Embryonal tumor with multilayered rosettes in a teenager

ABSTRACT Background Embryonal tumor with multilayered rosettes (ETMR), NOS/C19MC- altered, is a rare and recently classified highly aggressive malignant brain tumor in the 2021 World Health Organization (WHO) classification of tumors of the central nervous system 5th edition. They are mostly diagnosed in children before the age of three years. Most of them are located in the supratentorial region. Prior to the reclassification of ETMR as a single entity, three distinct tumors, namely, embryonal tumor with abundant neuropil and true rosettes (ETANTR), ependymoblastoma (EBL) and medulloepithelioma (MEPL) were recognized. Recent studies showed that all the three entities have multilayered rosettes on morphology, sharing a common amplification of the C19MC locus at the chromosome 19q13.42 by fluorescence in situ hybridization, and highly specific immunohistochemical staining for LIN28A rendered their reclassification as a single entity. Report: A 13-year-old girl was rushed to the emergency room unconscious, with no return of spontaneous circulation after cardiopulmonary resuscitation. Autopsy revealed a left cerebellar hemisphere hemorrhagic tumor which histopathological examination revealed a multilayered ependymoblastic rosettes with abundant neuropil. The multilayered rosettes showed reactivity for vimentin but non-reactivity for pan-cytokeratin, the zones with abundant neuropil were reactive for synaptophysin consistent with a diagnosis of embryonal tumor with abundant neuropil and true rosettes now ETMR, NOS (WHO Grade 4) due to the lack of genetic testing for amplification of C19MC. Conclusion: ETMR is a highly aggressive CNS embryonal tumor with extremely poor prognosis. It should be considered in the differential diagnosis of pediatric brain tumors. Multilayered rosettes are a useful clue to histologic diagnosis.

Erdheim-Chester disease presenting at the central nervous system

Erdheim-Chester disease is a rare non-Langerhans cell histiocytosis (LCH) that affects different body systems. It was recently recognized as a neoplastic disorder after identifying an activating mutation of the MAPK pathway. Neurological presentations of ECD are rare. We present a case of a 35-year-old male who presented to the emergency department with neck pain, headache and vomiting for 2 months; MRI showed multiple heterogeneous intracranial masses. Neurosurgery performed a suboccipital craniotomy, partially resected the cerebellar mass, and placed a parietal to frontal shunt catheter. Biopsy results from the cerebellar mass demonstrated cerebellar tissue involved by a diffuse proliferation of foamy histiocytes and spindle cells admixed with prominent lymphoplasmacytic infiltrate and positive for CD68, CD163, Factor XIIIa and Fascin. PET scan showed hypermetabolic uptake within the medullary portions of the diffuse abnormal lesions of the distal femurs, tibias, and fibulas, and cardiac MRI was nonsignificant. The patient was started on vemurafenib and continued to show improvement in a 3-month outpatient follow-up.

Hemangioblastoma cerebeloso y trombocitopenia: reporte de caso / Cerebellar hemangioblastoma and thrombocytopenia: report of one case

The association between vascular tumors and thrombocytopenia is rare. Kasabach-Merritt Syndrome is seen in childhood and is characterized by hemangiomas and thrombocytopenia. A 42 years-old man with a cerebellar hemangioblastoma and thrombocytopenia, admitted with a subarachnoid hemorrhage is reported. The patient was operated and required a splenectomy to manage the thrombocytopenia. After the splenectomy the patient developed a subdural hematoma that was operated. Despite the surgical treatment, the patient died.

A Case of Cerebellar Metastasis Mimicking Vestibular Neuritis / 대한평형의학회지

Vestibular neuritis is characterized by rapid onset of vertigo, nausea and vomiting without neurological symptoms or signs, but central vestibular lesions can cause similar symptoms and signs. A 66-year-old woman previously diagnosed with ovarian cancer initially presented with vertigo. The patient had typical symptoms and signs of vestibular neuritis. As time proceeded, the patient presented with bilateral catch-up saccade and the symptoms and signs of cerebellar dysfunction. Magnetic resonance image and computed tomography scan showed brain metastasis surrounded by edematous lesion. We report an ovarian cancer patient with metastasis mimicking vestibular neuritis with a review of related literature.

Analysis of clinical treatment and prognosis of adult medulloblastoma / 中华神经科杂志

Objective To analyze the clinical manifestations,treatment and prognosis of adult medulloblastoma (MB).Methods A total of 163 cases of adult MB,confirmed by surgical and pathological diagnosis,were retrospectively analyzed about the clinical manifestations,imaging,treatment and prognosis.There are 108 males and 55 females in the group,whose average age was 28.6-year-old.Results The main clinical manifestations include headache,nausea,vomiting,dizziness,gait disturbance,hypopsia,diplopia,hearing loss and cerebellum crisis.Gross total resection was achieved in 90 cases,subtotal resection in 67 cases and biopsy in 6 cases.Survival time from surgery to progression or death or the last date of follow-up were measured and estimated by the Kaplan-Meier method.Among a total of 160 follow-up patients with MB,postoperative overall survival time was from 7 to 170 months,median survival time was (127±6) months (95％ CI 115.3-138.68).The 5-year overall survival time of adult MB patients was 73.1％ (120/163).The log-rank test was used to compare the significance of the following prognostic variables.Among all clinical factors,patients undergoing the craniospinal irradiation had a significantly better survival rate than those without this treatment (44 months vs 34 months,x2 =8.712,P =0.003).Conclusion Good therapeutic effect of MB be achieved by adopting surgical resection with early enough craniospinal irradiation.Recurrence and metastasis are the two main factors for bad prognosis in adult MB.

