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BMC Neurology Feb 2024Anaplastic ependymoma and H3K27M-mutant diffuse midline glioma are two common subtypes of brain tumors with poor long-term prognosis. The present study analyzed and...
BACKGROUND
Anaplastic ependymoma and H3K27M-mutant diffuse midline glioma are two common subtypes of brain tumors with poor long-term prognosis. The present study analyzed and compared the differences in cell types between two tumors by single-cell RNA sequencing (scRNA-seq) technology.
METHODS
ScRNA-seq was performed to profile cells from cancer tissue from anaplastic ependymoma patient and H3K27M-mutant diffuse midline glioma patient. Cell clustering, marker gene identification, cell type annotation, copy number variation analysis and function analysis of differentially expressed genes were then performed.
RESULTS
A total of 11,219 cells were obtained from anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and these cells categorized into 12 distinct clusters. Each cell cluster could be characterized with specific cell markers to indicate cellular heterogeneity. Five cell types were annotated in each sample, including astrocyte, oligodendrocytes, microglial cell, neural progenitor cell and immune cell. The cluster types and proportion of cell types were not consistent between the two brain tumors. Functional analyses suggest that these cell clusters are involved in tumor-associated pathways, with slight differences in the cells of origin between the two tumors. In addition, cell communication analysis showed that the NRG3-ERBB4 pair is a key Ligand-receptor pair for anaplastic ependymoma, while in H3K27M-mutant diffuse midline glioma it is the PTN-PTPRZ1 pair that establishes contact with other cells.
CONCLUSION
There was intratumor heterogeneity in anaplastic ependymoma and H3K27M mutant diffuse midline glioma, and that the subtype differences may be due to differences in the origin of the cells.
Topics: Humans; Glioma; Histones; DNA Copy Number Variations; Mutation; Brain Neoplasms; Ependymoma; Sequence Analysis, RNA; Receptor-Like Protein Tyrosine Phosphatases, Class 5
PubMed: 38383423
DOI: 10.1186/s12883-024-03558-7 -
Pediatric Neurosurgery 2007To study the outcome and recurrence in supratentorial anaplastic ependymoma.
AIM
To study the outcome and recurrence in supratentorial anaplastic ependymoma.
METHODS
Sixteen cases of supratentorial anaplastic ependymoma were reviewed. The average age of presentation was 8.2 years ranging from 1 to 16 years of age. The mean duration between the onset of first symptoms to time of presentation was 4.2 months. Follow-up ranged from 5 to 58 months with a mean of 16.8 months.
RESULTS
Gross total excision of tumor was achieved in 14 cases, as judged on the basis of intraoperative impression and confirmed with postoperative contrast MR or CT scan. There were 2 unfortunate deaths in the series, one as result of disseminated intravascular coagulation in view of massive blood loss and the other child had evidence of central transtentorial herniation preoperatively which failed to recover. Postoperative cranial radiotherapy was offered to all the 14 remaining cases. Twelve of 14 cases showed evidence of recurrence at follow-up. Recurrence occurred as early at 6 months and as late as 58 months. Only 2 children were recurrence free at follow-up of 6 months and 14 months, respectively. Two operated and irradiated cases of differentiated ependymomas (grade II) developed anaplastic recurrence at follow-up of 5 years and 9 years, respectively, suggesting a malignant transformation of tumor at follow-up. Four out of 12 cases were reoperated for their recurrence in view of localized nature of recurrence and good Karnofsky's performance status.
CONCLUSION
It is obvious that anaplastic ependymomas of the supratentorial compartment are aggressive tumors with high rates of recurrence even after gross total excision and irradiation. Gross total excision and postoperative irradiation are not effective in preventing early recurrence in anaplastic ependymomas, and other factors affecting the outcome need to be analyzed.
Topics: Adolescent; Child; Child, Preschool; Ependymoma; Female; Follow-Up Studies; Humans; Male; Neoplasm Recurrence, Local; Retrospective Studies; Supratentorial Neoplasms
PubMed: 17786000
DOI: 10.1159/000106384 -
Child's Nervous System : ChNS :... Mar 2021Although recurrent anaplastic ependymoma in pediatric patients is not uncommon, recurrent disease leading to widespread metastases to the peritoneum is extremely rare.
BACKGROUND
Although recurrent anaplastic ependymoma in pediatric patients is not uncommon, recurrent disease leading to widespread metastases to the peritoneum is extremely rare.
CASE REPORT
We present a case of an 18-month old male who initially presented with posterior fossa anaplastic ependymoma, who then proceeded to present 1 year later with spinal recurrence, and then 2 years after that with widespread disease involving the intracranial ventricular system and peritoneum.
