Sporadic Meningioangiomatosis Presenting as a Middle Cranial Fossa Arachnoid Cyst.

BACKGROUND: Meningioangiomatosis is an extremely rare meningovascular disease of the central nervous system that is characterized by the proliferation of leptomeninges, cortical vessels, and perivascular spindled cells. Although it is a benign, neoplastic disorder that carries a good prognosis after surgical excision, initial diagnosis may be challenging as radiologic findings are often variable and nonspecific. CASE DESCRIPTION: In this report, we describe an unusual presentation of meningioangiomatosis presenting as a symptomatic middle cranial fossa arachnoid cyst. CONCLUSIONS: In view of the unexpected diagnosis and infrequency of this condition, the case is discussed in collaboration with current literature and management strategies.

Comparative study of the methods of extracting mesenchymal stem cells from cryopreserved Wharton's Jelly.

The Wharton's Jelly (WJ) is an established source of mesenchymal stem cells (MSC). We compared 3 methods of extracting WJ-MSC from cryopreserved tissue and determined that enzymatic digestion of the WJ yielded the most viable MSC, compared to the explant and mechanical digestion methods. The enzymatically-released WJ-MSC conformed to the International Society for Cellular Therapy (ISCT) criteria: displayed plastic-adherence, co-expressed CD73, CD90, CD105 and were negative for hematopoietic lineage cell markers.

Bilateral Thalamic and Right Fronto-temporo-parietal Gliomas in a 4 Years Old Child Diagnosed by Magnetic Resonance Imaging.

We report the neuroimaging findings of a 4-year-old girl with biopsy-proven bilateral thalamic and right fronto-temporo-parietal cortical gliomas, which are uncommon tumours involving the central nervous system. Despite their benignity, the prognosis is usually poor because of involvement of the thalamic nuclei and difficulty in surgical excision. These lesions have limited differential diagnoses that include metabolic, toxic, infective, vascular and neoplastic. Imaging characteristics on conventional Magnetic Resonance (MR), Magnetic Resonance Spectroscopy (MRS) and Diffusion tensor imaging (DTI) can further narrow the differential diagnosis and also provide additional information regarding the degree of involvement of adjacent brain tissue and white matter tracts around the lesions.

Breast ductal carcinoma in situ presenting as recurrent non-puerperal mastitis: case report and literature review.

Breast ductal carcinoma in situ (DCIS) is a preinvasive form of breast cancer. It typically presents as microcalcifications which are picked up on screening mammogram. We report an atypical case of breast DCIS presenting with recurrent non-puerperal mastitis with a normal mammogram and perform a literature review.

Epigenetic inactivation of DLC-1 in supratentorial primitive neuroectodermal tumor.

Supratentorial primitive neuroectodermal tumors (SPNETs) and medulloblastomas (MBs) are histologically similar intracranial tumors found in different anatomic locations of the brain. Our group has previously demonstrated that loss of chromosome 8p is a frequent event in MBs. The aim of this study was to evaluate whether DLC-1, a newly identified tumor-suppressor gene on chromosome 8p22, is involved in the tumorigenesis of MBs and the histologically similar SPNETs. We first assessed for alterations of gene expression in microdissected tumors and detected lack of DLC-1 transcript in 1 of 9 MBs (case M44) and 1 of 3 SPNETs (case M1). Neither somatic base substitutions nor homozygous deletion were found in tumors without DLC-1 transcript. We then explored the possibility of hypermethylation of the CpG island in DLC-1 as the mechanism of suppressed expression. Methylation-specific polymerase chain reaction revealed promotor hypermethylation of DLC-1 in M1 but not in M44. Bisulfite sequencing further verified a densely methylated pattern of 35 CpG sites studied in M1 that were not found in normal brain, indicating that inactivation of DLC-1 by hypermethylation is involved in SPNET. Based on this finding, we examined an additional 20 MBs, 8 SPNETs, and 4 MB and 2 SPNET cell lines for hypermethylation of the CpG island of DLC-1, finding that none of these samples exhibited DLC-1 methylation. In conclusion, our results demonstrate that transcriptional silencing of DLC-1 through promoter hypermethylation may contribute to tumorigenesis in a subset of SPNETs, and that loss of DLC-1 expression in MBs may be related to mechanisms other than promoter hypermethylation, genomic deletion, and mutation.

MR imaging features of pigmented villonodular synovitis of the cervical spine.

Pigmented villonodular synovitis (PVNS) is a benign proliferative disorder primarily occurring in the large joints of the appendicular skeleton such as the knee and hip joints. We present an unusual case of PVNS involving the cervical spine in an adult. MR imaging showed an enhancing mass lesion arising from the posterior elements of the cervical spine and hyperintensity on the T2-weighted images, without evidence of T2 susceptibility effects. Gross total excision of the tumor was performed, and the diagnosis was established by histopathology.

