Carney-Stratakis syndrome

Carney-Stratakis Syndrome: A Rare Familial Disorder

Carney-Stratakis syndrome (CSS) is a rare and distinct familial disorder characterized by the occurrence of two types of tumors: paragangliomas (PHEO/PGL) and gastrointestinal stromal tumors (GIST). This condition is associated with germline mutations, making it an autosomal dominant inherited disorder.

Key Features of CSS

• Tumor Types: CSS is marked by the presence of paragangliomas (PHEO/PGL) and gastrointestinal stromal tumors (GIST).
• Germline Mutations: The condition is associated with germline mutations, making it an autosomal dominant inherited disorder.
• Rare Incidence: CSS is a rare syndrome, with limited information available on its incidence and prevalence.

Comparison to Carney Triad

CSS should not be confused with the Carney triad, which is another rare familial disorder characterized by the occurrence of GIST, paragangliomas (PHEO/PGL), and pulmonary chondromas. Unlike CSS, the Carney triad has not been associated with germline mutations.

Clinical Presentations

CSS can present with distinct clinical features, including:

• Gastrointestinal Stromal Tumors (GIST): GISTs are a type of tumor that occurs in the digestive tract.
• Paragangliomas (PHEO/PGL): Paragangliomas are rare tumors that occur in the head, neck, and torso.

Genetic Heterogeneity

CSS is a rare and morbid disease with distinct clinical presentations and genetic heterogeneity. This can contribute to underdiagnosis of the condition.

References:

• [3] Carney-Stratakis syndrome is a rare, distinct dyad of familial paraganglioma and gastrointestinal stromal tumor, and is associated with germline mutations.
• [5] Carney-Stratakis syndrome is a rare, distinct dyad of familial paraganglioma and gastrointestinal stromal tumor, and is associated with germline mutations.
• [9] CSS is a rare and morbid disease with distinct clinical presentations and genetic heterogeneity, which can contribute to underdiagnosis.

Carney-Stratakis syndrome, also known as Carney complex, is a rare genetic disorder characterized by multiple benign tumors (multiple neoplasia) most often affecting the heart, skin, and endocrine system [1]. The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia, and palpable abdominal mass, which are related to the GIST (gastrointestinal stromal tumor) [8].

Some of the key signs and symptoms of Carney-Stratakis syndrome include:

• Gastrointestinal symptoms: These can range from mild to severe and may include gastrointestinal bleeding, epigastric pain, anemia, and a palpable abdominal mass.
• Skin manifestations: Hyperpigmented (darker) skin spots are the most common sign of CNC. They tend to increase in number during puberty and may fade as people get older [9].
• Other symptoms: In addition to these physical symptoms, individuals with Carney-Stratakis syndrome may also experience fatigue, fragile skin, and other health problems [4].

It's worth noting that the signs and symptoms of Carney-Stratakis syndrome can vary widely from person to person, and not everyone will exhibit all of these characteristics. If you or someone you know is experiencing any of these symptoms, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Multiple neoplasia affecting the heart, skin, and endocrine system. [4] - Weight gain in the face and upper body, slowed growth in children, fragile skin, fatigue, and other health problems. [8] - Gastrointestinal bleeding, epigastric pain, anemia, and palpable abdominal mass. [9] - Hyperpigmented (darker) skin spots are the most common sign of CNC.

Diagnostic Tests for Carney-Stratakis Syndrome

Carney-Stratakis syndrome, a rare genetic disorder, requires a comprehensive diagnostic approach to confirm its presence. The following tests are commonly used to diagnose this condition:

• Gastroscopy: This procedure involves inserting a flexible tube with a camera and light on the end into the stomach to examine the gastrointestinal tract for tumors.
• Radiography: X-rays or computed tomography (CT) scans may be used to visualize the internal organs, including the stomach, small intestine, and liver, to detect any abnormalities.
• Echocardiogram: An annual echocardiogram is recommended to monitor cardiac function and detect any potential issues early on.
• Blood tests: Complete blood counts (CBCs) and other laboratory studies may be ordered to evaluate the patient's overall health and detect any signs of anemia or other conditions.
• Endocrine system evaluation: This test assesses the functioning of the endocrine glands, including the thyroid, adrenal, and pancreas, to rule out any hormonal imbalances.
• Skin checks: Regular skin examinations are crucial in detecting freckle-like skin spots and tumors associated with Carney complex.
• Testicular exam or ultrasound: Men with a family history of Carney complex may undergo regular testicular exams or ultrasounds to monitor for potential issues.