CONCLUSION
We posit that surgical interventions to treat primary and recurrent presentations in combination with a conduit to the peritoneum via a ventriculoperitoneal shunt contributed to the mechanisms of this complex case.
Topics: Child; Ependymoma; Humans; Infant; Male; Neoplasm Recurrence, Local; Peritoneal Neoplasms; Ventriculoperitoneal Shunt
PubMed: 32681369
DOI: 10.1007/s00381-020-04814-0 -
Journal of Clinical Neuroscience :... Mar 2015Ependymoma is a relatively rare malignancy accounting for 2.0% of all primary central nervous system tumors in adults. Extracranial metastasis is a very uncommon...
Ependymoma is a relatively rare malignancy accounting for 2.0% of all primary central nervous system tumors in adults. Extracranial metastasis is a very uncommon complication of gliomas, especially of anaplastic ependymomas. The objective of this paper is to show that ependymomas can metastasize to soft tissue and lymph nodes as well as to share our approach to this challenge. We report a male patient with anaplastic ependymoma that recurred, metastasizing to the neck and lymph nodes. Metastatic disease was diagnosed based on clinical presentation of a palpable nodule on the right neck and diffuse cervical lymphadenopathies. A biopsy was obtained and pathology revealed anaplastic ependymoma. Whole-body fluorodeoxyglucose positron emission tomography scan showed metastatic disease in the right mastoid region with diffuse uptake in the cervical lymph nodes. Clinical and radiologic response was achieved after three chemotherapy cycles of etoposide, cisplatin, vincristine, and cyclophosphamide. This case highlights extracranial metastasis to the soft tissue as an atypical presentation of recurrent anaplastic ependymoma. Other reported instances of extracranial metastatic ependymoma with this presentation are discussed. The possible metastatic pathways of intracranial disease are discussed. It also illustrates how extracranial disease remains stable with systemic chemotherapy.
Topics: Brain Neoplasms; Ependymoma; Humans; Lymphatic Metastasis; Male; Neck; Soft Tissue Neoplasms; Young Adult
PubMed: 25455735
DOI: 10.1016/j.jocn.2014.09.006 -
Brain Tumor Pathology Jan 2012A case of anaplastic ependymoma of the cerebral hemisphere in which the histopathological features closely simulated those of glioblastoma is reported. The patient was a...
A case of anaplastic ependymoma of the cerebral hemisphere in which the histopathological features closely simulated those of glioblastoma is reported. The patient was a 72-year-old woman with a large, well-demarcated tumor in the left temporal lobe. The tumor was totally extirpated, but recurred 18 months later, and the patient died after 4 months. The extirpated tumor was well circumscribed from the surrounding brain tissue and consisted of a sheet-like, dense proliferation of atypical, short spindle or polygonal cells. Extensive geographic necrosis with nuclear pseudopalisading was seen. Although perivascular pseudorosettes were observed in many areas, true ependymal rosettes were absent. Immunohistochemistry for glial fibrillary acidic protein and epithelial membrane antigen and ultrastructural study confirmed the ependymal nature of tumor cells. The histopathological spectrum of anaplastic ependymoma is very wide and reflects the basically dual characteristics of ependymal cells: epithelial and glial phenotypes. The present case indicates that some anaplastic ependymomas strongly express the glial phenotype and also show remarkable anaplastic cytological features, thus closely simulating glioblastoma. The diagnostic criteria for anaplastic ependymoma, and the nosological position of highly anaplastic ependymoma and its possible clinical implications, are briefly discussed.
Topics: Aged; Brain Neoplasms; Cerebrum; Diagnosis, Differential; Ependymoma; Fatal Outcome; Female; Glioblastoma; Humans; Immunohistochemistry; Neoplasm Recurrence, Local
PubMed: 21833575
DOI: 10.1007/s10014-011-0057-x -
Current Neurology and Neuroscience... May 2010Ependymomas are rare primary central nervous system tumors in adults. They occur most commonly in the spinal cord, where histopathologic evaluation is critical to... (Review)
Review
Ependymomas are rare primary central nervous system tumors in adults. They occur most commonly in the spinal cord, where histopathologic evaluation is critical to differentiate the grade I myxopapillary ependymoma from the grade II ependymoma or grade III anaplastic ependymoma. Brain ependymomas are either grade II or III. Treatment for all grades and types includes maximum surgical resection. For myxopapillary ependymoma, complete removal while maintaining capsule integrity may be curative. Some grade II ependymomas may be observed carefully after imaging confirms complete resection, but grade III tumors require adjuvant radiation treatment. Radiation commonly is given to the region of tumor, except in cases in which there is imaging or cerebrospinal fluid evidence of tumor dissemination. Chemotherapy has not been studied extensively, although most reports suggest only modest benefit. Ongoing laboratory studies have uncovered important signal transduction pathways that may be better therapeutic targets, leading to the development of clinical trials using targeted agents.
