BACKGROUND: Digital pathology practice is rapidly gaining popularity among practicing anatomic pathologists. Acceptance is higher among the newer generation of pathologists who are willing to adapt to this new diagnostic method due to the advantages offered by whole slide imaging (WSI) compared to traditional light microscopy (TLM). We performed this validation study because we plan to implement the WSI system for diagnostic services. OBJECTIVES: Determine the feasibility of using digital pathology for diagnostic services by assessing the equivalency of WSI and TLM. DESIGN: A laboratory-based cross-sectional study. SETTING: Central laboratory at a tertiary health care center. MATERIALS AND METHODS: Four practicing surgical pathologists participated in this study. Each pathologist blindly reviewed 60 surgical neuropathology cases with a minimum 8-week washout-period between the two diagnostic modalities (WSI vs. TLM). Intraobserver concordance rates between WSI and TLM diagnoses as compared to the original diagnosis were calculated. MAIN OUTCOME MEASURES: Overall intraobserver concordance rates between each diagnostic method (WSI and TLM) and original diagnosis. SAMPLE SIZE: 60 in-house surgical neuropathology cases. RESULTS: The overall intraobserver concordance rate between TLM and original diagnosis was 86.3% (range 76.7%-91.7%) versus 80.8% for WSI (range 68.3%-88.3%). These findings are suggestive of the superiority of TLM, but the Fleiss' Kappa statistic indicated that the two methods are equivalent, despite the low level of the K value. CONCLUSION: WSI is not inferior to the light microscopy and is feasible for primary diagnosis in surgical neuropathology. However, to ensure the best results, only formally trained neuropathologists should handle the digital neuropathology service. LIMITATIONS: Only one diagnostic slide per case rather than the whole set of slides, sample size was relatively small, and there was an insufficient number of participating neuropathologists. CONFLICT OF INTEREST: None.
Background: Primary spinal glioblastomas are extremely rare neoplasms and account for only 0.2% of glioblastoma cases. Due to the rare incidence of spinal cord glioblastoma in the literature, its natural history/ outcome remains undetermined. The present article describes the clinical presentation, radiological/pathological characteristics, and outcome of the primary spinal cord glioblastoma. Case Description: Two young patients initially presented with paresis that rapidly progressed to paraplegia. Nondermatomal sensory deficits were also noted, mainly affecting the lower limbs. Neuroradiological imaging revealed an extensive intramedullary spinal cord lesion, with no evidence of concurrent intracranial space-occupying lesions. Thoracic laminectomy, followed by tumor debulking and/or biopsy, was performed. The histomorphology was suggestive of glioblastoma, the World Health Organization grade 4 (Isocitrate Dehydrogenase-wild type). They were discharged in stable condition and were started on chemoradiotherapy, with clinicoradiological follow-up. One patient passed away after 9 months of initial presentation. The other patient was alive at 6-month follow-up. Conclusion: Primary spinal glioblastoma is a rare and challenging tumor. Patients commonly present with a progressive paresis, resulting in paraplegia, regardless of the surgical resection extent, and received adjuvant chemotherapy. Therefore, primary spinal cord glioblastoma should be considered in patients reporting a rapid lower limb weakness with neuroradiological evidence of extensive, exophytic intramedullary lesion of the spine. A biopsy-proven histopathological diagnosis is of indisputable importance to establish the final diagnosis and plan treatment options.
This is a 15-year-old female who presented with sudden onset left flank pain associated with nausea and vomiting and a history of weight loss. Radiological investigation revealed a large non-obstructive tumor involving the lower pole of the left kidney which was primarily thought to be a renal cell carcinoma. She underwent left open radical nephrectomy with adrenalectomy. Histopathology of the resected specimen showed features of Ewing’s sarcoma of the kidney which was confirmed by cytogenetic analysis. This is a rare disease especially in the pediatric group and in reporting such a rare case we hope it helps in identifying a potential course of the disease and its response to the involved treatment.
Ependymoma is a circumscribed glioma composed of uniform glial cells with bland nuclei in a fibrillary matrix. It is characterized by the presence of perivascular pseudorosettes. Unusual histopathological findings have rarely been reported in ependymomas, 0.5% of all diagnosed cases. Such unusual and exceedingly rare histological findings include osseous or chondroid metaplasia. To the best of our knowledge, only 15 cases of osseocartilaginous ependymomas have been reported in English literature. We report a 3-year-old boy who presented with ataxia, vomiting, and headache for three months. Radiological imaging revealed a posterior fossa lesion. Histopathological examination of the lesion confirmed a posterior fossa ependymoma with chondro-osseous metaplasia. The present case outlines the clinical presentation, histopathological findings, and outcome of chondro-osseous metaplasia in ependymomas. To date, the etiology of chondro-osseous metaplasia in ependymomas remains uncertain. Further research exploring such phenomenon is of paramount importance to explain how these tumors develop.
