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Ependymomas (EPN) show site specific genetic alterations and a recent DNA methylation profiling study identified nine molecular subgroups. C11orf95-RELA and YAP1 fusions characterise the RELA and YAP1 molecular subgroups, respectively, of supratentorial (ST)-EPNs. Current guidelines recommend molecular subgrouping over histological grade for accurate prognostication. Clinicopathological features of ST-EPNs in correlation with C11orf95-RELA and YAP1 fusions have been assessed in only few studies. We aimed to study these fusions in EPNs, and identify diagnostic and prognostic markers. qRT-PCR and Sanger Sequencing for the detection of C11orf95-RELA, YAP1-MAMLD1 and YAP1-FAM118B fusion transcripts, gene expression analysis for NFKB1, and immunohistochemistry for p53, MIB-1, nestin, VEGF, and L1CAM were performed. 88 EPNs (10-Grade I and 78-Grade II/III) from all sites were included. RELA fusions were unique to Grade II/III ST-EPNs, detected in 81.4% (22/27) and 18.5% (5/27) of pediatric and adult ST-EPNs respectively. ST-EPNs harbouring RELA fusions showed frequent grade III histology (81.5%), clear cell morphology (70.3%), upregulated NFKB1 expression, MIB-1 labelling indices (LI) ≥ 10% (77.8%), and immunopositivity for nestin (95.7%), VEGF (72%), L1CAM (79%), and p53 (64%). Presence of RELA fusions, L1CAM immunopositivity and MIB-1 LI ≥ 10% associated with poor outcome. L1CAM showed 81% concordance with RELA fusions. YAP1-MAMLD1 fusion was identified in a single RELA fusion negative adult anaplastic ST-EPN. RELA fusions are frequent in ST-EPNs and associate with poor outcome. L1CAM is a surrogate immunohistochemical marker. RELA fusion positive ST-EPNs strongly express nestin indicating increased stemness. Further evaluation of the interactions between NFKB and stem cell pathways is warranted. [ABSTRACT FROM AUTHOR]

Intradiploic meningioma is a rare subset of meningioma accounting for 1% of all cases. Authors report a rare case of giant sphenotemporal intradiploic meningioma with orbital extension in a 27-year-old female. It was managed successfully with complete surgical excision and bony reconstruction using autologous split thickness bone graft. [ABSTRACT FROM AUTHOR]

Rosai-Dorfman disease (RDD) is a rare, idiopathic, benign histioproliferative disorder. Extranodal involvement is seen in around 25-40% of patients. Central nervous system manifestation of RDD is uncommon and suprasellar location of the lesion is a distinct rarity. Surgery is the cornerstone of management of intracranial RDD. However, tumor recurrence or regrowth is a potential problem. Hence, low dose conformal radiotherapy (RT) should be considered in patients undergoing sub-total resection or having unresectable recurrent disease. Though cranial RT usually leads to satisfactory improvement of symptoms and long-term disease stabilization or regression, in few patients there may be an eventual progression of disease for which systemic chemotherapy may be considered. We have highlighted the salient features of this enigmatic disease by citing a case of a 50-year-old male patient with suprasellar RDD treated by maximal safe surgery and deferred radiation therapy on progression. [ABSTRACT FROM AUTHOR]

Spinal cysticercosis is a very uncommon manifestation of neurocysticercosis, which is caused by the larvae of Taenia solium. Here, we present a rare case of isolated lumbar intradural extramedullary neurocysticercosis, initially thought to be Tarlov cyst. A 40-year-old man, presented with low backache for 1-year with radiation of pain to right leg for 3 months. The patient was treated successfully with the surgical removal of the cyst, followed by medical treatment. Spinal neurocysticercosis should be considered in the differential diagnosis in high-risk populations, with new symptoms suggestive of a spinal mass lesion. [ABSTRACT FROM AUTHOR]

