Humans ; Lung Neoplasms/pathology* ; Adenocarcinoma/pathology* ; Papilloma/genetics* ; Receptor, Fibroblast Growth Factor, Type 1/metabolism* ; Gene Amplification ; Carrier Proteins ; Cytoskeletal Proteins

Objective: To investigate the gene mutation of telomerase reverse transcriptase (TERT) promoter in inverted urothelial lesions of the bladder and its significance in differential diagnosis. Methods: From March 2016 to February 2022, a total of 32 patients with inverted urothelial lesions diagnosed in Department of Pathology at Qingdao Chengyang People's Hospital and 24 patients at the Affiliated Hospital of Qingdao University were collected, including 7 cases of florid glandular cystitis, 13 cases of inverted urothelial papilloma, 8 cases of inverted urothelial neoplasm with low malignant potential, 17 cases of low-grade non-invasive inverted urothelial carcinoma, 5 cases of high-grade non-invasive inverted urothelial carcinoma, and 6 cases of nested subtype of urothelial carcinoma were retrospectively analyzed for their clinical data and histopathological features. TERT promoter mutations were analyzed by Sanger sequencing in all the cases. Results: No mutations in the TERT promoter were found in the florid glandular cystitis and inverted urothelial papilloma. The mutation rates of the TERT promoter in inverted urothelial neoplasm with low malignant potential, low grade non-invasive inverter urothelial carcinoma, high grade non-invasive inverted urothelial carcinoma and nested subtype urothelial carcinoma were 1/8, 8/17, 2/5 and 6/6, respectively. There was no significant difference in the mutation rate of TERT promoter among inverted urothelial neoplasm with low malignant potential, low-grade non-invasive inverted urothelial carcinoma, and high-grade non-invasive inverted urothelial carcinoma (P>0.05). All 6 cases of nested subtype of urothelial carcinoma were found to harbor the mutation, which was significantly different from inverted urothelial neoplasm with low malignant potential and non-invasive inverted urothelial carcinoma (P<0.05). In terms of mutation pattern, 13/17 of TERT promoter mutations were C228T, 4/17 were C250T. Conclusions: The morphology combined with TERT promoter mutation detection is helpful for the differential diagnosis of bladder non-invasive inverted urothelial lesions.
Humans ; Urinary Bladder Neoplasms/genetics* ; Carcinoma, Transitional Cell/pathology* ; Urinary Bladder/pathology* ; Diagnosis, Differential ; Retrospective Studies ; Mutation ; Cystitis/genetics* ; Neoplasms, Glandular and Epithelial/diagnosis* ; Papilloma/diagnosis* ; Telomerase/genetics*

The Diagnostic Genetics Subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2015 based on cytogenetics and molecular genetics surveys. A total of 43 laboratories participated in the chromosome surveys, 31 laboratories participated in the fluorescence in situ hybridization surveys, and 133 laboratories participated in the molecular genetics surveys. All except one laboratory showed acceptable results in the cytogenetics surveys. The molecular genetics surveys included the following tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemias and lymphomas, genetic tests for JAK2, FMS-like tyrosine kinase 3, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), hearing loss and deafness (GJB2 ), multiple endocrine neoplasia 2 (RET), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy ragged red fibre, Leber hereditary optic neuropathy, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome (FMR1), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping, cytochrome P450 2C9 genotyping, cytochrome P450 2C19 genotyping, and DNA sequencing analysis. The molecular genetics surveys showed excellent results for most of the participants. The external quality assessment program for genetics analysis in 2015 proved to be helpful for continuous education and the evaluation of quality improvement.
Achondroplasia ; Acidosis, Lactic ; Apolipoproteins ; Breast ; Cytochrome P-450 Enzyme System ; Cytogenetics ; Deafness ; Education ; Epilepsies, Myoclonic ; Fluorescence ; fms-Like Tyrosine Kinase 3 ; Fragile X Syndrome ; Gene Rearrangement ; Genetics* ; Hearing Loss ; Hepatitis B ; Hepatolenticular Degeneration ; Humans ; Huntington Disease ; In Situ Hybridization ; Korea* ; Li-Fraumeni Syndrome ; Lymphoma ; Methylenetetrahydrofolate Reductase (NADPH2) ; Molecular Biology ; Multiple Endocrine Neoplasia ; Muscular Atrophy, Spinal ; Muscular Disorders, Atrophic ; Muscular Dystrophy, Duchenne ; Mycobacterium tuberculosis ; Optic Atrophy, Hereditary, Leber ; Ovarian Neoplasms ; Papilloma ; Quality Improvement ; Sequence Analysis, DNA ; Spinocerebellar Ataxias ; Stroke