Background: Sellar xanthogranulomas are rare intracranial lesions comprising <1% of all sellar lesions. They were described as a separate entity by the World Health Organization in 2000. Because of the paucity of sellar xanthogranuloma cases reported in the literature, they remain a diagnostic challenge with indefinite origin, clinical course, and outcome. The present study reports a case of sellar xanthogranuloma describing the clinical presentation, radiological/pathological characteristics, and outcome. Case Description: A 43-year-old female, known to have diabetes, hypothyroidism, and polycystic ovarian syndrome, presented with a 2-week history of sudden right-sided facial deviation, periorbital pain, and moderate-intensity headache. The patient also reported amenorrhea not improving with polycystic ovarian syndrome treatment. Neurologic examination showed bilateral visual field defects and impaired visual acuity. Computed tomography scan, without contrast, revealed a hypodense sellar lesion with areas of hyperdensity. Magnetic resonance imaging showed a well-defined sellar lesion, exhibiting high signals on T1-weighted and T2-weighted images. The patient underwent microscopic trans-nasal trans-sphenoidal excision of the lesion. Histological sections of the sellar lesion revealed fibrous connective tissue with chronic inflammatory cells and cholesterol clefts, suggestive of xanthogranuloma. The patient is currently followed up at neurosurgery, endocrinology, and ophthalmology clinics with periodic laboratory/radiological investigations. Conclusion: Sellar xanthogranulomas remain rare intracranial lesions with few cases reported in the literature. Patients mostly present with severe hypopituitarism and visual dysfunction. They show no characteristic radiological features. The diagnosis is confirmed histopathologically, and the prognosis is generally favorable.
Background: Idiopathic spinal epidural arachnoid cysts (SEACs) are rare and may cause myelopathy and cord compression. They typically arise from a congenital defect in the dura that communicates with the intrathecal subarachnoid space. Although the ideal treatment of SEACs is direct dural repair and cyst excision, there is as yet no clear standard of care for the management of these lesions. Methods: A 47-year-old female presented with myelopathy attributed to an magnetic resonance imaging-documented posterior epidural T12-L2 cyst (i.e., 1.1 × 6 × 3.3 cm) lesion. The patient underwent a direct dural repair of the fistulous communication between the subarachnoid space and the cyst, along with cyst drainage/ excision through a right-sided laminotomy. Postoperatively, the patient was asymptomatic. We additionally reviewed the literature regarding the management of SEACs. Results: Our review yielded 14 articles involving 18 patients with predominantly thoracolumbar (57%) SEACs that were either communicating (61%) or not communicating (39%) with the subarachnoid space. They averaged 35.5 years of age and exhibited a male preponderance (66%). Symptoms typically included pain (78%), followed by weakness/myelopathy (42%). Surgery frequently included bilateral laminectomies (57%) followed by unilateral laminectomies (50%) that typically resulted in symptom resolution. Conclusion: SEACs are rare typically thoracolumbar lesions that may cause myelopathy which resolves following direct dural closure/subarachnoid fistulous occlusion
Objectives: To clarify the spectrum of morphological and molecular subtypes of medulloblastoma (MBL), in addition to MYC and MYCN amplification statuses in a cohort of Saudi patients. The latter was correlated with patient outcome. Methods:We conducted a retrospective cohort study of 57 patients with MBL, diagnosed at the central laboratory of King Abdulaziz Medical City in Riyadh, Saudi Arabia, between 2006 and 2019. Molecular analysis for MYC and MYCN amplification was performed for the 19 most recently diagnosed patients.Results: Classic MBL was the most prevalent histologic subtype and MBL with extensive nodularity was the rarest. The non-WNT/non-SHH molecular subgroup was the most common while the WNT-activated was the least common. Among 19 patients analyzed, MYC and MYCN amplifications were discovered in 2 (10.5%) and 1 (5.3%) cases, respectively, using interphase fluorescence in-situ hybridization. The 2 MYC amplified cases belonged to the large cell/ anaplastic subtype and had the worst outcomes. Conclusion:The MYC amplification corresponded with poor prognosis, the large cell/anaplastic variant of MBL, and the non-WNT/non-SHH molecular subtype.
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