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)

It is well known that Down's syndrome is sometimes associated with leukemia. However, there have been only a few case reports of a relationship between Down's syndrome and brain tumors. We report 2 cases with histological diagnoses of germinoma. The 1st case was a 10-year-old boy with Down's syndrome complaining of seizure and left hemiparesis. Computed tomographic (CT) scan and magnetic resonance imaging (MRI) showed a mass lesion in the right basal ganglia and thalamus. Histological examination indicated two cell pattern germinomas. The 2nd case was a 20-year-old man with Down's syndrome complaining of headache and vomiting. CT scan and MRI showed a pineal region tumor with marked hydrocephalus. Surgical specimens showed typical germinoma. Only 13 cases of brain tumors associated with Down's syndrome have been reported. A higher incidence of germ cell tumors seems to be related to chromosomal abnormalities.
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PMID:Intracranial germinoma associated with Down's syndrome. Report of 2 cases. 987 49

In 1980, a 10-year-old boy was admitted to the authors' hospital with consciousness disturbance and vomiting. Computerized tomography (CT) scans revealed a pineal mass lesion and hydrocephalus. The tumor was totally removed and a ventriculoperitoneal (VP) shunt was inserted. Histological investigation of a surgical specimen revealed that it was a teratoma. Five years later, the patient was readmitted to the same institution with polyuria. Magnetic resonance (MR) imaging revealed a mass lesion in the suprasellar region. The patient received systemic chemotherapy, and the tumor disappeared; however, 2 years after the chemotherapy, MR imaging demonstrated a right lateral ventricular mass. The tumor was totally resected, and histopathological investigation revealed a teratocarcinoma. Three years after the chemotherapy, CT scanning revealed suprasellar and right lateral ventricular tumor recurrences, for which the patient received irradiation and chemotherapy. The tumors disappeared and the patient achieved complete remission that lasted longer than 10 years. On January 25, 2000, however, he noticed hip pain. Lumbar MR imaging demonstrated a spinal tumor below L-4 and also an abdominal tumor. The abdominal tumor was totally removed, and the histological findings identified it as a germinoma. The patient received systemic chemotherapy and the tumor disappeared completely. The authors believe that the suprasellar tumor was a metachronous germinoma and that it had metastasized through the intrathecal route and the VP shunt.
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PMID:Intrathecal and intraperitoneal germinomas occurring 20 years after total removal of a pineal teratoma. Case report. 1183 13

We described the major diagnostic difficulties encountered in the case of a 25-year-old man with the pathological diagnosis of a germinoma. The patient initially developed an eating disorder at the end of 2003 and a character change ensued since the beginning of 2004. On admission in August 2004, his cardinal symptoms and signs included marked apathy, depersonalization, generalized muscle wasting, and decreased tendon reflexes. Brain T2-weighted (T2-WI) MR and FLAIR images showed high signal intensities in the suprasellar region and at the genu of the corpus callosum that extended along the sub-pia mater of the right anterior horn. These lesions showed mild enhancement on gadolinium-enhanced T1-WI. CSF examination revealed a mildly elevated level of protein and increased cell counts but did not show any malignant cells on repeated spinal tap. The patient's status remained practically unchanged till December 2004 when he developed diabetes insipidus. Soon afterward, the patient collapsed into akinetic mutism and developed corresponding new lesions at the tegmentum of the midbrain. These new lesions disappeared spontaneously and akinetic mutism regressed without any specific therapy. We tentatively diagnosed of neurosarcoidosis based on a characteristic progressive-regressive clinical course, CSF data, and radiological findings. Clinical symptoms and the enhanced masses on MRI were highly responsive to steroid therapy after which the patient was able to return home. However, disturbances in consciousness and tenacious vomiting recurred in September. Brain MRI revealed a markedly re-enlarged and easily enhanced mass at the right anterior horn, which extended into the cerebral aqueduct and resulted in obstructive hydrocephalus. On surgery, histopathological investigation revealed germinoma. This case highlights the need for careful discrimination between a slow growing germinoma and chronic granulomatous diseases of the brain such as neurosarcoidosis. Early histological investigation may be warranted in patients who present difficulties during differential diagnoses.
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PMID:[Germinoma presenting with personality and socio-behavioral abnormalities may challenge differential diagnoses]. 1871 99

An 11-year-old boy presented with a 4-month history of progressive holocranial headache, intermittent vomiting and visual blurring. Later, he began walking unsteadily, with progressive bilateral visual and hearing loss. He had had two episodes of abnormal tonic posturing the day prior to admission. On examination, the patient was drowsy and did not respond to commands. Imaging showed an enhancing midbrain mass with an exophytic component with hydrocephalus. Emergency ventriculoperitoneal shunt was performed, following which there was neurological improvement. Later he underwent a midline suboccipital craniectomy with vermian splitting and decompression of the exophytic component of the tumor from the midbrain. Biopsy of the tumor revealed a germinoma. Post-operatively, the patient received chemotherapy followed by radiotherapy. Primary midbrain germinoma is an extremely rare entity and to the best of our knowledge only two cases to date have been reported in the literature.
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PMID:Primary midbrain germinoma. 1878 53

