Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0018681 (headache)
 56,091 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 16-year-old young male experienced persistent headache, and brain computed tomography and magnetic resonance imaging showed an abnormal mass with calcification in the right temporal lobe of the cerebrum. The tumor was located in the leptomeninges and cerebral cortex. In the leptomeninges, multiple calcified-fibrous nodules were noted. In this area spindle-shaped cells were arranged in a fascicular or storiform pattern. A few meningioma-like nodules were also present. With continuity of this leptomeningeal lesion, a diffuse infiltrative lesion composed of proliferating perivascular cells and hyalinized small vessels was also present in the cerebral cortex. The proliferating vessels were small and narrowed by proliferation of surrounding spindle-shaped cells. Immunohistochemically, the spindle-shaped cells had strong to moderate positivity for vimentin and CD34 and weak positivity for epithelial membrane antigen and S-100 protein. The maximum Ki67 labeling index was 0.3%. The spindle-shaped cells showed loss of heterozygosity on D17S929 and D17S282 microsatellite markers flanking the NF2 gene. These histopathologic and genetic findings are consistent with meningioangiomatosis, and meningioangiomatosis has been thought to be a neoplastic lesion of meningothelial cells. This is the first report of a genetic alteration in a case of meningioangiomatosis.
 ...
PMID:Meningioangiomatosis occurring in a young male without neurofibromatosis: with special reference to its histogenesis and loss of heterozygosity in the NF2 gene region. 1175 80

We report a case of a patient presenting with clinical, radiological and endoscopic features of colitis due to a compressive left para-aortic mass. Total open surgical excision was performed, which resulted in complete resolution of colitis. Histopathology and immunohistochemistry revealed benign retroperitoneal schwannoma. These neural sheath tumors rarely occur in the retroperitoneum. They are usually asymptomatic but as they enlarge they may compress adjacent structures, which leads to a wide spectrum of non-specific symptoms, including lumbar pain, headache, secondary hypertension, abdominal pain and renal colicky pain. CT and MR findings show characteristic features, but none are specific. Schwannoma can be isolated sporadic lesions, or associated with schwannomatosis or neurofibromatosis type II (NF2). Although they vary in biological and clinical behavior, their presence is, in nearly every case, due to alterations or absence of the NF2 gene, which is involved in the growth regulation of Schwann cells. Both conditions were excluded by thorough mutation analysis. Diagnosis is based on histopathological examination and immunohistochemistry. Total excision is therapeutic and has a good prognosis. Schwannomatosis and NF2 should be excluded through clinical diagnostic criteria. Genetic testing of NF2 is probably not justified in the presence of a solitary retroperitoneal schwannoma.
 ...
PMID:Benign retroperitoneal schwannoma presenting as colitis: a case report. 1790

The authors report a case of an isolated schwannoma of left hypoglossal nerve in a 9-year-old girl. To the authors' knowledge, this is the first case report of hypoglossal nerve schwannoma in the pediatric population in the absence of neurofibromatosis Type 2. The patient presented with a 2-month history of morning nausea and vomiting with occasional daytime headaches. Magnetic resonance imaging and subsequent CT scanning revealed a dumbbell tumor with a belly in the lower third of the posterior fossa and head underneath the left jugular foramen. Its neck protruded through an expanded hypoglossal canal. Although the lesion bore radiological characteristics of a hypoglossal schwannoma, the absence of hypoglossal palsy and the apparent lack of such tumors in the pediatric population the preoperative diagnosis was not certain. The tumor was approached via a midline suboccipital craniotomy, and gross-total resection was achieved. Pathological examination confirmed the diagnosis of schwannoma. Blood and tumor tests for mutations in the NF2 gene were negative. Postoperative mild hypoglossal palsy recovered by the 3-month follow-up, and an MRI study obtained at 1 year did not show recurrence.
 ...
PMID:Isolated hypoglossal schwannoma in a 9-year-old child. 2272 44

Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically. He had a family history of multiple schwannomas for his father and sister. Systemic examinations of these family members ruled out a diagnosis of NF1 or NF2, and thus schwannomatosis was suspected. Genetic analysis revealed a germline mutation (c. *82C > T) of SMARCB1, and a somatic mutation of NF2 without loss of heterozygosity at the chromosome 22 locus. This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country.
 ...
PMID:Familial schwannomatosis with a germline mutation of SMARCB1 in Japan. 2563 85

Meningiomas are primary CNS tumors that arise from the arachnoid layer of the meninges. Genomic sequencing has revealed that NF2 mutations are the most common genetic alteration seen in meningiomas. Meningiomas although usually low grade, can sometimes progress to high grade. A patient who had several recurrences of meningiomas since childhood presented with recurrent headaches. Imaging showed that he had another recurrence of a meningioma. He underwent surgery for resection of the meningioma and histopathology showed NF2 mutation. He was started on everolimus and bevacizumab with good effect. Studies have shown that NF-2 mutated meningiomas have a good response to everolimus and bevacizumab with increased progression-free survival time and progression-free survival time at 6 months.
 ...
PMID:Everolimus and Bevacizumab in the Management of Recurrent, Progressive Intracranial NF2 Mutated Meningioma. 3104 50