Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0027497 (nausea)
 23,468 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Background: Multiple intracranial meningiomas account for <10% of all meningiomas. Familial multiple meningiomas have been linked to germline mutations in two genes: neurofibromatosis type 2 (NF2) and SWIch/Sucrose Non-Fermentable (SWI/SNF)-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1). Sporadic multiple meningiomas have been associated with somatic NF2 mutations and, to date, there has been no case related to somatic SMARCB1 mutations. Here, we describe the first case. Case Report: A 45-year-old female suffered a head trauma while snowboarding. Subsequent to her injury, she experienced persistent headache, nausea, vomiting, dizziness, and flashing lights in the right eye. Magnetic resonance imaging (MRI) of her brain revealed multiple intracranial meningiomas. She underwent a two-staged craniotomy to remove frontal/parietal/temporal and occipital extra-axial tumors. Pathology confirmed the masses as meningiomas, WHO Grade I. Tumor genetic testing was positive for SMARCB1 mutation but blood genetic testing was negative for SMARCB1 mutation. Conclusion: In sporadic multiple meningiomas, somatic NF2 mutations are usually the suspected genetic alternations. Our case illustrates that somatic SMARCB1 mutation is another genetic risk factor for sporadic multiple meningiomas, albeit rare.
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PMID:Somatic SMARCB1 Mutation in Sporadic Multiple Meningiomas: Case Report. 3041 84

Epithelioid sarcoma is a malignant mesenchymal neoplasm with morphologic and immunophenotypic epithelioid differentiation, which rarely arises in solid organs. We report a case of primary epithelioid sarcoma in the adrenal gland of a 31-year-old female. The patient initially presented with nausea and rectal bleeding, and subsequent imaging studies revealed a 4.4 cm left adrenal gland mass and left retroperitoneal lymphadenopathy. Clinical and radiological studies did not reveal tumor elsewhere in the patient. Histologic features were those of epithelioid sarcoma, proximal type with cohesive clusters of epithelioid tumor cells harboring frequent mitoses, and areas of necrosis. Immunohistochemical stains showed strong, diffuse expression of epithelial markers (pancytokeratin), and CD34 and Fli-1. Partial and focal positive staining of CK7 was also noted. Nuclear expression of SMARCB1 (INI-1) protein was lost. ERG was negative in this case. We believe that this is the second-case report of a primary adrenal gland epithelioid sarcoma. Fli-1 positivity was seen in our case, and ERG was negative as shown in some recent publications regarding epithelioid sarcomas.
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PMID:Primary adrenal gland epithelioid sarcoma: A case report and literature review. 3108 89

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