Neuroblastoma-like schwannoma is an extremely rare histological variant of schwannoma, which histologically mimics a malignant small round cell tumor. Only 19 cases have been reported in the literature to date. We report a case of this tumor located at the skull base in a 44-year-old woman who presented with symptoms of right-sided earache and hearing loss. MRI revealed a large, lobulated, extra-axial mass measuring 8.8 cm × 3.6 cm × 4.2 cm in the floor of the middle and posterior cranial fossa. Microscopic examination revealed a perplexing histopathology with peculiar collagenous rosettes. Differential diagnoses included a broad range of benign and malignant tumors. Typical schwannoma seldom poses a difficulty in diagnosis; however, this unusual variant is a diagnostic challenge which requires an extensive clinico-radiological correlation and immunohistochemical work-up. Hence, knowledge of this entity is a must to avoid erroneous diagnosis and inappropriate treatment. [ABSTRACT FROM AUTHOR]

Aims: Primary skull bone tumors, benign or malignant, are rare, and include a vast repertoire of lesions. These tumors are not reported systematically in the literature, with most studies being on individual entities or as single case reports. Methods: Primary bone tumors diagnosed over a period of 12 years were retrieved, histological diagnoses reviewed, and clinical parameters noted. Results: We identified 125 primary skull bone tumors. The mean age at diagnosis was 32 years (range: 2-65 years). Majority of patients were adults (82.4%); male preponderance was noted (72.8%). Malignant tumors were more frequent than benign tumors. Most common malignant tumor was chordoma (n = 37), while most common benign tumor was osteoma (n = 7). Tumors were most frequently located at the skull base, of which clivus was most common location. Chordomas accounted for majority of clival tumors, while chondrosarcoma predominated at other skull base locations. Benign tumors were extremely rare in skull base. Tumors of the vault bones were infrequent; with chondrosarcoma and osteoma being the most common malignant and benign tumors, respectively. Conclusions: This is the largest series of primary skull bone tumors from India. Documentation of such a series will aid in approaching differential diagnosis of skull tumors in a systematic manner. [ABSTRACT FROM AUTHOR]

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system neoplasm affecting children, and isolated primary spinal involvement is extremely rare. Authors describe a case of spinal AT/RT in a 5‑year‑old male child presenting with rapidly progressing quadriparesis diagnosed and managed surgically and medically. Biopsy revealed large, rhabdoid cells with prominent nucleoli in nest and immunohistochemistry further showed loss of integrase integrator 1 expression considered to be gold standard for diagnosis. AT/RT has extremely poor prognosis with median survival being 6 months. [ABSTRACT FROM AUTHOR]

Lipogenic differentiation in ependymoma is an infrequent occurrence with very few reported cases. The grading was done solely based on the histomorphology and molecular subtyping was not described in such ependymomas. New molecular classification divided ependymomas in nine different subgroups, of which supratentorial location tumor usually exhibits C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B fusion proteins. A 46-year-old female presented with headache and right-sided parapresis. Radilogy revealed a large intraxial left parietooccipital mass lesion, which histologically and immuohistochemically confirmed as anaplastic ependymoma with extensive lipogenic changes. The ependymal origin of the tumor was corroborated by the immunohistochemistry and ultrastructural studies. Molecular studies for C11orf95-RELA, YAP1-MAMLD1, and YAP1-FAM118B fusion proteins were negative. This is the first documentation of fusion negative supratentorial anaplastic ependymoma with lipogenic differentiation. This novel finding needs further reinforcement by similar studies to identify its impact on the disease outcome. [ABSTRACT FROM AUTHOR]

There is lack of data on outcome of limited stage pediatric non-Hodgkin lymphoma (NHL) from south Asia. In view of this lacuna, authors evaluated patients of early stage (stage 1 and 2) non-lymphoblastic pediatric NHL patients treated with uniform short course, reduced-intensity protocol from Jan 2003 through Dec 2016. Of the total 280 subjects with pediatric NHL, 50 were of early stage of which 42 received uniform protocol. B-cell subtype was observed in 83% patients. Event-free-survival (EFS) and overall-survival (OS) were 85% and 90% respectively at 5 y (median-not reached). Age > 13 y emerged as the only poor risk factor for EFS (p = 0.05) on univariate analysis and same had a trend toward inferior prognosis in OS (p = 0.09). Vincristine-induced neuropathy occurred in five patients. Febrile neutropenia was observed in 16% subjects with one patient requiring hospitalization. There was no treatment-related death. This largest data of limited stage pediatric non-lymphoblastic NHL from south Asia highlights that good outcomes may be achieved with less intense short course therapy without hospitalization, and that adolescent age is the only poor prognostic factor for outcome. [ABSTRACT FROM AUTHOR]