Topics: Adult; Central Nervous System Neoplasms; Ependymoma; Epigenesis, Genetic; Humans
PubMed: 20425040
DOI: 10.1007/s11910-010-0109-3 -
International Journal of Surgical... Oct 2017Ependymomas are glial neoplasms with rare cases exhibiting neuronal differentiation. We describe a case of spinal anaplastic ependymoma with ganglionic differentiation...
Ependymomas are glial neoplasms with rare cases exhibiting neuronal differentiation. We describe a case of spinal anaplastic ependymoma with ganglionic differentiation in a 28-year-old woman. The ganglionic component was labeled by synaptophysin, whereas the rest of the tumor showed features of an anaplastic ependymoma. Stem cell marker MELK was noted to stain both the neoplastic ependymal and ganglionic components, possibly suggesting a stem cell/progenitor origin for the tumor with subsequent divergent differentiation.
Topics: Adult; Cell Differentiation; Ependymoma; Female; Ganglia, Spinal; Humans; Magnetic Resonance Imaging; Neoplasm Grading; Protein Serine-Threonine Kinases; Proto-Oncogene Proteins B-raf; Spinal Cord Neoplasms; Thoracic Vertebrae
PubMed: 28554236
DOI: 10.1177/1066896917710716 -
The American Journal of Forensic... Sep 2019Primary central nervous system tumors are an extremely rare cause of sudden, unexpected death in children as most patients develop symptoms because of increased...
Primary central nervous system tumors are an extremely rare cause of sudden, unexpected death in children as most patients develop symptoms because of increased intracranial pressure and seek medical attention. Rarely, a forensic pathologist may encounter a primary intracranial neoplasm in a pediatric decedent that was not suspected before death. Herein, we present a case of a supratentorial neuroepithelial tumor found at autopsy in a 3-year-old African American boy without any reported significant medical history. The tumor had significant mass effect and caused cerebral edema, which ultimately resulted in transtentorial herniation and death. The gross, histopathological, immunohistochemical, and ultrastructural findings were most consistent with an anaplastic ependymoma.
Topics: Child, Preschool; Death, Sudden; Ependymoma; Humans; Immunohistochemistry; Male; Microscopy; Microscopy, Electron, Transmission; Supratentorial Neoplasms
PubMed: 30958386
DOI: 10.1097/PAF.0000000000000480 -
Child's Nervous System : ChNS :... Aug 2021Pediatric ependymomas comprise biologically distinct tumor entities with different (epi)genetics, age distribution and localization, as well as a different prognosis.... (Review)
Review
Pediatric ependymomas comprise biologically distinct tumor entities with different (epi)genetics, age distribution and localization, as well as a different prognosis. Regarding risk stratification within these biologically defined entities, histopathological features still seem to be relevant. The mainstay of treatment is gross total resection (GTR) if possible, achieved with intraoperative monitoring and neuronavigation-and if necessary second surgery-followed by adjuvant radiation therapy. However, there is growing evidence that some ependymal tumors may be cured by surgery alone, while others relapse despite adjuvant treatment. To date, the role of chemotherapy is not clear. Current therapy achieves reasonable survival rates for the majority of ependymoma patients. The next challenge is to go beyond initial tumor control and use risk-adapted therapy to reduce secondary effect and therapy-induced morbidity for low-risk patients and to intensify treatment for high-risk patients. With identification of specific alterations, targeted therapy may represent an option for individualized treatment modalities in the future.
Topics: Child; Ependymoma; Humans; Morbidity; Neoplasm Recurrence, Local; Prognosis; Survival Rate
PubMed: 34008056
DOI: 10.1007/s00381-021-05207-7 -
Neurology India 2023Lipogenic differentiation in ependymoma is an infrequent occurrence with very few reported cases. The grading was done solely based on the histomorphology and molecular...
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.
Topics: Female; Humans; Middle Aged; Transcription Factor RelA; Supratentorial Neoplasms; Ependymoma; Immunohistochemistry; DNA-Binding Proteins; Nuclear Proteins; Transcription Factors; Proteins
PubMed: 37929446
DOI: 10.4103/0028-3886.388099