A 23 year-old patient was referred to the endocrine outpatient clinic with the suspicion of diabetes insipidus as he complained of nycturia and polydipsia since 2-3 months. Further he presented with nausea, vomiting, loss of appetite, rapid weight loss, diffuse body pain and fatigue. No headache, blurred vision, or fever were reported. The clinical examination showed sexual infantilism (poor beard, pubic and axillary hair growth, small testis). The patient's skin was strikingly pale as well as dry and scaly. Lymph node palpation was unremarkable. Endocrine evaluation revealed diabetes insipidus as well as complete anterior pituitary insufficiency. MR imaging demonstrated contrast-enhancing mass lesions at the pineal gland, hypothalamus, and anterior horn of lateral ventricles bilaterally. The localization pattern deemed to be highly suspicious for intracranial germinoma. As beta-HCG and AFP were negative in serum and cerebrospinal fluid the diagnosis of germinoma was confirmed histologically. After radiotherapy with cranio-spinal radiation therapy with 24 Gy followed by two weeks of local tumor boost with 16 Gy, the posttherapy MRI scan indicated complete tumor removal. This case demonstrates a very rare and potentially curable tumor as the cause of panhypopituitarism in adults.
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PMID:Intracranial germinoma as a very rare cause of panhypopituitarism in a 23-year old man. 1905 25

Germ cell tumors, which constitute approximately 3-5% of tumors of the central nervous system (CNS), can be subdivided into germinomas, embryonal carcinomas, yolk sac tumors, choriocarcinomas, teratomas and mixed germ cell tumors. The diagnosis of intracranial germ cell tumor is based on the clinical symptoms, detection of tumor markers, such as alpha fetoprotein (AFP) and the beta subunit of human chorionic gonadotropin (beta-hCG) in blood and cerebrospinal fluid (CSF), magnetic resonance imaging (MRI) of the brain and spinal cord, CSF cytology and histology. The diagnosis of a secreting germ cell tumor, i.e. a non-germinoma, can be made by the determination of AFP and hCG as tumor markers. Germinomas are radiosensitive but are equally as sensitive to chemotherapy. Teratomas of the CNS are mostly diagnosed in newborns and infants. The most decisive role in the treatment of teratomas is played by as complete a resection as possible. Chemotherapy and irradiation play a subordinate role.Embryonal tumors, which constitute approximately 15-20% of CNS tumors, include medulloblastomas, primitive neuroectodermal tumors (PNET) of the CNS and the atypical teratoid rhabdoid tumor of the CNS. Medulloblastoma is the most common malignant brain tumor in childhood and adolescence. The incidence peak is the fifth year of life with a male predisposition in a ratio of 1.5:1. Medulloblastomas constitute 12-25% of all pediatric CNS tumors and 30-40% of pediatric tumors of the posterior cranial fossa. At the time of diagnosis evidence of dissemination in the CSF cavity is found in approximately 40% of patients. The extreme cell density makes medulloblastomas hyperdense in computed tomography (CT) and can therefore be differentiated from hypodense astrocytomas. The PNETs are histologically related to medulloblastomas, pineoblastomas, atypical teratoid rhabdoid tumors and peripheral neuroblastomas. They are relatively rare in children constituting less than 5% of supratentorial neoplasms. Patients are mostly clinically conspicuous due to macrocephalus and signs of brain pressure and/or seizures. In native CT the solid components of PNETs show a hyperdensity compared to the surrounding brain parenchyma probably due to the high cell density. Cysts and calcification are often detectable. The survival rate of children with CNS tumors has continuously increased in recent years. When corresponding clinical symptoms appear, such as headache, nausea or vomiting when fasting, all of which are evidence of increased intracranial pressure, MRI should be carried out as quickly as possible. Children should be treated in centers with departments of pediatric oncology and hematology and within the framework of studies.
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PMID:[Germ cell and embryonal tumors]. 2511 69