Quality control for genetic tests has become more important as testing volume and clinical demands have increased dramatically. The diagnostic genetics subcommittee of Korean Association of External Quality Assessment Service conducted two trials in 2014 based on cytogenetics and molecular genetics surveys. A total of 44 laboratories participated in the chromosome surveys, 33 laboratories participated in the fl uorescence in situ hybridization (FISH) surveys, and 130 laboratories participated in the molecular genetics surveys as a part of these trials. All laboratories showed acceptable results in the chromosome and FISH surveys. The molecular genetics surveys included various tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemia and lymphomas, genetic tests for JAK2, FMS-like tyrosine kinase 3, nucleophosmin, cancer-associated genes (KRAS, EGFR, KIT, and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy ragged red fibre, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, fragile X syndrome, nonsyndromic hearing loss and deafness (GJB2), multiple endocrine neoplasia 2 (RET), Leber hereditary optic neuropathy (major mutation), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping, and DNA sequencing analysis. Molecular genetic surveys showed excellent results for most of the participants. The external quality assessment program for genetic analysis in 2014 proved to be helpful for continuous education and the evaluation of quality improvement.
Achondroplasia ; Acidosis, Lactic ; Apolipoproteins ; Breast ; Cytogenetics ; Deafness ; Education ; Epilepsies, Myoclonic ; fms-Like Tyrosine Kinase 3 ; Fragile X Syndrome ; Gene Rearrangement ; Genetics* ; Hearing Loss ; Hepatitis B ; Hepatolenticular Degeneration ; Humans ; Huntington Disease ; In Situ Hybridization ; Korea ; Li-Fraumeni Syndrome ; Lymphoma ; Methylenetetrahydrofolate Reductase (NADPH2) ; Molecular Biology ; Molecular Diagnostic Techniques ; Multiple Endocrine Neoplasia ; Muscular Atrophy, Spinal ; Muscular Disorders, Atrophic ; Muscular Dystrophy, Duchenne ; Mycobacterium tuberculosis ; Optic Atrophy, Hereditary, Leber ; Ovarian Neoplasms ; Papilloma ; Quality Assurance, Health Care ; Quality Control ; Quality Improvement ; Sequence Analysis, DNA ; Spinocerebellar Ataxias ; Stroke

OBJECTIVE: The expression of C/EBPα, CK10 in nasal inverted papilloma (NIP) were detected in the study. Further discussed their significance in genesia, development and recurrence of NIP. METHOD: Three groups including nasal cavity mucosae (NM 10 cases), nasal polyp (NP 20 cases) and NIP (30 cases) were selected in the study. Expretion of C/EBPα, CK10 were detected by immunohistochemisty PV-6000 method. RESULT: (1) The different expression of C/EBPα and CK10 in the group of NM, NP and NIP was statistically significant (P < 0.05). (2) The different expression of C/EBPα, CK10 in the group of benign NIP and NIP with atypical hyperplasia was statistically significant (P < 0.05). (3) The different expression of C/EBPα and CK10 in the group of NIP with recurrence and NIP with no recurrence was statistically significant, P < 0.05, respectively. (4) Our result indicate that the relationship of C/EBPα and CK10 (r = 0.578, P < 0.01) was direct correlation. The difference was statistically significant. CONCLUSION In conclusion, the present results describe C/EBPα, CK10 expression in NIP and their possible implication in the regulation of tumor growth and differentiation. C/EBPα and CK10 production may prove useful in terms of a prognostic marker for the recurrence in nasal inverted papilloma.
CCAAT-Enhancer-Binding Proteins ; genetics ; metabolism ; Humans ; Keratin-10 ; genetics ; metabolism ; Nasal Polyps ; genetics ; metabolism ; Neoplasm Recurrence, Local ; Nose ; Nose Neoplasms ; genetics ; metabolism ; Papilloma, Inverted ; genetics ; metabolism

