Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.7.12.2 (MEK)
 18,161 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cardio-facio-cutaneous syndrome (CFCS) is a rare genetic disorder characterized by craniofacial deformities and heterogeneous cardiac and cutaneous manifestations. The condition is caused by de novo activating mutations in one of four genes encoding proteins involved in the RAS-MAPK signaling pathway; specifically BRAF, MEK1, MEK2, or KRAS. Variable malignancies have been reported in patients with CFCS. Herein we report a chondroblastoma-like lesion of the skull in a 20-year-old man with a clinical diagnosis of CFCS and a long-standing history of medically intractable epilepsy. Patients with CFCS have previously been noted to have poorly-defined giant cell lesions and this may be one such example.
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PMID:Chondroblastoma-like tumor of the skull in a patient with cardio-facio-cutaneous syndrome. 3010 Mar 56

Cardiofaciocutaneous syndrome (CFCS) is a rare developmental disorder that is phenotypically similar to Noonan syndrome and is associated with mutations in BRAF, MEK1, MEK2, and KRAS. The relationship between malignancy risk and CFCS is unclear with few cases published in the literature. The purpose of this paper is to describe the case of a patient with CFCS presenting in extremis as a result of a large intracerebral hemorrhage arising from a temporal bone mass with histopathology most consistent with chondroblastoma and secondary aneurysmal bone cyst. This is the first case to document an association between CFCS and chondroblastoma.
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PMID:Chondroblastoma-like mass of the temporal bone, secondary aneurysmal bone cyst, and intracerebral hemorrhage in a patient with cardiofaciocutaneous syndrome: case report. 3112 63