasis were evaluated. RESULTS: Fifteen patients (75%) showed LOH at one of the loci at the least. Five patients were LOH-high and 10 were LOH-low. The highest frequency of LOH was observed at D17S5 by 38.9%. Those of TP53, D17S796 and D17S513 were 29.4%, 21.4% and 35.3%, respectively. In addition, LOH tended to be more frequent when the tumor is mass forming type, poorly differentiated, or has tumor emboli or vascular invasion. CONCLUSIONS: This study showed that LOH was positive in 75% on chromosome 17p in intrahepatic cholangiocarcinoma which was relatively frequent at D17S5.

The effect of isochromosome 17q presence, proliferative and apoptotic indices, expression of c-erbB-2, bcl-2 and p53 proteins on the prognosis of medulloblastoma

Medulloblastoma accounts for 20 to 25+ACU- of all intracranial neoplasms in children. The significance of the presence of isochromosome 17q (i(17q)), proliferative potential, apoptotic activity, and expression of c-erbB-2, bd-2, and p53 proteins in predicting long-term survival of patients with medulloblastomas was investigated. Twenty children were divided into two groups (favorable and poor outcome groups). Ten children with favorable outcome (FO) were disease-free during the follow-up period (median: 61.5 months). The other ten children with poor outcome (PO) died of disease progression, having a median survival of 18 months. Fluorescent in situ hybridization (FISH) for i(17q), terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), and immunohistochemistry for Ki-67, c-erbB-2, bcl-2, and p53 proteins was performed in these patients. Nine out of 17 children showed i(17q). There was no difference in the rate of positive i(17q) between the FO and PO groups. The presence of i(17q) was not significantly related to biological factors that we investigated. Unlike the prominent presence of the proliferative potential and p53 expression in children with PO, apoptotic activity and expression of c-erbB-2 and bcl-2 had no correlation with the outcome.

The effect of isochromosome 17q presence, proliferative and apoptotic indices, expression of c-erbB-2, bcl-2 and p53 proteins on the prognosis of medulloblastoma

Medulloblastoma accounts for 20 to 25+ACU- of all intracranial neoplasms in children. The significance of the presence of isochromosome 17q (i(17q)), proliferative potential, apoptotic activity, and expression of c-erbB-2, bd-2, and p53 proteins in predicting long-term survival of patients with medulloblastomas was investigated. Twenty children were divided into two groups (favorable and poor outcome groups). Ten children with favorable outcome (FO) were disease-free during the follow-up period (median: 61.5 months). The other ten children with poor outcome (PO) died of disease progression, having a median survival of 18 months. Fluorescent in situ hybridization (FISH) for i(17q), terminal deoxynucleotidyl transferase-mediated dUTP-biotin nick end labeling (TUNEL), and immunohistochemistry for Ki-67, c-erbB-2, bcl-2, and p53 proteins was performed in these patients. Nine out of 17 children showed i(17q). There was no difference in the rate of positive i(17q) between the FO and PO groups. The presence of i(17q) was not significantly related to biological factors that we investigated. Unlike the prominent presence of the proliferative potential and p53 expression in children with PO, apoptotic activity and expression of c-erbB-2 and bcl-2 had no correlation with the outcome.

Identification of Two Microsatellite DNA Markers (Shot Tendem Repeats) on Chormo some 17 in Patients with Psoriasis Vulgaris / 中华皮肤科杂志

Objective To investigate the association of two microsatellite mar kers, D17S784 and D17S928, with psoriasis vulgaris. Methods Fluorescent multiple x PCR, genescaning and GenotypeTM software were employed to amplify the microsat ellite DNA markers and conduct genotyping. Results The significant association w as found between D17S784, D17S928 and psoriasis vulgaris (P

Evidence for high-frequent deletion of p53 gene in primary hepatocellular carcinoma by interphase dual fluorescence in situ hybridization / 中国病理生理杂志

AIM: To investigate the frequency and pattern of deletion of p53 gene in primary hepatocellular carcinoma (HCC) and its clinical significance. METHODS: The interphase dual fluorescence in situ hybridization(FISH) technique was applied to detect loss of p53 gene in HCCs. RESULTS: The deletion of p53 gene was found in 68.0% of HCCs whereas no loss of p53 gene was detected in 40 mated normal liver specimens. Loss of p53 gene was closely related to tumor size and serum ?-fetoprotein(AFP) level in HCC patients ( P 0.05). The 2-year survival rate of postoperative HCC patients was significantly lower in the HCC cases with p53 gene deletion (25.6%) than those without p53 gene loss (69.6%) ( ? 2=11.463, P