Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0042963 (vomiting)
 31,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Atypical teratoid/rhabdoid tumors (AT/RT) of the central nervous system are rare and extremely aggressive malignancies of early childhood. We report a case of AT/RT in an adult patient. A 30-year-old woman presented with headache, vomiting and ataxia during the second trimester of pregnancy. Magnetic resonance imaging revealed a posterior fossa mass. A gross total resection was performed. Pathological examination revealed an AT/RT. Despite the dismal prognosis the patient decided not to undergo an abortion. For this reason postoperative accelerated hyperfractionated radiotherapy was limited to the tumor region. Six months later the woman delivered a healthy baby. One week postpartum, a central nervous system recurrence localized apart from the primary lesion was treated with radiosurgery. Two months later a diffuse progression was noted. Despite a 6 week course of oral temozolomide, the tumor progressed and the patient died 11 months after diagnosis. Although survival was short, surgery and involved field radiotherapy yielded a progression-free interval of 9 months. This allowed the patient to carry pregnancy to term. Radiosurgery resulted in a complete remission of the first recurrence. Oral chemotherapy was not effective in controlling diffuse tumor spread.
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PMID:Atypical teratoid/rhabdoid tumors in adult patients: case report and review of the literature. 1145 Dec 2

A six-month old girl presented with repetitive episodes of vomiting. Soon after admission to hospital she had convulsions. Computertomography showed a tumour in the third ventricle. She was non-radically operated. Histology showed an atypical teratoid/rhabdoid tumour (AT/RT). No active treatment was initiated, and the patient died three months later. AT/RT is a very rare tumor of the brain. It occurs primarily in early childhood. AT/RT is a very aggressive and rapidly progressing tumour.
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PMID:[Rare brain tumour in 6-month-old girl]. 1920 37

The authors present the case of a rare extraventricular, intraparenchymal choroid plexus carcinoma (CPC). This 6-year-old girl presented to the emergency department with a 1-week history of headaches, nausea, and vomiting. Imaging studies revealed an intraaxial cystic and solid mass located in the right frontal lobe with central nodular enhancement and minimally enhancing cyst walls. Gross-total resection was accomplished via craniotomy without complications. The initial pathological diagnosis was atypical teratoid/rhabdoid tumor (AT/RT); however, immunostaining for INI1 protein (using the BAF47/SNF5 antibody) showed retention of nuclear staining in the tumor cells, resulting in a change in the diagnosis to CPC. There was no evidence of recurrence at the last follow-up 2.5 years after treatment, which supports the diagnosis of CPC over AT/RT. This case emphasizes the importance of immunostaining for INI1 protein for distinguishing CPC from AT/RT in cases with atypical or indeterminate features.
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PMID:Rare intraparenchymal choroid plexus carcinoma resembling atypical teratoid/rhabdoid tumor diagnosed by immunostaining for INI1 protein. 1979 69

Atypical teratoid/rhabdoid tumor (AT/RT) is an aggressive embryonic brain tumor that is predominantly found in young children. The present study reports the unusual case of an adult male AT/RT patient with a history of another type of tumor, hereditary multiple exostoses (EXT or HME), who survived for 18 years. The patient's first and chief complaint was a 1-month history of progressive projectile vomiting. The patient was admitted twice for treatment, and on the second admission, a craniotomy was performed to remove a intracranial mass. However, no radiotherapy or chemotherapy treatment was administered. Pathology revealed monotonous medium- to large-sized neoplastic cells. The patient succumbed to a pulmonary infection and respiratory failure 14 days after the initial treatment. The prognosis for AT/RT is extremely poor; furthermore, the patient presented with another tumor. There may have been an association between the two tumors that worsened the clinical phenotype and prognosis of this patient. Additionally, symptomatic treatment for this condition is insufficient; early surgery and radiotherapy may be more useful for preventing the aggressive progression of these tumors.
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PMID:Atypical teratoid/rhabdoid tumor with hereditary multiple exostoses in an 18-year-old male: A case report. 2662 9

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly malignant tumor of the central nervous system (CNS) that typically occurs during infancy. These tumors exhibit morphologic heterogeneity and differentiate along multiple lineages, thus posing a diagnostic challenge. Here, we present two cases of AT/RT with a primitive neuroectodermal component and histological pattern resembling an embryonal tumor with multilayered rosettes (ETMR), a rare but distinctive embryonal entity with different therapeutic implications. Patient 1, a 23-month-old girl, presented with a history of gait unsteadiness and headache; cranial computed tomography (CT) identified a mass in the pineal and third ventricular regions. Patient 2, a 26-month-old girl, presented with headache and vomiting; CT revealed a mass in the posterior third ventricle. Both patients were treated via gross total tumor resection. Although histologically, AT/RT cases variably comprise primitive neuroectodermal, mesenchymal, and classic rhabdoid cells, the most striking feature of both cases was the presence of multilayered rosettes with a few Homer Wright rosettes and occasional primitive neuroepithelial tubes in focal primitive component areas. Immunohistochemistry revealed considerable heterogeneity within the tumors. We further present our findings in the context of the relevant literature.
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PMID:Atypical teratoid/rhabdoid tumors with multilayered rosettes in the pineal region. 2730 51

Desmoplastic myxoid tumor (DMT), SMARCB1 mutant is a recently proposed new entity that mainly occurs in the pineal region and has epigenetic features similar to those of atypical teratoid/rhabdoid tumors (AT/RT)-MYC and poorly differentiated chordomas. Herein, we present a new case of a 33-year-old man with headaches, dizziness, nausea, vomiting, and blurred vision, who was initially found to have a suspicious germinoma on imaging. After surgical removal of the lesion, the postoperative pathological diagnosis was DMT, SMARCB1 mutant. To the best of our knowledge, this is the first case reported in China. Our findings also extend the range of the immunohistochemical phenotype of this rare tumor.
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PMID:A case of desmoplastic myxoid tumor, SMARCB1 mutant, in the pineal region. 3290 46