Presentation
Presently, there are no specific methods or guidelines to prevent the formation of RELA Fusion-Positive Ependymoma type. [dovemed.com]
In this paper, we present a rare case of anaplastic ependymoma with widespread extraneural metastasis. [ncbi.nlm.nih.gov]
Gamboa et al. from the Clinical Neurosciences Center, University of Utah, Salt Lake City, present the case of a patient with RELA-fusion positive ependymoma of the frontal lobe in whom they used preoperative and intraoperative MR perfusion imaging. [operativeneurosurgery.com]
Case Reports C11orf95-RELA fusion present in a primary supratentorial ependymoma and recurrent sarcoma David Cachia et al. Brain Tumor Pathol. 2015 Apr. [pubmed.ncbi.nlm.nih.gov]
Jünger Present address: Department of Neurosurgery, University of Cologne Medical Center, Cologne, Germany Felipe Andreiuolo Present address: Instituto Estadual Do Cérebro Paulo Niemeyer and the IDOR Institute, Rio de Janeiro, Brazil Valentina Zschernack [link.springer.com]
Immune System
- Splenomegaly
A second case of ReLA haploinsufficiency was reported to have a very different phenotype consistent with autoimmune lymphoproliferative syndrome, cytopenia, recurrent aseptic meningitis, and splenomegaly. [sciencedirect.com]
Hematological
- Easy Bruising
bruising Infertility Radiation therapy can cause short-term side effects. [dovemed.com]
Entire Body System
- Infertility
[…] osteoclast activity), growth retardation and muscle wasting (inhibition of the mTOR pathway, increased expression of FOXO, and enhanced ubiquitin-proteasome activity), skin thinning (less collagen), increased fat deposition (moon face and fat belly), infertility [sciencedirect.com]
[…] particularly in case of partial tumor removals Chemotherapy side effects depend on the type of chemotherapy medication used and may include: Nausea and vomiting Hair loss Mouth sores Loss of appetite Diarrhea Fatigue Increased risk for infections Easy bruising Infertility [dovemed.com]
- Disability
severe or untreated hydrocephalus can result in lethargy, irritability, nausea and vomiting, loss of balance, seizures, urinary incontinence, and growth delays, among other symptoms Large undetected tumors can severely affect brain function and be disabling [dovemed.com]
- Chills
The common chemotherapy side effects include nausea, vomiting, hair loss, loss of appetite, headache, fever, chills, and weakness. [dovemed.com]
Cardiovascular
- Chest Pain
[…] and/or chest pain Numbness and tingling sensation Weakness of the body or lower extremities; loss of strength in the arms of legs Pain in the arms and legs, depending on the nerves that are compressed by the tumor Severe cases may result in loss of bowel [dovemed.com]
Musculoskeletal
- Limping Gait
On physical examination, grade IV+ motor weakness in the right upper extremity and limping gait of the right leg were noted. [ncbi.nlm.nih.gov]
- Arthritis
Adverse effects of glucocorticoid agonists In order to suppress chronic inflammation, as occurs in asthma or rheumatoid arthritis, glucocorticoid agonists such as dexamethasone, prednisone, prednisolone, or fludrocortisone are applied systemically. [sciencedirect.com]
Face, Head & Neck
- Scalp Mass
Excision of the scalp masses and needle biopsy of the liver were performed for diagnostic and palliative purpose (Fig. 3). The tumors were pathologically confirmed as mestastatic anaplastic ependymoma. [ncbi.nlm.nih.gov]
Urogenital
- Incontinence
[…] mental stress for both the patients and the caretakers, due to the diagnosis and treatment of a brain tumor In children, severe or untreated hydrocephalus can result in lethargy, irritability, nausea and vomiting, loss of balance, seizures, urinary incontinence [dovemed.com]
- Urinary Incontinence
incontinence, and growth delays, among other symptoms Large undetected tumors can severely affect brain function and be disabling or even life-threatening, due to mass effect/compression of brain tissue Large tumors may also press against the skull [dovemed.com]
Neurologic
- Tremor
Additionally, in some individuals the following may be noted: Loss of appetite Inability to distinguish between various colors Hearing impairment or hearing loss Speech problems Insomnia or loss of sleep, or excessive sleepiness (usually during daytime) Tremors [dovemed.com]
Workup
The extent of histological and, especially, molecular genetic workup has been substantially increased over the past years. [gpoh.de]
[…] tumors are isointense or slightly hypointense to the surrounding spinal cord on T1-weighted images; most tumors are hyperintense to the spinal cord on T2-weighted images Other diagnostic modalities that may be helpful include the following: EEG See Workup [emedicine.medscape.com]
Serum
- Cytopenia
In contrast, Comrie et al. describe a patient with lymphadenopathy, autoimmune cytopenias, and increased T cell proliferation and effector function. [sciencedirect.com]
Biopsy
