rs3918242 variant genotype frequency and increased TIMP-2 and MMP-9 expression are positively correlated with cancer invasion in urinary bladder cancer.

To study the role of MMP9 and TIMP2 genotypes and expression in predisposition to bladder cancer and relation with metastasis. 100 urinary bladder cancer patients and 100 healthy controls were included in the study. rs3918242 and rs8179090 genotypes were determined with PCR-RFLP. Quantitative real-time polymerase chain reaction was employed to assess the MMP-9 and TIMP-2 expression in tumors and adjacent healthy tissues. Variant genotype (TT) for rs3918242 polymorphism and rs8179090 variant genotype are not associated with bladder cancer risk. rs3918242 genotype was significantly associated with tumor invasion. In contrast with this, rs8179090 genotype has not shown a significant association with tumor invasion. Both SNPs did not show a significant association with metastatic status. MMP-9 was upregulated in tumors in comparison to cancer free tissues. Significant increase in the expression of MMP-9 was also observed in invasive tumors. TIMP-2 expression was significantly increased in tumors in comparison to cancer free tissues and in metastatic tumors in comparison to non-metastatic tumors. Tissues with rs3918242 variant genotype have shown increased MMP-9 expression.  rs3918242 promoter polymorphism of MMP-9 is significantly associated with tumor invasion, however; there is no positive correlation between TIMP-2 rs8179090 promoter polymorphism variant frequency and invasion. MMP-9 and TIMP-2 genes are upregulated in cancerous tissues when compared to normal bladder tissues.

Deregulation of seven CpG island-harboring miRNAs in bladder cancer: miR-155 and miR-23b as the most promising oncomiRs.

Analyses of differential miRNA expressions in tumor and normal tissues can identify specific miRNAs involved in cancer pathogenesis, which can then be used as diagnostic, therapeutic and prognostic biomarkers. In this respect, we aimed to investigate expression levels of seven CpG island-harboring miRNAs in 50 paired UBC tissues by qRT-PCR. miR-21 and miR-155 were found to be significantly upregulated, and miR-23b, miR-126, miR-129-5p, miR-143a and miR-218-5p were downregulated. ROC analysis indicated miR-155 as the most promising candidate for discrimination of tumors from healthy tissue, and miR-23b for the discrimination of early stage from late stage tumors.

Trinucleotide repeat expansions in human breast cancer-susceptibility genes: relevant targets for aspirin chemoprevention?

PURPOSE: Defining novel molecular mechanisms pertinent to aspirin chemoprevention of breast cancer (BC) and to explain controversial epidemiological results in this regard. METHODS: Literature search in relevant databases with the following key words; aspirin, nucleotide repeat expansions, breast cancer. Human genome contains nucleotide repeat expansions and exon-1 of the androgen receptor gene AR contains a CAG string with an average of 20 repeats. Longer AR CAG repeats associate with lower AR protein functioning leading relatively higher estrogen receptor signals and higher risk of hormone receptor-positive BC. Nucleotide repeat expansions also exist in E2F4 and POLG genes in BC. In cell culture models, aspirin reduces CAG.CTG expansions in kidney cells and restores myogenic differentiation in cells obtained from tissues with myotonic dystrophy, a disorder caused by large CTG expansions. CONCLUSIONS: We hypothesize that aspirin reduction of trinucleotide repeat expansions in breast cancer-susceptibility genes may be one of the relevant mechanisms of its chemopreventive effects.

Expression of vascular endothelial growth factor (VEGF), hypoxia inducible factor 1 alpha (HIF-1alpha), and transforming growth factors beta1 (TGFbeta1) and beta3 (TGFbeta3) in gestational trophoblastic disease.

