Apresentação clínica de osteogênese XV em um menino brasileiro de 4 anos / Clinical presentation of osteogenesis imperfecta XV in a four-year-old brazilian boy

Introdução: Osteogênese Imperfeita (OI) é uma doença genética rara com fragilidade óssea. A classificação inclui muitos tipos. Além do risco de recorrência, o manejo pode variar com o tipo de OI. Relato do caso: Apresentamos um paciente do sexo masculino nascido com 39 semanas, de pais não consanguíneos e saudáveis. A hidrocefalia foi diagnosticada no pré-natal. Com 50 dias de vida, detectamos muitas fraturas e calos ósseos. O teste molecular identificou uma deleção em homozigose do éxon 4 do gene WNT1. Considerações finais: Concluímos que o caso apresentado tinha características clínicas de OI XV, e o teste molecular foi fundamental para o diagnóstico preciso e aconselhamento genético.

Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disease with bone fragility. The classification includes many types. In addition, the risk of a recurrence, the management can vary with the kind of OI. Case report: We report a male patient born at 39 weeks from non-consanguineous healthy parents. The patient was diagnosed with Hydrocephalus at prenatal. At 50 days of life, we detected many fractures and bone calluses. The molecular test identified a homozygous deletion of exon 4 of the WNT1 gene. Final considerations: We conclude this case had clinical features of OI XV, and the molecular test was fundamental for the precise diagnosis and the genetic counseling.

The Expression and Clinical Significance of DKK1, SFRP4 and Wnt1 in Cervical Squamous Cell Carcinoma / 天津医药

Objective To investigate the expressions of DKK1,SFRP4 and Wnt1 in cervical squamous cell carcino-ma(SCC), and the clinical significance thereof. Methods There were 76 samples of cervical squamous cell carcinoma were included in SCC group and 36 benign uterine resection specimens were control group (NC). The immunohistochemical meth-od was applied to detect the expressions of DKK1,SFRP4 and Wnt1 in two groups. Results The expression of DKK1 was significantly lower in SCC group than that in NC group (P＜0.05). The expression levels of SFRP4 and Wnt1 were significant-ly higher in SCC group than those of NC group (P＜0.05). There were significant differences in the expressions of DKK1, SFRP4 and Wnt1 between samples of different clinical staging, differentiation, sizes of tumor and lymph node metastasis (P＜0.05). The expression of DKK1 was negatively correlated with SFRP4 and Wnt1 in SCC group (P＜0.05). The expression of SFRP4 was positively correlated with Wnt1 in SCC group (P＜0.05). Conclusion The roles of SFRP4 and Wnt1 are syn-ergistic interactions in the development of SCC. DKK1 is an inhibiting factor of SCC.

Expression and significance of Wnt1 and β-catenin proteins in breast invasive ductal carcinoma / 中国医师杂志

Objective To investigate the expressions of Wnt1 and β-catenin proteins in mammary cancer and its relationship with clinical pathological characteristics,and explore its role in the pathogenesis of breast cancer.Methods Immunoshistochemisty (SP method) was used to detect the expressions of Wnt1 and β-catenin proteins in adjacent tissue of breast cancer (n =15),breast hyperplasia tissues (n =25),and breast in vasive ductal carcinoma (n =80).SPSS 17.0 statistical software was used for analysis,such as count data with x2 test and correlation analysis with Spearman test,with significance level of α =0.05.Results The positive rate of Wnt1 and β-catenin in breast cancer group [62.5％ (50/80) and 68.8 (55/80)] was significantly higher than that in hyperplasia group [28％ (7/25) and 20％ (5/25)]and in borderline group [13.33 (2/15) and 13.33 (2/15)] with a significant difference (P ＜ 0.01).Positive expression of Wnt1 and abnormal expression of β-catenin in breast invasive ductal carcinoma were related to lymphatic metastasis (x2 =5.10,4.87,P ＜ 0.05).Abnormal expression of β-catenin was also related to the histological grading of breast invasive ductal carcinoma (x2 =5.61,P ＜ 0.05).The expressions of Wnt1 and β-catenin proteins in invasive ductal carcinoma showed a positive correlation (r =0.313,P ＜ 0.01).Conclusions The high level expression of Wnt1 protein and the abnormal expression of β-catenin protein might play an important role in breast carcinogenesis,and was related to lymph node metastasis.

The Loss of E-cadherin is Associated with the Epigenetic Alteration of CDH1 in Breast Cancer and it is also Associated with an Abnormal beta-catenin Expression in Lobular Carcinoma

BACKGROUND: APC and E-cadherin are the key molecules in the Wnt/beta-catenin pathway. We attempted to define the epigenetic alteration of APC and CDH1 (the E-cadherin gene) and the expression of Wnt-related molecules in human mammary carcinomas. METHODS: Sixty-four mammary carcinomas, including 52 invasive ductal carcinomas (IDCs) and 12 invasive lobular carcinomas (ILCs), were evaluated using methylation-specific PCR and immunohistochemistry. We performed immunohistochemistry for E-cadherin, beta-catenin, APC, Wnt1, cyclin D1, ER, PR and C-erb B2. RESULTS: Hypermethylation of APC and CDH1 was observed in 38 (59%) and 28 (44%) cases, respectively. CDH1 hypermethylation in ILCs was increased compared to that in IDCs (p=0.002) and it was associated with the loss of E-cadherin (p=0.02) and beta-catenin (p=0.042). APC methylation was positively correlated with the ER expression (p=0.021). Abnormal cytoplasmic localization of beta-catenin was found in 10 cases and any expression was not detected in six cases. In ILCs, the E-cadherin or beta-catenin expression was markedly decreased compared to that in IDCs (p<0.001 in both). CONCLUSIONS: Methylation of APC or CDH1 was relatively frequent in mammary carcinomas. The loss of E-cadherin in mammary carcinoma was associated with CDH1 methylation, and abnormal beta-catenin expression was related to the loss of E-cadherin in ILC.