Presentation
Several months later the patient presented with disseminated intrathecal disease and ultimately died 42 months after the initial resection. [ncbi.nlm.nih.gov]
Entire Body System
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Noncompliance
One patient received RT after the patient was taken off study for noncompliance; this patient ultimately experienced disease recurrence and died. Of the 11 patients who received conformal RT, two patients have experienced relapse. [doi.org]
[PUBMED Abstract] Million L, Anderson J, Breneman J, et al.: Influence of noncompliance with radiation therapy protocol guidelines and operative bed recurrences for children with rhabdomyosarcoma and microscopic residual disease: a report from the Children's [cancer.gov]
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Galactorrhea
She denied galactorrhea, but her menstruation had ceased 2 months earlier. There was no weakness or convulsion. She was on no medication, and had no significant past medical history and family history was unremarkable. [ncbi.nlm.nih.gov]
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Euthyroid
She has been on regular follow-up visits at the outpatient clinic for the last 3 years with no clinical or radiological evidence of recurrence after which a good recovery was noted, with a eucortisolemic and euthyroid state on hormonal replacement therapy [ncbi.nlm.nih.gov]
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Axillary Mass
Ellison, Camelia Stefanovici and Sherry Krawitz, Intracranial Atypical Teratoid/Rhabdoid Tumor Presenting as an Axillary Mass: A Case Report and Review of Literature, Pediatric and Developmental Pathology, 17, 2, (122), (2014). [doi.org]
Gastrointestinal
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Recurrent Vomiting
The most common presenting symptom was recurrent vomiting with a mean duration of 6 weeks. Nine cases (60%) were infratentorial and cerebrospinal fluid was positive in 2 cases (13.3%) at time of diagnosis. [ncbi.nlm.nih.gov]
Eyes
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Transient Blindness
Constantini, S, Umansky, F, Nesher, R, Shalit, M 1987 Transient blindness following intracranial pressure changes in a hydrocephalic child with a V-P shunt Childs Nerv Syst 3 379 381 Google Scholar 14. [doi.org]
Urogenital
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Urinary Dribbling
A 30-month-old African American boy with multiple comorbidities presented with the inability to ambulate, encopresis and urinary dribbling. The MRI showed an intradural extramedullary mass extending downwards from the L3-4 level. [ncbi.nlm.nih.gov]
Neurologic
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Rabies
Atypical Teratoid/Rhabdoid Tumor of the Sellar Region in an Adult With Long Survival: Case Report and Review of the Literature Mussa Hussain Almalki, Ashjan Alrogi, Abdulkarim Al-Rabie, Sadeq Al-Dandan, Abdullah Altwairgi, Yasser Orz Abstract Atypical [dx.doi.org]
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Stroke
Phanthumchinda, K, Intragumtornchai, T, Kasantikul, V 1991 Stroke-like syndrome, mineralizing microangiopathy, and neuroaxonal dystrophy following intrathecal methotrexate therapy Neurology 41 1847 1848 Google Scholar 12. [doi.org]
Workup
A metastatic workup was negative for disseminated disease. A transoral biopsy procedure revealed an atypical teratoid/rhabdoid tumor on histological examination. [ncbi.nlm.nih.gov]
[…] gene (the hSNF5/INI1 gene), which maps to the 22q11.2 locus and is a sensitive and specific marker.[ 1 7 22 37 40 ] Immunohistochemical study using antibody against the INI1 gene product or FISH to identify loss of the INI1 locus is the current routine workup [surgicalneurologyint.com]
[…] protein leading to a cytoplasmic localization of the protein or a missense mutation leading on to a nonfunctional expression of the protein in the nucleus (retained nuclear staining). [22], [23] This mutation may have to be confirmed by a cytogenetic workup [ccij-online.org]
Serum
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Hyponatremia
The most frequently reported significant toxicities included bone marrow suppression; febrile neutropenia; infection; GI (anorexia, mucositis, nausea, vomiting, abdominal pain); electrolyte and hepatic disturbances (hypokalemia, hyponatremia, hypomagnesemia [doi.org]
Other ECG Findings
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Ischemic Changes
Oshman, DG 1991 Hemiparesis and ischemic changes of the white matter after intrathecal therapy for children with acute lymphocytic leukemia Cancer 67 2058 2061 Google Scholar 11. [doi.org]
Treatment
Among the combination therapy regimens, concurrent palbociclib and radiation treatment and palbociclib treatment following radiation consistently outperformed the sequence in which radiation followed palbociclib treatment. [ncbi.nlm.nih.gov]
Prognosis
Maximal surgical resection, intrathecal chemotherapy, and consolidative autologous PBSCT may improve prognosis and avoid radiation. [ncbi.nlm.nih.gov]
Etiology
These findings lend support to the hypothesis that rhabdoid tumors in all sites have a common genetic etiology. [ncbi.nlm.nih.gov]
These findings are in favor of a common etiology for rhabdoid tumor and a subset of brain tumors developing in infancy. [doi.org]
Epidemiology
Although radiotherapy (RT) historically has been delayed in patients aged METHODS: The National Cancer Institute's Surveillance, Epidemiology, and End Results database was used to identify 144 patients with ATRT from 1973 to 2008. [ncbi.nlm.nih.gov]
Abbreviations: Cum, cumulative; ATRT, atypical teratoid rhabdoid tumor; SEER, Surveillance, Epidemiology, and End Results database. [dovepress.com]
Keywords: Pediatric, intracranial, atypical teratoid/rhabdoid tumors, surgery, chemotherapy and radiotherapy Abstract: Aims and Objectives: To review the clinical features and current understanding of the epidemiology, biology and management of pediatric [oalib.com]
SMARCA4 genes is required for the diagnosis of atypical teratoid / rhabdoid tumor (ATRT) Tumors with similar morphology but lacking this mutation are classified as CNS embryonal tumor with rhabdoid features ICD coding C71 : malignant neoplasm of brain Epidemiology [pathologyoutlines.com]
Epidemiology [ edit ] Estimated 2-3% of primary CNS tumors in Majority of patients present at age A workshop on ATRT ( PMID 12142780 ) reported that pathologic review of a recent CCG study suggests ATRT may represent a significant proportion of brain [en.wikibooks.org]
Pathophysiology
Our results suggest that TEAD4 plays a role in the pathophysiology of AT/RT, which represents a new insight into the biology of this aggressive tumor. [scholars.northwestern.edu]
Current paper discusses current views on molecular pathophysiology of the tumor. 2010 The Author(s). European Journal of Neurology 2010 EFNS. [ncbi.nlm.nih.gov]
Smith, Shwetal Mehta, Emad Youssef, Jenny Eschbacher, Kathy Tucker, Laughlin Dawes, Neil Lambie, Elizabeth Algar and Elizabeth Hovey, Atypical Teratoid Rhabdoid Tumor: Two Case Reports and an Analysis of Adult Cases with Implications for Pathophysiology [doi.org]
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Prevention
This case report highlights that independent prognostic factors are urgently needed for optimizing treatment stratification and preventing overtreatment. [ncbi.nlm.nih.gov]