The aim of this study was to investigate the relationship between the expression of vascular endothelial growth factor (VEGF), transforming growth factor beta (TGF-beta1 and TGF-beta3), and hypoxia inducible factor 1 alpha (HIF-1alpha) in gestational trophoblastic diseases to highlight the possible histogenesis. Twenty-one partial hydatidiform moles (PHM), 19 complete hydatidiform moles (CHM), 13 choriocarcinomas, and 20 nonhydropic spontaneous abortions (control group) were evaluated with immunohistochemistry using VEGF, HIF-1alpha, TGFbeta1, and TGFbeta3. The extent of immunohistochemical positivity (0%=0, 1-24%=1, 25-49%=2, 50-74%=3, and greater than 75%=4) and intensity (no staining=0, weak staining=1, medium staining=2, and strong staining=3) were recorded. The expression of VEGF in spontaneous abortions and choriocarcinoma was higher than the expression in PHM and CHM. HIF-1alpha was strongly expressed in the choriocarcinomas compared to the other subgroups. Nonhydropic spontaneous abortions (control group) showed the highest TGFbeta1 expression levels among the case subgroups, followed by PHM, CHM, and choriocarcinoma (p<0.001). The expression of TGFbeta3 was seen in all groups, but the highest level of expression was observed in both CHM and choriocarcinoma. We conclude that higher levels of VEGF, HIF-1alpha, and TGFbeta3 expression in choriocarcinoma might be involved in the development of trophoblastic diseases.

Renal tubular dysgenesis with hypoplastic calvaria: report of two cases.

Renal tubular dysgenesis (RTD), a rare, lethal, autosomal recessive disorder, is characterized by short and poorly differentiated proximal tubules and associated with hypoplastic calvaria. We report two cases of RTD with hypoplasia of the calvaria. Microscopically, proximal tubules in the kidneys were not seen on routine H&E stain. Almost all tubules in the cortex were stained for epithelial membrane antigen (EMA), confirming the absence of proximal tubule differentiation. The autopsy findings, microscopic features and the etiology of this rare condition is discussed and compared with literature data.

The expression of cytoskeletal proteins (alpha-SMA, vimentin, desmin) in kidney tissue: a comparison of fetal, normal kidneys, and glomerulonephritis.

BACKGROUND: The aim of the study is a comparison of the expression of cytoskeletal proteins, alpha smooth muscle actin (alpha-SMA), vimentin, and desmin in fetal, normal kidney and proliferative (diffuse proliferative and membranoproliferative glomerulonephritis) and nonproliferative (membranous glomerulonephritis) glomerulonephritis. METHODS: We have studied the expression of cytoskeletal proteins (alpha-SMA, vimentin, desmin) in the paraffin embedded tissue sections from the kidneys of 10 normal kidney (adults and infants), 13 fetal kidney, 12 membranous glomerulonephritis (MGN), 8 membranoproliferative glomerulonephritis (MPGN), 8 diffuse proliferative glomerulonephritis (DPGN). Interstitial and glomerular positive stainings were evaluated. RESULTS: Vimentin expression was similar in normal infant and adult kidneys with positive staining in glomeruli and negative staining in interstitium. In fetal kidneys, glomerular mesangial and epithelial cells and blastematous areas showed positive reactivity with vimentin. Alpha-SMA staining was different among the groups. In fetal kidney, alpha-SMA expression was found in glomerular mesangial cells and blastematous areas. Alpha-SMA staining was positive in peritubular area and glomerular mesangial cells in infant kidney. In adult kidneys, glomerular staining with alpha-SMA disappeared but peritubular positivity continued. Interstitial staining with alpha-SMA was positive in fibrotic areas of proliferative (MPGN, DPGN) and non-proliferative (MGN) glomerulonephritis, but positive glomerular staining with alpha-SMA was found only proliferative glomerulonephritis. Desmin expression was negative in all groups. CONCLUSIONS: Desmin is not expressed in early stages of kidney growth, infant and adult kidneys, and proliferative and nonproliferative glomerulonephritis. Interstitial staining of vimentin in the diseased kidney tissues revealed increased fibrosis. Alpha-SMA revealed important differences in different stages of nephrogenesis. Glomerular mesangial staining with alpha-SMA in developing (fetal and infant kidneys) and proliferative glomerulonephritis suggest that it may be a marker of proliferation. In addition, it shows myofibroblastic differentiation in interstitium in diseased kidneys.

Report of a rare case of vocal fold carcinoma that was obscured by a prominent vocal fold polyp.