Quality control for genetic tests has become more important as the test volume and clinical demands increase dramatically. The diagnostic genetics subcommittee of the Korean Association of Quality Assurance for Clinical Laboratories performed two trials for cytogenetics and molecular genetics surveys in 2013. A total of 43 laboratories participated in the cytogenetic surveys, 30 laboratories participated in the fluorescent in situ hybridization surveys, and 122 laboratories participated in the molecular genetics surveys in 2013. Almost all of them showed acceptable results. However, some laboratories had unacceptable results for karyotype nomenclature, detection of complex cytogenetic abnormalities in hematologic neoplasms and constitutional anomalies. The molecular genetics surveys included various tests: Mycobacterium tuberculosis detection, hepatitis B and C virus detection and quantification, human papilloma virus genotyping, gene rearrangement tests for leukaemia and lymphomas, genetic tests for JAK2, fms-related tyrosine kinase 3, Nucleophosmin, cancer-associated genes (KRAS, EGFR and BRAF), hereditary breast and ovarian cancer genes (BRCA1 and BRCA2), Li-Fraumeni syndrome (TP53), Wilson disease (ATP7B), achondroplasia (FGFR3), Huntington disease, spinocerebellar ataxia, spinal and bulbar muscular atrophy, mitochondrial encephalopathy with lactic acidosis and stroke like episodes, myoclonic epilepsy associated with ragged-red fibers, Prader-Willi/Angelman syndrome, Duchenne muscular dystrophy, spinal muscular atrophy, Fragile X syndrome, non-syndromic hearing loss and deafness (GJB2), apolipoprotein E genotyping, methylenetetrahydrofolate reductase genotyping, ABO genotyping and DNA sequence analysis. Molecular genetic surveys showed excellent results for most of the participants. The external quality assessment program for genetic analysis in 2013 was proved to be helpful for continuous education and evaluation of quality improvement.
Achondroplasia ; Acidosis, Lactic ; Apolipoproteins ; Breast ; Chromosome Aberrations ; Cytogenetics ; Deafness ; Education ; Fragile X Syndrome ; Gene Rearrangement ; Genetics* ; Hearing Loss ; Hematologic Neoplasms ; Hepatitis B ; Hepatolenticular Degeneration ; Humans ; Huntington Disease ; In Situ Hybridization, Fluorescence ; Karyotype ; Korea ; Li-Fraumeni Syndrome ; Lymphoma ; MERRF Syndrome ; Methylenetetrahydrofolate Reductase (NADPH2) ; Molecular Biology ; Muscular Atrophy, Spinal ; Muscular Disorders, Atrophic ; Muscular Dystrophy, Duchenne ; Mycobacterium tuberculosis ; Ovarian Neoplasms ; Papilloma ; Protein-Tyrosine Kinases ; Quality Control ; Quality Improvement ; Sequence Analysis, DNA ; Spinocerebellar Ataxias ; Stroke

OBJECTIVE: To investigate the significance of expression of COX-2, p21, Ki67 and HPV in nasal inverted papilloma. METHOD: Detecting COX-2, p21, Ki-67 in 30 cases of nasal inverted papilloma (NIP), 20 cases of nasal polyps (NP) and 10 cases of normal nasal mucosa (NM) by two step immunohistochemical method, and HPV virus by flow-through hybridization method. RESULT: The positive expression rate of COX-2 and Ki-67 in NIP, NP and NM group was decreased in turn, COX-2 had significant difference in the groups(χ2 = 30.00, P< 0. 05); the positive expression rate of Ki-67 had significant differences between NIP and NM group (χ2 = 8. 533, P<0. 05). The expression of COX-2 in NIP tissues was positively correlate with that of Ki-67 by using Spearman rank correlation analysis (r=0.78, P<0.05). Expression of p21 were not observed in NIP group. The positive rate of HPV was 26. 67% in 30 cases of NIP, all of HPV16 type. CONCLUSION COX-2, Ki-67 and HPV infection have certain correlation with the occurrence of NIP. The occurrence of NIP has relationship with inflammatory reaction mediated by COX-2. Ki-67 can well reflect the proliferation activity of tumor cells, and can be used to measure the proliferation rate of nasal inverted papilloma. The COX-2 and Ki-67 have a synergistic role in the pathogenesis of NIP. p21 has no significant relationship with the incidence of NIP. HPV infection is related to the pathogenesis of NIP, but not as a;major factor in the pathogenesis of NIP.
Case-Control Studies ; Cyclin-Dependent Kinase Inhibitor p21 ; biosynthesis ; Cyclooxygenase 2 ; biosynthesis ; Humans ; Ki-67 Antigen ; biosynthesis ; Nasal Mucosa ; Nasal Polyps ; Nose Neoplasms ; genetics ; virology ; Papilloma, Inverted ; genetics ; virology ; Papillomavirus Infections

