Association of E-selectin S128R Polymorphism with Hereditary Breast Carcinoma Susceptibility in Turkish Patients Without BRCA1/2 Germline Mutations.

Inherited genetic factors play an important role in breast cancer susceptibility. The BRCA1 and BRCA2 mutations are the most well-known genetic factors associated with increased risk of breast cancer. E-selectin is a cell surface glycoprotein and its serum levels are known to increase in various cancers. The present retrospective study aimed to evaluate whether E-selectin S128R polymorphism (NG_012124.1: g.7161A>C, NM_000450.2: c.445A>C, NP_000441.2: p.Ser149Arg), which is known to have a role in cancer risk, is associated with breast cancer susceptibility in BRCA 1/2 mutation non carriers with breast cancer. The study included 90 patients with breast cancer and 270 healthy controls. All breast cancer patients were screened for BRCA 1/2 mutations and confirmed to be BRCA 1/2 mutation non carriers before inclusion in the study. Genotyping for the E-selectin S128R polymorphism was performed using real-time polymerase chain reaction (PCR) analysis. The frequencies of the AA, AC and CC genotypes were 70.0, 25.5 and 4.5%, respectively, in the patient group and 79.25, 19.25 and 1.5%, respectively, in the controls. The frequencies of A and C alleles were 84.8 and 15.2% in the patient group, respectively, and 88.9 and 11.1%, respectively, in the controls. No significant differences were determined in the genotype and allele frequencies of the E-selectin S128R polymorphism between the patient and control groups (p = 0.095). The S128R (A/C) polymorphism was not found to be associated with an increased risk of breast cancer [odds ratio (OR) = 0.69; 95% confidence interval (95% CI): 0.43-1.10; p = 0.1248). There was no association between the S128R polymorphism and breast cancer susceptibility in BRCA 1/2 mutation non carriers with breast cancer in the studied Turkish population. Further studies with larger sample sizes are needed to validate our findings.

Comparison of p57, c-erbB-2, CD117, and Bcl-2 expression in the differential diagnosis of hydatidiform mole and hydropic abortion.

PURPOSE: To explore the utility of p57, c-erbB-2, CD 117, and Bel-2 immunostaining in the differential diagnosis of complete hydatidiform mole (CHM), partial hydatidiform mole (PHM), and hydropic abortion (HA). MATERIALS AND METHODS: Immunohistochemical expression of the p57, c-erbB-2, CD117, and Bel-2 proteins were investigated semi-quantitatively using paraffin-embedded tissue sections from histologically unequivocal cases of CHM (n = 20), PHM (n = 23), and HA (n = 17). RESULTS: All cases of CHM exhibited a striking absence of p57 expression. The percentage of positive p57 staining was similar between PHMs (73.9%) and HAs (76.5%) (p >0.05). The comparison of c-erbB-2 expression revealed a significantly higher percentage of positive c-erbB-2 staining in CHMs (45%) compared with that in PHMs (8.7%) and HAs (5.9%) (p = 0.006 and 0.01, respectively). The CD 117 expression pattern (immunoreactivity score, percentage of positive cells, and staining intensity) was significantly lower in HAs compared with that in PHMs and CHMs (p < 0.05 for all). A significantly increased Bel-2 expression pattern was observed in HAs compared with that in PHMs and CHMs (p < 0.05 for all). CONCLUSION: Immunohistochemical examination of p57, c-erbB-2, CD 117, and Bel-2 expression represents a relatively simple, reliable, and cost-efficient procedure to definitively distinguish among CHM, PHM, and HA.

Sarcolemmal deficiency of sarcoglycan complex in an 18-month-old Turkish boy with a large deletion in the beta sarcoglycan gene.

Limb-girdle muscular dystrophy type 2E (LGMD-2E) is caused by autosomal recessive defects in the beta sarcoglycan (SGCB) gene located on chromosome 4q12. In this case report, the clinical findings, histopathological features and molecular genetic data in a boy with ß sarcoglycanopathy are presented. An 18-month-old boy had a very high serum creatinine phosphokinase (CPK) level that was accidentally determined. The results of molecular analyses for the dystrophin gene was found to be normal. He underwent a muscle biopsy which showed dystrophic features. Immunohistochemistry showed that there was a total loss of sarcolemmal sarcoglycan complex. DNA analysis revealed a large homozygous deletion in the SCGB gene. During 4 years of follow-up, there was no evidence to predict a severe clinical course except the muscle enzyme elevation and myopathic electromyography (EMG) finding. The presented milder phenotype of LGMD-2E with a large deletion in the SGCB gene provided additional support for the clinical heterogeneity and pathogenic complexity of the disease.

Placental mesenchymal dysplasia: a rare clinicopathologic entity confused with molar pregnancy.

Placental mesenchymal dysplasia (PMD) is a rare placental abnormality characterised by placentomegaly and grape-like vesicles resembling partial mole by ultrasonography, but in contrast to partial mole can co-exist with a viable fetus. Although the karyotype is normal, the fetus is at increased risk for intrauterine growth restriction, intrauterine fetal demise or perinatal death and Beckwith-Wiedemann syndrome. Prenatal diagnosis is difficult and the final diagnosis is usually achieved by postpartum histological examination of the placenta. We present two recent cases of placental mesenchymal dysplasia with poor obstetric outcome. One fetus presented with reduced growth parameters, while the other fetus showed hepatosplenomegaly and early hydropic changes that appear to be associated with Beckwith-Wiedemann syndrome. In this report, the clinico-pathological features of two cases of PMD are discussed and the differentiation from a partial mole is highlighted. This study also supports the utility of cytogenetic ploidy analysis and p57KIP2 protein staining in the evaluation of pregnancies with PMD.