Cerebellar Hemangioblastoma with Leptomeningeal Spread and a Fatal Outcome: A Rare Case Report with MDM2 and EGFR Alterations.

Hemangioblastoma (HB) is a Central Nervous System (CNS) tumor with a generally favorable behavior and prognosis, classified as WHO grade 1. Sporadic HB is not related to any inherited disease, and it usually appears in a single location. Sporadic or VHL-related HBs show variable patterns of growth velocity. Cases of growing HB can cause mild symptoms such as headache, but some cases develop serious complications such as accumulation of cerebrospinal fluid in the brain with secondary neurological damage sometimes being irreversible when early treatment is not started. Our case showed some clinical characteristics more frequently observed in VHL-related HB rather than sporadic HB, and the presence of alterations in MDM2 and EGFR that could be related to the oncogenesis of these tumors. Even when the treatment of choice for HB is surgery, the presence of these genetic alterations could open a new window for research aimed at assessing the possibility of new therapies with TKIs-EGFR and anti-MDM2 inhibitors in those HB cases with multifocal recurrences or cases with an adverse clinical behavior.

Tumor cell and immune cell profiles in primary human glioblastoma: Impact on patient outcome.

The distribution and role of tumor-infiltrating leucocytes in glioblastoma (GBM) remain largely unknown. Here, we investigated the cellular composition of 55 primary (adult) GBM samples by flow cytometry and correlated the tumor immune profile with patient features at diagnosis and outcome. GBM single-cell suspensions were stained at diagnosis (n = 44) and recurrence following radiotherapy and chemotherapy (n = 11) with a panel of 8-color monoclonal antibody combinations for the identification and enumeration of (GFAP+ CD45- ) tumor and normal astrocytic cells, infiltrating myeloid cells -i.e. microglial and blood-derived tumor-associated macrophages (TAM), M1-like, and M2-like TAM, neutrophils. and myeloid-derived suppressor cells (MDSC)- and tumor-infiltrating lymphocytes (TIL) -i.e. CD3+ T-cells and their TCD4+ , TCD8+ , TCD4- CD8- , and (CD25+ CD127lo ) regulatory (T-regs) subsets, (CD19+ CD20+ ) B-cells, and (CD16+ ) NK-cells-. Overall, GBM samples consisted of a major population (mean ± 1SD) of tumor and normal astrocytic cells (73% ± 16%) together with a significant but variable fraction of immune cells (24% ± 18%). Within myeloid cells, TAM predominated (13% ± 12%) including both microglial cells (10% ± 11%) and blood-derived macrophages (3% ± 5%), in addition to a smaller proportion of neutrophils (5% ± 9%) and MDSC (4% ± 8%). Lymphocytes were less represented and mostly included TCD4+ (0.5% ± 0.7%) and TCD8+ cells (0.6% ± 0.7%), together with lower numbers of TCD4- CD8- T-cells (0.2% ± 0.4%), T-regs (0.1% ± 0.2%), B-lymphocytes (0.1% ± 0.2%) and NK-cells (0.05% ± 0.05%). Overall, three distinct immune profiles were identified: cases with a minor fraction of leucocytes, tumors with a predominance of TAM and neutrophils, and cases with mixed infiltration by TAM, neutrophils, and T-lymphocytes. Untreated GBM patients with mixed myeloid and lymphoid immune infiltrates showed a significantly shorter patient overall survival versus the other two groups, in the absence of gains of the EGFR gene (p = 0.02). Here we show that immune cell infiltrates are systematically present in GBM, with highly variable levels and immune profiles. Patients with mixed myeloid and T-lymphoid infiltrates showed a worse outcome.

Re-Evaluating Simpson Grade I, II, and III Resections in Neurosurgical Treatment of World Health Organization Grade I Meningiomas.

BACKGROUND: Since 1957, the Simpson grading system has been considered a predictive system for meningioma recurrence. However, since then, surgical equipment and neurosurgical technique have developed extensively, so this grading system should be re-evaluated. This study aims to assess if the recurrence rate and recurrence-free survival (RFS) are different after Simpson grade I, II, and III resections in World Health Organization (WHO) grade I meningiomas. METHODS: We retrospectively reviewed the data of patients who underwent surgical treatment of WHO grade I meningiomas located in the convexity (group 1), falx/parasagittal (group 2), skull base, and tentorium (group 3) between June 1991 and December 2011. We compared the recurrence rates and RFSs between Simpson grade I, II, and III resections in both overall cases and tumor subsets according to their localization. RESULTS: A total of 224 meningiomas were included in this study. There were no significant differences in recurrence rates and RFSs between Simpson grades I, II, and III. In each of the location groups, no significant differences were noted between the different degrees of Simpson. CONCLUSIONS: We have shown that complete resection of WHO grade I meningiomas achieves excellent tumor control, regardless of Simpson grades. More aggressive attempts at tumor resection (ie, Simpson grade I) must be balanced against the risks of removing dura or damaging critical neurovascular structures.

Spinal elastofibroma: a case report.

Elastofibroma is a benign fibroproliferative tumor of unknown origin and pathogenesis. It usually appears in the subscapular or infrascapular area. It is extremely rare in the spinal area, and it is most common in middle-aged women. In most cases, it is asymptomatic. Its diagnosis is based on nuclear MRI, where it presents a homogeneous lesion, similar to the skeletal muscle, hyperintense in T1-weighted sequences and hypointense in T2-weighted sequences. This finding is confirmed with anatomical pathology tests, where it appears as a nonencapsulated lesion made up of wide collagen bands from connective tissue mixed with fat and muscle tissue. The treatment of choice is surgical removal of the lesion. We present a clinical case of elastofibroma, a benign and rare pathology with few described cases in the literature, in a patient with a previous dorsal lesion.