OBJECTIVE: To investigate the quantification and significance of Msx2, topoII-α; HPV16 and VEGF in sinonasal inverted papilloma(SNIP), to study the correlation among the four factors,and to discover the relationship between Msx2 and topoII-α in the process of SNIP malignant transfomation. METHOD: Real-time quantitative Polymerase Chain Reaction (RT-qPCR) was used to detect the expression of Msx2, topoII-α, HPV16 and VEGF in 13 cases of sinonasal inverted papilloma (SNIP), 10 cases of sinonasal squamous cell carcinoma(NSCC) and 10 cases of inflammatory nasal polyp paraffin (INP)tissues. According to the pathology results SNIP were divided into mild dysplasia, moderate dysplasia and severe dysplasia. All the data were analysised by SPSS17. 0, P<0. 05 was refered to statistically significant difference. RESULT: The mRNA level of Msx2, topoII-α, VEGF and HPV16 in SNIP, NSCC tissues were significantly higher than in the INP tissues (P<0. 05). The expression differences of Msx2, topoII-α, HPV16 and VEGF mRNA level in SNIP tissues which were divided into three groups according to their pathological results,were all statistically significantly different between any two of the three groups (P< 0. 05). Using Pearson correlation coefficient analysis,we found positive correlation between any two of the mRNA level of Msx2, topoII-α, VEGF and HPV16 (P<0. 05). CONCLUSION Msx2 and topoII-α may play an important role in the process of SNIP Malignant transformation,which may be new targets for gene therapy of SNIP and NSCC.
Antigens, Neoplasm ; physiology ; Carcinoma, Squamous Cell ; genetics ; Cell Transformation, Neoplastic ; genetics ; DNA Topoisomerases, Type II ; physiology ; DNA-Binding Proteins ; physiology ; Genes, Homeobox ; Homeodomain Proteins ; physiology ; Human papillomavirus 16 ; Humans ; Nose Neoplasms ; genetics ; Papilloma, Inverted ; genetics ; RNA, Messenger ; Vascular Endothelial Growth Factor A ; physiology

OBJECTIVE: To investigate the expression and significance of muscle segment homeobox2 (Msx2) and topo II-alpha in sinonasal inverted papilloma (SNIP), and the relationship in the process of malignant transformation of SNIP. METHOD: Immunohistochemical method was used to detect the expression of Msx2 and topo II-alpha in 32 cases of SNIP, 30 cases of inflammatory nasal polyp (INP) and 30 cases of SNIP with carcinoma. According to the pathology results, SNIP were divided into mild atypical hyperplasia, moderate atypical hyperplasia and severe atypical hyperplasia. RESULT: The mean optical density of Msx2 in SNIP and SNIP with carcinoma tissues were 0.2183 +/- 0.0598 and 0.2521 +/- 0.0761,which were significantly higher than 0.1878 +/- 0. 0372 in the INP tissue (P<0.05 or 0.01). The mean optical density of topo II-alpha in SNIP and SNIP with carcinoma tissues were 0.2303 +/- 0.0397 and 0.2666 +/- 0.0483, which were significantly higher than 0.1978 +/- 0.0388 in the NIP tissue (P<0.01). There were significant difference of Msx2 and topo II-alpha in SNIP between any two of the three groups divided according to pathological morphology (P<0.01 or 0.05). The expression of Msx2 and topo II-alpha in SNIP were positively correlated (P<0.05). CONCLUSION Msx2 and topo II-alpha may play an important role in the occurrence and development of SNIP. So it can be used as new therapeutic targets.
Antigens, Neoplasm ; genetics ; metabolism ; DNA Topoisomerases, Type II ; genetics ; metabolism ; DNA-Binding Proteins ; genetics ; metabolism ; Female ; Homeodomain Proteins ; genetics ; metabolism ; Humans ; Male ; Middle Aged ; Nose Neoplasms ; genetics ; metabolism ; pathology ; Papilloma, Inverted ; genetics ; metabolism ; pathology

OBJECTIVE: To study the expressions of FSCN1 and HGF in nasal inverted papilloma (NIP) and explore their role in occurrence and development of this disease. METHOD: Immunohistochemical method was used to determine the expression of FSCN1 and HGF in 12 cases of chronic hypertrophic rhinitis, 40 cases of NIP and 14 cases of NIP with malignant transformation. RESULT: FSCN1 was expressed in 52.5% of NIP, 78.6% of NIP with malignant transformation and 8.3% of inferior turbinate of chronic hypertrophic rhinitis. Expression of FSCN1 was significantly higher in NIP and NIP with malignant transformation than in inferior turbinate (P<0.05). HGF was expressed in 85.7% of NIP with malignant transformation and 8.3% of inferior turbinate. Expression of HGF was significantly higher in NIP with malignant transformation than in inferior turbinate (P<0.05). HGF was expressed in 40.0% of NIP,which was higher than that of inferior turbinate. Expression of HGF was positively related to expression of FSCN1 in NIP and NIP with malignant transformation. CONCLUSION The abnormal expression of FSCN1 and HGF may be closely correlated with NIP and its malignant process. Analysis of FSCN1 and HGF expression in NIP may be useful in predicting malignant transformation.
Carrier Proteins ; genetics ; metabolism ; Hepatocyte Growth Factor ; genetics ; metabolism ; Humans ; Microfilament Proteins ; genetics ; metabolism ; Nasal Mucosa ; metabolism ; pathology ; Nose Neoplasms ; genetics ; metabolism ; pathology ; Papilloma, Inverted ; genetics ; metabolism ; pathology ; Turbinates ; metabolism ; pathology