Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:1.3.5.1 (succinate dehydrogenase)
 8,177 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Carotid body tumors (CBTs) are a rare type of extra-adrenal paraganglioma, which originate from the carotid body. A 29-year-old woman was admitted to the Department of Head and Neck Surgery, Beijing Tongren Hospital (Capital Medical University, Beijing, China) with hoarseness of the throat, which had progressively worsened over seven months. The patient had a family history of CBTs. Computed tomography and ultrasound imaging revealed multiple well-enhanced masses located at the bilateral carotid bifurcation and in the left parapharyngeal space. Surgery and pathological examination confirmed that the patient had developed regional lymph node metastasis. Significantly enhanced multiple pulmonary and hepatic lesions indicated that the patient had also developed distal metastasis. A genetic analysis performed on the family members of the patient revealed that the family carried a mutated succinate dehydrogenase D gene. In the present study, a systemic review of the literature indicated that extra vigilance is required in familial forms of CBT, in order to increase the standard of treatment for CBT patients.
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PMID:Imaging findings of malignant bilateral carotid body tumors: A case report and review of the literature. 2707 98