Carney-Stratakis syndrome

Carney-Stratakis syndrome
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Synonyms	N/A
Pronounce	N/A
Specialty	N/A
Symptoms	Gastrointestinal stromal tumors, Paragangliomas
Complications	N/A
Onset
Duration
Types	N/A
Causes	Genetic mutation
Risks
Diagnosis	Genetic testing, Imaging studies
Differential diagnosis	N/A
Prevention	N/A
Treatment	Surgery, Targeted therapy
Medication	N/A
Prognosis
Frequency	Rare
Deaths	N/A

Carney-Stratakis syndrome is a rare genetic disorder characterized by the presence of both gastrointestinal stromal tumors (GISTs) and paragangliomas. It is distinct from Carney triad, which also includes pulmonary chondromas. Carney-Stratakis syndrome is inherited in an autosomal dominant pattern and is associated with mutations in the succinate dehydrogenase (SDH) complex genes.

Clinical Features

Patients with Carney-Stratakis syndrome typically present with symptoms related to the presence of GISTs and paragangliomas.

Gastrointestinal Stromal Tumors (GISTs)

GISTs are the most common mesenchymal tumors of the gastrointestinal tract. In Carney-Stratakis syndrome, these tumors often occur in the stomach or small intestine. Symptoms may include abdominal pain, gastrointestinal bleeding, or obstruction.

Paragangliomas

Paragangliomas are rare neuroendocrine tumors that can develop in various parts of the body, including the head, neck, and abdomen. They may secrete catecholamines, leading to symptoms such as hypertension, palpitations, and headaches.

Genetics

Carney-Stratakis syndrome is associated with germline mutations in the SDH complex genes, particularly SDHB, SDHC, and SDHD. These genes are involved in the mitochondrial respiratory chain, and their mutation leads to a disruption in cellular energy metabolism and increased risk of tumorigenesis.

Diagnosis

Diagnosis of Carney-Stratakis syndrome involves a combination of clinical evaluation, imaging studies, and genetic testing. Imaging studies such as CT scan or MRI can help identify the presence of tumors. Genetic testing can confirm mutations in the SDH genes.

Management

The management of Carney-Stratakis syndrome involves surgical resection of tumors when feasible. In cases where surgery is not possible, targeted therapies such as tyrosine kinase inhibitors may be used. Regular follow-up and monitoring are essential due to the risk of recurrence and development of new tumors.

Prognosis

The prognosis for individuals with Carney-Stratakis syndrome varies depending on the size, location, and number of tumors, as well as the presence of metastasis. Early detection and management are crucial for improving outcomes.

Also see

• Carney triad
• Gastrointestinal stromal tumor
• Paraganglioma
• Succinate dehydrogenase