Solitary fibrous tumor of the hypoglossal nerve.

SUMMARY: We report a case of solitary fibrous tumor (SFT) causing isolated hypoglossal nerve palsy. The neuroimaging appearance of the tumor was indistinguishable from that of schwannoma or meningioma. Immunohistochemical tests demonstrated strong reactivity for CD34 but an absence of staining for S100 and epithelial membrane antigen; this profile is indicative of an SFT. SFTs are mesenchymal tumors that can affect the dura-covered segments of cranial nerves. They may be considered in the differential diagnosis of an isolated cranial nerve palsy.

Overexpression of mdm2 and p53 and association with progesterone receptor expression in benign meningiomas.

The progesterone receptor is frequently found expressed in meningiomas at robust levels. As several studies of breast and endometrial tumors have shown an inverse correlation between progesterone receptor expression and p53 overexpression, we sought to determine if a similar relationship existed in meningiomas. As p53 may also be inactivated by the overexpression of mdm2, we examined a cohort of 90 benign meningiomas immunohistochemically for the presence of the progesterone receptor as well as overexpression of p53 and mdm2. The progesterone receptor was detected in 67% (61/90) of cases, while p53 and mdm2 overexpression were detected in 14% (13/90) and 46% (42/90) of cases, respectively. An absolute correlation was observed between the overexpression of nuclear mdm2 and overexpression of the progesterone receptor, with nuclear mdm2 overexpression being confined to progesterone receptor-positive tumors (P = 0.001). While p53 overexpression was not associated with progesterone receptor expression, a combination of mdm2 overexpression and/or p53 overexpression was significantly associated with the presence of the progesterone receptor (P = 0.025). These results suggest the existence of a novel relationship between p53 (and its regulatory control) and the presence of the progesterone receptor and, as such, may have fundamental consequences in developing progesterone receptor-targeted therapies for meningiomas.

Expression of survivin in primary glioblastomas.

PURPOSE: Studies in several tumour types have suggested that the inappropriate expression of the novel inhibitor of apoptosis protein survivin may play a key role in tumourigenesis. This study presents the first immunohistochemical examination of survivin expression in glioblastomas. METHOD: The cohort consisted of 39 ethnic Chinese patients diagnosed with primary glioblastoma multiforme. Samples were archival paraffin-embedded blocks. Concomitant with examination for survivin expression, samples were also examined for over-expression of the p53 protein as well as for evidence of apoptotic cells via the terminal deoxynucleotide transferease (TdT) mediated nick end labelling (TUNEL) technique. RESULTS: Results showed that survivin was expressed in nearly 80% (31/39) of samples. Over-expression of moderate or high levels of survivin was correlated with the absence of apoptotic cells ( P=0.03). Expression of survivin and p53 was found to be significantly related ( P=0.037), and 70% (27/39) of tumours showed co-ordinate expression of p53 and survivin. CONCLUSION: Given that p53 over-expression in primary glioblastomas is predominantly detected in the absence of mutations of the gene, and that both survivin and p53 are regulated at the level of the protein by the same ubiquitin-proteosome degradation pathway, these results suggest that primary glioblastomas may occur as a result of a failure of appropriate protein degradation regulation.

Glioblastoma multiforme in an Asian population: evidence for a distinct genetic pathway.

In Singapore astrocytic tumours occur in only 25% of patients with primary brain tumours compared to 40-60% in other series. Glioblastoma multiforme arises either de novo as a primary glioblastomas associated with epidermal growth factor receptor (EGFR) and mdm2 over-expression or as a secondary glioblastomas, through malignant progression from low-grade astrocytomas, associated with p53 mutations and PDGFR-alpha over-expression. Using immunohistochemical methods and DNA sequencing, we studied our population of glioblastomas for overexpression of EGFR, mdm2, p53, and PDGFR-alpha as well directly for mutations of the p53 gene. While levels of over-expression of EGFR and mdm2 were consistent with levels expected for primary glioblastomas, levels of p53 and PDGFR-alpha were consistent with levels documented for secondary glioblastomas. Notably 96% of the samples over-expressed p53 as detected with monoclonal antibody pAb 240. Of the 39 samples available for DNA sequencing 18% (7/39) had p53 mutations, including three mutations previously undocumented in glioblastomas. These results provide strong evidence that glioblastomas in Asian patients do not conform to currently accepted models of glioblastoma development, and that clinically defined glioblastomas in these patients show genetic changes consistent with both 'primary' and 'secondary' glioblastomas.