The aim of this study was to describe early and late toxicity, survival and local control in 45 patients with primary brain tumors treated with helical tomotherapy craniospinal irradiation (HT-CSI). From 2006 to 2014, 45 patients with central nervous system malignancies were treated with HT-CSI. The most common tumors were medulloblastoma in 20 patients, ependymoma in 10 patients, intracranial germinoma (ICG) in 7 patients, and primitive neuroectodermal tumor in 4 patients. Hematological toxicity during treatment included leukopenia Grades 1-4 (6.7%, 33.3%, 37.8% and 17.8%, respectively), anemia Grades 1-4 (44.4%, 22.2%, 22.2% and 0%, respectively) and thrombocytopenia Grades 1-4 (51.1%, 15.6%, 15.6% and 6.7%, respectively). The most common acute toxicities were nausea, vomiting, fatigue, loss of appetite, alopecia and neurotoxicity. No Grade 3 or higher late toxicity occurred. The overall 3- and 5-year survival rates were 80% and 70%, respectively. Survival for the main tumor entities included 3- and 5-year survival rates of 80% and 70%, respectively, for patients with medulloblastoma, 70% for both in patients with ependymoma, and 100% for both in patients with ICG. Relapse occurred in 11 patients (24.4%): 10 with local and 1 with multifocal relapse. One patient experienced a secondary cancer. M-status and the results of the re-evaluation at the end of treatment were significantly related to survival. Survival after HT-CSI was in line with the existing literature, and acute treatment-induced toxicity resolved quickly. Compared with conventional radiotherapy, HT offers benefits such as avoiding gaps and junctions, sparing organs, and better and more homogeneous dose distribution and coverage of the target volume.
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PMID:Craniospinal irradiation using helical tomotherapy for central nervous system tumors. 2809 96

Germinomas are highly immunogenic tumors eliciting a strong peri-tumoral immune response that can spillover into the surrounding healthy tissues. This phenomenon can also occur in intracranial germinomas, manifesting as secondary hypophysitis. Herein, we report a case of 12-year-old-girl presenting with polyuria and polydispsia. She had central diabetes insipidus (CDI) and panhypopituitarism. Imaging revealed a sellar-suprasellar mass with infundibular stalk thickening. Transphenoidal biopsy revealed epithelioid granulomas with immunostaining negative for germinomatous cells. Other causes of hypophysitis were ruled out. Accordingly, she was diagnosed as primary granulomatous hypophysitis and treated with high-dose corticosteroids. Three years later she again presented with headache, vomiting and diminution of vision. Imaging showed a heterogeneous, solid-cystic peripheral rim-enhancing lesion at the same location with involvement of hypothalamus, ependyma and pineal gland. Cerebrospinal fluid beta-human chorionic gonadotropin was markedly elevated, confirming the diagnosis of an intracranial germ cell tumor. She was started on chemotherapy; however, she succumbed to febrile neutropenia. We performed a literature search and found 18 anecdotal cases of secondary hypophysitis associated with intracranial germinomas. There was a slight male preponderance (male:female 5:4). Two-thirds of the cases were below 18 years of age. Polyuria was the most common presenting manifestation (83%). CDI and panhypopituitarism were seen in 89 and 78% cases, respectively. Imaging evidence of pituitary stalk thickening was seen in 12 cases (67%), while pituitary enlargement and/or sellar mass were reported in 11 cases (61%). Pineal involvement was extremely rare, being reported in only 1 case, implying the predilection of suprasellar (rather than pineal) germinomas in causing secondary hypophysitis. Histologically, 82% had lymphocytic hypophysitis, while 18% had granulomatous hypophysitis. Initially, the diagnosis of germinoma was missed in 60% of the cases who were wrongly treated with corticosteroids. To conclude, physicians should make it a dictum that all children and adolescents presenting with CDI and pituitary stalk thickening should be rigorously screened for an underlying intracranial germinoma before labeling them as primary hypophysitis.
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PMID:Intracranial Germinoma Masquerading as Secondary Granulomatous Hypophysitis: A Case Report and Review of Literature. 3126 1

A 17-year-old male patient presented to the clinic with a headache, nausea, and vomiting. Magnetic resonance imaging demonstrated a fat-containing and -enhancing heterogeneous tumor in the third ventricle, and fat droplets within the ventricles and the subarachnoid space. Obstructive hydrocephalus was also present. Emergency subtotal removal of the mass was performed via interhemispheric transcallosal approach. The histopathological diagnosis was a mixed germ cell tumor that was composed of embryonal carcinoma, yolk-sac tumor, germinoma, and immature teratoma containing a large amount of mature elements. The patient was referred for postoperative chemoradiotherapy. A mixed germ cell tumor is a rare type of nongerminomatous germ cell tumor that is made up of at least two different types of germ cell tumors. These may include germinoma, choriocarcinoma, embryonal carcinoma, yolk sac tumor, mature teratoma, immature teratoma, or teratoma with malignant degeneration. As far as we know, this is the first reported case of a primary third ventricle mixed germ cell tumor with leptomeningeal dissemination of the immature teratoma component that contains grossly visible mature elements at admission.
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PMID:A primary third ventricle mixed germ cell tumor with leptomeningeal dissemination of immature teratoma component. 3141 81

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


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