- Liver Biopsy
Microscopic finding and immuohistochemical and fluorescence in-situ hybridization studies of metastatic ependymoma to the liver. (A) Results of the liver biopsy reveal metastatic anaplastic ependymoma. [ncbi.nlm.nih.gov]
Treatment
Recurring tumors have worse prognosis compared to tumors that do not recur Response to treatment and absence of post-operative complications: Tumors that respond to treatment have better prognosis compared to tumors that do not respond to treatment Progression [dovemed.com]
As part of your treatment, your doctor might ask you to take part in a clinical trial. This might be to test a new treatment or look at different combinations of existing treatments. [cancerresearchuk.org]
Four to 5 years after treatment: Every 6 months. More than 5 years after treatment: Annually because of the high incidence of late recurrences. [cancer.gov]
[…] and 6 months after the completion of their treatment - No contraindication to the use if one of the study drugs proposed by the protocol - Patients and/or their parents or legal guardians willing and able to comply with scheduled visits, treatment plan [archimaid.fr]
Prognosis
[…] can have focal clear cell change) Tanycytic: ependymal cells arranged in elongated fascicles YAP1 fusion positive supratentorial ependymomas (good prognosis): YAP1+ Infratentorial compartment / posterior fossa Posterior fossa ependymoma type A (poor prognosis [pathologyoutlines.com]
What is the Prognosis of Ependymoma, RELA Fusion Positive? (Outcomes/Resolutions) The prognosis of RELA Fusion-Positive Ependymoma may vary considerably from one individual to another and is dependent on a set of factors. [dovemed.com]
The prognosis of ependymomas depends on several aspects. [sciencedirect.com]
Prognosis The prognosis of children and teenagers with ependymoma mainly depends on the tumour site and, thus, the extent of surgical tumour removal. [gpoh.de]
Subtotal resection confers a very poor prognosis.[19,34,35]; [31][Level of evidence B4] Lower doses of radiation. [cancer.gov]
Etiology
(Etiology) The exact cause of development of Ependymoma, RELA Fusion Positive is not well-understood. Research scientists believe that the cause may involve a combination of several factors including genetic, environmental, and occupational factors. [dovemed.com]
Etiology To theorize the "cell of origin" of ependymomas and related tumors, one needs only to look back through the stages of normal ependymal cell development. [emedicine.medscape.com]
Epidemiology
[…] supratentorial ependymoma subtype in children (Nature 2014;506:451) Detection of RELA fusion gene with FISH is diagnostic Poor prognosis ICD coding ICD-10: C71.5 - malignant neoplasm of cerebral ventricle C71.9 - malignant neoplasm of brain, unspecified Epidemiology [pathologyoutlines.com]
Predictors of survival among pediatric and adult ependymoma cases: a study using Surveillance, Epidemiology, and End Results data from 1973 to 2007. [frontiersin.org]
References Villano JL, Parker CK, Dolecek TA: Descriptive epidemiology of ependymal tumours in the United States. Br J Cancer 108 (11): 2367-71, 2013. [cancer.gov]
Institute of Medical Biostatistics, Epidemiology and Informatics (IMBEI) at the University Medical Center of the Johannes Gutenberg University Mainz 2020 [URI: https://www.kinderkrebsregister.de/ typo3temp/ secure_downloads/ 42507/ 0/ 1c5976c2ab8af5b6b388149df7182582a4cd6a39 [gpoh.de]
References: Villano JL, Parker CK, Dolecek TA: Descriptive epidemiology of ependymal tumours in the United States. Br J Cancer 108 (11): 2367-71, 2013. [uofmhealth.org]
Pathophysiology
2014;506:451) Median age of 8 years (range: 0 - 69 years), with 23% in adults (Cancer Cell 2015;27:728) M > F (1.6:1) (Cancer Cell 2015;27:728) Sites Brain, supratentorial Has not been described in infratentorial compartments (Cancer Cell 2015;27:728) Pathophysiology [pathologyoutlines.com]
As noted in Pathophysiology, a number of genetic mutations have been associated with ependymomas. However, a causal relationship between these mutations and tumor progression has not yet been determined. [emedicine.medscape.com]
Prevention
How can Ependymoma, RELA Fusion Positive be Prevented? Presently, there are no specific methods or guidelines to prevent the formation of RELA Fusion-Positive Ependymoma type. [dovemed.com]
In the first, binding of the glucocorticoid receptor to NFκBp65 (RELA) prevents cooperative binding with the transcription factor IFR3. [sciencedirect.com]
However, an author would be permitted to write a sentence such as “NCI’s PDQ cancer information summary about breast cancer prevention states the risks succinctly: [include excerpt from the summary].” [cancer.gov]
However, an author would be permitted to write a sentence such as "NCI's PDQ cancer information summary about breast cancer prevention states the risks succinctly: [include excerpt from the summary]." [uofmhealth.org]