Carney triad: Difference between revisions

Latest revision as of 10:50, 15 February 2025

A rare syndrome involving three specific types of tumors

Carney triad is a rare syndrome characterized by the coexistence of three specific types of tumors: gastrointestinal stromal tumors (GISTs), pulmonary chondromas, and paragangliomas. This condition was first described by J. Aidan Carney in 1977.

Clinical Presentation[edit]

Patients with Carney triad typically present with symptoms related to the individual tumors. The clinical manifestations can vary depending on the size and location of the tumors.

Gastrointestinal Stromal Tumors (GISTs)[edit]

GISTs in Carney triad are usually found in the stomach. Patients may experience abdominal pain, gastrointestinal bleeding, or a palpable abdominal mass. These tumors are often discovered incidentally during imaging studies or endoscopic procedures.

Pulmonary Chondromas[edit]

Pulmonary chondromas are benign cartilaginous tumors of the lung. They may be asymptomatic or cause respiratory symptoms such as cough, chest pain, or dyspnea. These tumors are typically detected on chest X-rays or CT scans.

Paragangliomas[edit]

Paragangliomas are neuroendocrine tumors that can occur in various locations, including the adrenal glands and along the sympathetic chain. Symptoms may include hypertension, palpitations, and headaches due to catecholamine secretion.

Pathophysiology[edit]

The exact pathophysiological mechanism underlying Carney triad is not fully understood. Unlike other syndromes involving GISTs, such as Carney-Stratakis syndrome, Carney triad is not associated with germline mutations in the succinate dehydrogenase (SDH) genes. The tumors in Carney triad are thought to arise from a common embryonic origin, but further research is needed to elucidate the genetic and molecular basis of this condition.

Diagnosis[edit]

The diagnosis of Carney triad is based on the identification of the three characteristic tumors. Imaging studies such as CT scans, MRIs, and PET scans are used to detect and evaluate the tumors. Biopsy and histopathological examination are essential for confirming the diagnosis of each tumor type.

Management[edit]

Management of Carney triad involves surgical resection of the tumors when feasible. The approach to treatment is individualized based on the size, location, and symptoms of the tumors. Regular follow-up and monitoring are important due to the potential for tumor recurrence or the development of additional tumors.

Prognosis[edit]

The prognosis for patients with Carney triad varies depending on the extent of the disease and the success of surgical interventions. While the tumors are generally benign, they can cause significant morbidity due to their size and location. Long-term follow-up is necessary to manage potential complications and monitor for new tumor development.

Related pages[edit]