We report the case of a 56-year-old man who was evaluated for hoarseness. Telescopic and fiberoptic examination revealed a huge, pedunculated polyp that obscured the vocal folds. Upon further examination, microlaryngoscopy revealed a coexisting superficial irregular lesion on the upper surface of the left vocal fold, which was identified as a microinvasive carcinoma. This unusual presentation emphasizes the importance of a microlaryngoscopic examination.

Gastric cyst of the oral cavity.

A case of a heterotopic gastric cyst of the oral cavity is described and a review of the literature, with emphasis on the possible etiological theories of this rare lesion, is presented. This developmental lesion is found more commonly in males. It most likely arises from misplaced embryonal tissue. Surgical treatment is the preferred choice of treatment, and CO2 laser is a safe alternative surgical approach for the removal of this lesion.

Primary rhabdomyosarcoma of the heart presenting with increased intracranial pressure.

An 18-month-old boy presented with signs of increased intracranial pressure. Computed tomographic scans of the brain and lungs showed multiple masses in the brain and lungs. Echocardiography revealed homogeneous, irregular pericardial thickening, minimal pericardial effusion, and irregular echogenic areas in the left ventricular inferoposterior and apical regions. Postmortem examination of tumor tissue showed that the masses were primary rhabdomyosarcoma of the left ventricle with multiple metastases. Primary rhabdomyosarcoma of the heart is uncommon, especially in patients under 2 years of age.

Combined occurrence of primary cerebral lymphoma and meningioma.

A unique combination of primary cerebral lymphoma and meningioma was encountered in a 38-year-old woman who recently presented clinically with headache and papilledema. The both tumors were identified by CT scan and diagnosed histopathologically after the surgery. The association of a highly malignant primary cerebral lymphoma and a slowly growing meningioma is extremely rare. The possibility of an unknown underlying pathologic mechanism predisposing to multiple tumors should be considered.

DNA ploidy, proliferative activity, and concanavalin A reactivity in breast cancer.

Paraffin-embedded primary tumor specimens from 48 patients with breast cancer were examined for DNA ploidy, S-phase fraction (SPF), and concanavalin A (Con A) reactivity. The results were correlated with clinicopathological prognostic factors, including patients' age and menopausal status, stage of disease, nuclear grade, and size of the primary tumor. There were no associations among ploidy, SPF, Con A reactivity, and menopausal status, stage of disease, or size of the primary tumor. However, among patients who were 50 years or older, 81% had diploid tumors and 73% had good reactivity (3+ or better staining score) with Con A. In contrast, among patients who were younger than 50 years, 45% had diploid tumors (P < 0.05) and 21% had good Con A reactivity (P < 0.05). Seven of 19 (37%) poorly differentiated tumors and 7 of 9 (78%) moderately differentiated tumors had good reactivity with Con A (P < 0.05). Reactivity of tumor cells with Con A in primary breast cancer tissues deserves further evaluation as a potential biomarker of prognosis.

Roberts-SC phocomelia syndrome: a case with additional anomalies.

Roberts-SC phocomelia syndrome (RS) is an autosomal recessive disorder with symmetric limb defects, craniofacial abnormalities, pre- and postnatal growth retardation and mental retardation. Patients with RS were reported to have premature separation of heterochromatin of many chromosomes. We report an infant whose clinical, radiologic and chromosomal findings resemble those of RS, with rudimentary gallbladder and accessory spleen. This patient may represent a variant of RS.

A case of infiltrating lipomatosis with diffuse, symmetrical distribution.

Infiltrating lipomatosis represents a distinct clinicopathological entity characterised by collections of non-encapsulated, mature lipocytes that infiltrate local tissues. The lesions are usually first observed during the first three decades of life, but congenital types exist. Although a predilection for the lower extremity exists in approximately 80% of patients, they can affect a multitude of anatomic sites. Infiltrating lipomatosis of the face, head and neck, upper and lower extremities, trunk and abdominal cavity and pelvis have all been reported. The patient presented here had symmetrical, diffuse infiltrating lipomatosis involving almost the whole body, sparing only the head, neck, fingers and toes.

Incomplete Behçet's syndrome with unusual manifestations.

We report a case of incomplete Behçet's syndrome with two major criteria plus interstitial pneumonia. The patient had also hypoplastic bone marrow and disseminated intravascular coagulation developed during the terminal stage.