Management of Intractable Cerebrospinal Fluid Collection after Cerebellar Tumor Resection: A Case Report

PURPOSE: CSF (Cerebrospinal fluid) leakage is the most common complication of neurosurgery. Early management with conservative care or surgery must be followed appropriately due to the increased risk of lethal complications, such as meningitis. We report a case of intractable CSF leakage that occurred after a cerebellar tumor resection, which was treated successfully. METHODS: A 53-year old male consulted our department for continuous CSF leakage for 3 months after having received conservative care and lumbar drainage. CSF collection was observed in the dead space of the posterior fossa after a cerebellar tumor resection and postoperative radiotherapy. Using a free latissimus dorsi muscle flap, the dead space within the skull was filled and the defects were covered successfully. RESULTS: At 6 weeks after surgery, the follow-up MRI and CT revealed proper coverage and filling in the area where cerebellar tumor had been removed. No CSF leakage was observed at the postoperative 3 month follow-up. CONCLUSION: Recurrent CSF leakage was treated after cerebellar tumor resection with a relatively satisfactory result. In terms of the patient's treatment, much better results can be achieved by performing dead space filling using a flap with a sufficient size, in addition to coverage of the defects of the dura.

Meduloblastoma nodular: achados de imagem de uma rara variante: relato de caso / Medulloblastoma with extensive nodularity: imaging findings of a rare variant: a case report

Meduloblastoma é o tumor maligno do sistema nervoso central mais comum na faixa etária pediátrica, bem como o tumor primário mais comum na fossa posterior em crianças, apresentando-segeralmente entre 5 e 12 anos de idade. O quadro clínico é caracterizado principalmente por hipertensãointracraniana e ataxia. O meduloblastoma nodular, relatado a seguir, é um raro subtipo que acomete crianças mais jovens, habitualmente menores de três anos, porém com melhor prognóstico. Apresenta-se tipicamente como lesão cística em fossa posterior, com componentes sólidosnodulares que realçam ao contraste, agregados em ôcacho de uvaõ. Este achado de imagem pode sugerir o diagnóstico pré-operatório correto.

Medulloblastoma is the most common malignant central nervous system tumor in pediatric patients and the most common primary tumor in the posterior fossa in children, most manifest in patients 5-12 years of age. Clinical features are mainly characterized byintracranial hypertension and ataxia. The authors present a case of medulloblastoma with extensive nodularity, a rare variant which affects younger age usually under three years, with more favorable prognosis. It is typically a cystic lesion in the posterior fossa with solid nodular components that enhance after contrast, like ôbunchof grapesõ clusters. Preoperative diagnosis could be suggested by this finding.

Malignant Glioma Arising at the Site of an Excised Cerebellar Hemangioblastoma after Irradiation in a von Hippel-Lindau Disease Patient

We describe herein a malignant glioma arising at the site of the resected hemangioblastoma after irradiation in a patient with von Hippel-Lindau disease (VHL). The patient was a 25 year-old male with multiple hemangioblastomas at the cerebellum and spinal cord, multiple pancreatic cysts and a renal cell carcinoma; he was diagnosed as having VHL disease. The largest hemangioblastoma at the right cerebellar hemisphere was completely removed, and he received high-dose irradiation postoperatively. The tumor recurred at the same site 7 years later, which was a malignant glioma with no evidence of hemangioblastoma. The malignant glioma showed molecular genetic profiles of radiation-induced tumors because of its diffuse p53 immunostaining and the loss of p16 immunoreactivity. The genetic study to find the loss of heterozygosity (LOH) of VHL gene revealed that only the cerebellar hemangioblastoma showed allelic losses for the gene. To the best of our knowledge, this report is the first to show a malignant glioma that developed in a patient with VHL disease after radiation therapy at the site of an excised hemangioblastoma. This report also suggests that radiation therapy should be performed very carefully in VHL patients with hemangioblastomas.

The reasons and preventive messures of early hydrocephalus after surgery for posterior cranial fossa tumors / 中国基层医药

Objective To analyse the possible reasons of early hydrocephalus after surgery for posterior cranial fossa tumors,and put forward the preventive messures against this complication.Methods Clinical data of 18 cases of early hydrocephalus after surgery for posterior cranial fossa tumors were analysed retrospectively.Results All the patients were in good state within 24 hours after surgery,but a series of symptoms,such as disturbance of consciousness,headache and vomiting,occurred.CT scanning showed hydrocephalus.After the comprehensive treatment including ventricular duainage,16 patients were healed.2 cases died.Conclusions Post-operative cerebellar edema,intracranial hematoma or hydrops,residual tumor,might be the possible cause of this disease.Preventive messures against this complication might include protecting brain tissues during operations,hemostasis and comprehensive treatment after operations.