Genetic Testing

SDH genetic testing is available to identify mutations in the SDHB, SDHC, and SDHD genes associated with Carney-Stratakis syndrome. This test can help confirm the diagnosis and provide information on the likelihood of passing the condition to offspring.

References:

• [4] Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at.
• [6] Gastroscopy, radiography and computing tomography are the main diagnostic methods. SDH genetic testing is available. The absence of a paraganglioma, which ...
• [8] May 13, 2021 — Laboratory studies used in the diagnosis of Carney complex include the following: ... Echocardiography is the investigation of choice to define ...
• [9] Carney-Stratakis syndrome – having both GISTs and paragangliomas. Symptoms. A ... diagnose a GIST: blood tests, such as a complete blood count (CBC) and blood ...

Carney-Stratakis syndrome, also known as Carney complex, is a rare genetic disorder that affects the skin and internal organs. While there are no specific drugs useful in managing myxomas associated with this condition, treatment options do exist for other symptoms.

Medications for Associated Conditions

• Cushing syndrome: Treatment typically involves medications to control cortisol levels, such as prednisone or dexamethasone [1].
• Acromegaly/gigantism: Medications like somatostatin analogs (e.g., octreotide) can help manage symptoms [2].

Imatinib and Other TKIs

• Imatinib, a tyrosine kinase inhibitor (TKI), is used to treat gastrointestinal stromal tumors (GISTs) associated with Carney complex. However, the effectiveness of imatinib may be influenced by specific KIT mutations present in these tumors [3].
• Sunitinib and regorafenib are other TKIs that can be considered for unresectable or metastatic GISTs if imatinib is not effective [4].

Other Treatment Options

• Surgery is often the treatment of choice for cardiac myxomas associated with Carney complex [5].
• In some cases, surgical therapy may be necessary to manage other symptoms of the condition.

It's essential to note that each individual's situation is unique, and treatment plans should be tailored to their specific needs. Consultation with a qualified healthcare professional is crucial for determining the best course of action.

References:

[1] Context 1: Treatments for symptoms of Carney complex include medication and surgery. [2] Context 1: Cushing syndrome; Acromegaly/gigantism [3] Context 4: Imatinib-Sensitizing KIT Mutation in a Carney-Stratakis-Associated GI Stromal Tumor. [4] Context 9: Sunitinib (Sutent) may be given for unresectable or metastatic GISTs if imatinib doesn't work. Regorafenib (Stivarga) may be used for unresectable or metastatic ... [5] Context 2: No specific drug is useful in the management of myxomas in Carney complex, with resection being the treatment of choice for cardiac myxomas.

Carney-Stratakis syndrome, also known as Carney-Stratakis dyad, is a rare genetic disorder characterized by the presence of paraganglioma (PGL)/pheochromocytoma and gastrointestinal stromal tumor (GIST). When considering the differential diagnosis for this condition, several other hereditary endocrine tumor syndromes must be included.

• Neurofibromatosis: This is a genetic disorder that affects the nervous system and can cause tumors to form on nerve tissue. It's essential to consider neurofibromatosis in the differential diagnosis of Carney-Stratakis syndrome, especially when there are multiple neoplasms present [9].
• Carney complex: While not directly related to Carney-Stratakis syndrome, Carney complex is a rare genetic disorder that can cause multiple benign tumors to form on various parts of the body. It's crucial to consider this condition in the differential diagnosis, especially when there are skin and endocrine system manifestations [7].
• Adrenal carcinoma: This is a type of cancer that affects the adrenal glands. Adrenal carcinoma should be included in the differential diagnosis for Carney-Stratakis syndrome, particularly when there are symptoms related to hormonal imbalances [3].
• Breast cancer: Although not directly related to Carney-Stratakis syndrome, breast cancer can sometimes be associated with other hereditary endocrine tumor syndromes. It's essential to consider this condition in the differential diagnosis, especially when there are multiple neoplasms present [3].

The treatment of choice for GIST and its metastases is surgical resection, which has an overall rate of 50% [5]. However, it's crucial to note that Carney-Stratakis syndrome is a rare condition, and the differential diagnosis should be carefully considered on a case-by-case basis.

References: [1] by HS Recht · 2020 · Cited by 5 — [3] May 13, 2021 — Differential Diagnoses [5] The differential diagnosis should include Carney-Stratakis dyad. [7] by Y Shi · 2022 · Cited by 1 — [9] Jan 11, 2020 — Differential Diagnosis