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-Other Names: Gastric leiomyosarcoma, pulmonary chondroma, and extraadrenal paraganglioma
+{{Short description|A rare syndrome involving three specific types of tumors}}
-(KAR-nee TRY-ad)A very rare disorder marked by tumors of the gastrointestinal tract (usually the stomach), [[tumors]] that form in embryonic nervous tissue in the head, neck, and torso, and tumors that form in cartilage in the lungs. Sometimes tumors also form in the [[adrenal glands]] and [[esophagus]]. Carney triad is most common in young females.
+{{Use dmy dates|date=October 2023}}
-== '''Epidemiology''' ==
+'''Carney triad''' is a rare syndrome characterized by the coexistence of three specific types of tumors: [[gastrointestinal stromal tumor]]s (GISTs), [[pulmonary chondroma]]s, and [[paraganglioma]]s. This condition was first described by J. Aidan Carney in 1977.
-Less than 100 cases have been reported worldwide. Carney's triad primarily affects young women (mean age of onset 20 years).
-== '''Cause''' ==
+==Clinical Presentation==
-The etiology is not completely understood. Impaired succinate dehydrogenase (SDH) function resulting from chromosomal losses (but not mutations) has been detected in some patients with Carney's triad, while SDHD, SDHB or SDHC germline mutations have been found in some patients with Carney-Stratakis dyad .
+[[File:Carney's_triad.png|thumb|right|Diagram illustrating the components of Carney triad]]
+Patients with Carney triad typically present with symptoms related to the individual tumors. The clinical manifestations can vary depending on the size and location of the tumors.
-== '''Signs and symptoms''' ==
+===Gastrointestinal Stromal Tumors (GISTs)===
-Most patients initially present with two of the three tumors (incomplete Carney's triad). The main symptoms at presentation are gastrointestinal bleeding, epigastric pain, anemia and palpable abdominal mass. These symptoms are related to the GIST, which occur in 99% of cases. Additional features include headaches, fatigue, anorexia, hypertension and tachycardia. Pulmonary chondromas (well-differentiated benign cartilaginous tumors) occur in approximately 80% of cases. They are often asymptomatic and may be unilateral (83%) or bilateral (32%). Secreting paragangliomas (typically extraadrenal and most often mediastinal) occur in approximately 50% of patients.
+GISTs in Carney triad are usually found in the [[stomach]]. Patients may experience abdominal pain, gastrointestinal bleeding, or a palpable abdominal mass. These tumors are often discovered incidentally during imaging studies or endoscopic procedures.
-For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.
+===Pulmonary Chondromas===
-%-99% of people have these symptoms
+Pulmonary chondromas are benign cartilaginous tumors of the lung. They may be asymptomatic or cause respiratory symptoms such as cough, chest pain, or dyspnea. These tumors are typically detected on chest X-rays or CT scans.
-* Abdominal pain(Pain in stomach)
-* Diarrhea(Watery stool)
-* Fatigue(Tired)
-* Gastrointestinal hemorrhage(Gastrointestinal bleeding)
-* Gastrointestinal stroma tumor
-* [[Leiomyosarcoma]]
-* Nausea and vomiting
-* [[Pheochromocytoma]]
-%-79% of people have these symptoms
+===Paragangliomas===
-* Adrenal overactivity
+Paragangliomas are neuroendocrine tumors that can occur in various locations, including the [[adrenal gland]]s and along the sympathetic chain. Symptoms may include hypertension, palpitations, and headaches due to catecholamine secretion.
-* Adrenocortical [[adenoma]]
-* [[Ascites]](Accumulation of fluid in the abdomen)
-* Mediastinal [[lymphadenopathy]](Swollen lymph nodes in center of chest)
-* [[Paraganglioma]]
-* Pulmonary infiltrates(Lung infiltrates)
-* [[Tachycardia]](Fast heart rate)
-%-29% of people have these symptoms
+==Pathophysiology==
-* [[Anemia]](Low number of red blood cells or hemoglobin)
+The exact pathophysiological mechanism underlying Carney triad is not fully understood. Unlike other syndromes involving GISTs, such as [[Carney-Stratakis syndrome]], Carney triad is not associated with germline mutations in the [[succinate dehydrogenase]] (SDH) genes. The tumors in Carney triad are thought to arise from a common embryonic origin, but further research is needed to elucidate the genetic and molecular basis of this condition.
-* [[Anorexia]]
-* Headache(Headaches)
-* [[Hypertension]]
-== '''Diagnosis''' ==
+==Diagnosis==
-[[Gastroscopy]], [[radiography]] and [[computing tomography]] are the main diagnostic methods. SDH [[genetic testing]] is available. The absence of a paraganglioma, which usually completes the triad after several years (median: 6 years), does not allow exclusion of the diagnosis of Carney's triad. Iodine 131-metoiodobenzylguanidine [[scintigraphy]] and [[Octrescan]]® may help to detect [[paragangliomas]].
+The diagnosis of Carney triad is based on the identification of the three characteristic tumors. Imaging studies such as CT scans, MRIs, and PET scans are used to detect and evaluate the tumors. Biopsy and histopathological examination are essential for confirming the diagnosis of each tumor type.
-'''Differential diagnosis'''
+==Management==
-The differential diagnosis should include Carney-Stratakis dyad.
+Management of Carney triad involves surgical resection of the tumors when feasible. The approach to treatment is individualized based on the size, location, and symptoms of the tumors. Regular follow-up and monitoring are important due to the potential for tumor recurrence or the development of additional tumors.
-== '''Treatment''' ==
+==Prognosis==
-The treatment of choice for GIST and its [[metastases]] (overall rate: 50%) is surgical resection. GIST associated with Carney's triad are mostly [[indolent]]. Recurrence after surgery is found in approximately 50% of patients, with a mean interval after the initial presentation of 12 years.
+The prognosis for patients with Carney triad varies depending on the extent of the disease and the success of surgical interventions. While the tumors are generally benign, they can cause significant morbidity due to their size and location. Long-term follow-up is necessary to manage potential complications and monitor for new tumor development.
-[[Imatinib mesylate]], an effective agent in the treatment of GIST, is under investigation as an adjuvant treatment. [[Paragangliomas]] require surgical resection; [[chemotherapy]] and metabolic [[radiotherapy]] may be used in malignant cases (overall rate: 10%).
+==Related pages==
+* [[Carney complex]]
-[[Surgery]] for pulmonary [[chondromas]] is indicated only in case of impaired lung function. Approaches targeting SDH function may potentially be useful in treating patients with Carney's triad who show SDH deficiencies. However, at present, there is no drug that restores SDH function. Life-long follow-up should be offered to all patients with Carney's triad.
+* [[Carney-Stratakis syndrome]]
+* [[Gastrointestinal stromal tumor]]
+* [[Paraganglioma]]
-[[Category:Medical triads]]
+[[Category:Rare diseases]]
-{{rarediseases}}
+[[Category:Genetic syndromes]]
-{{stub}}
+[[Category:Oncology]]