Hamartoma overview On the Web
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A hamartoma (from Greek hamartion “bodily defect”) is a focal malformation that resembles a neoplasm in the tissue of its origin. Hamartoma is a non-malignant tumor, and it grows at the same rate as the surrounding tissues. It is composed of an overgrowth of mature cells and tissues that normally occur in the affected area. They emerge in many different parts of the body and are most often asymptomatic and undetected unless seen on an image taken for another reason (incidentaloma). The most common hamartomas occur in the lungs. About 5–8% of all solitary lung nodules, and about 75% of all benign lung tumors, are hamartomas. Hamartomas mostly arise from connective tissue and are generally formed of cartilage, fat, and connective tissue cells, although they may include many other types of cells. Hamartomas must be differentiated from other diseases that cause abnormal tissue growth and calcification, such as calcified metastases and lipomas. Surgery is the mainstay of treatment for hamartomas.
Hamartomas were first described by Eugen Albrecht, a German pathologist, in 1904.
Hamartomas may be classified into different types based on their location, such as: lung (most common), heart, hypothalamus, kidneys, or spleen. Other classifications can consider lesion class, dividing hamartomas into 4 different categories, such as bone-forming, cartilage-forming, fiber-forming and benign non–matrix-forming.
Hamartomas arise from connective tissue and are generally formed of cartilage, fat, and connective tissue cells, although they may include many other types of cells. They can be located in lung (most common), heart, hypothalamus, kidneys, or spleen. The pathogenesis consists primarily of disorganized replication of normal tissue cells. There are many genetic syndromes that cause multiple hamartomas, such as Peutz-Jeghers syndrome, PTEN hamartoma tumor syndrome, and Cowden’s syndrome. Genes involved in the pathogenesis of harmatomatous syndromes include: BMPR1A, SMAD4, PTEN, and STK11.
Epidemiology and Demographics
The incidence of pulmonary hamartoma is approximately 0.25% in general population. The incidence of other hamartomas remains unknown. Pulmonary hamartomas are estimated to be 8% of all lung neoplasms. Most lesions are diagnosed incidentally. Hamartomatous syndromes are usually first diagnosed among adolescents and adult patients. In general, most hamartomas affect males more commonly than females.
The most potent risk factors in the development of hamartomas are familial hamartomatous syndromes, such as: Cowden’s syndrome, Peutz-Jeghers syndrome, juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, hereditary mixed polyposis syndrome, tuberous sclerosis, and Bannayan-Riley-Ruvalcaba syndrome.
Screening for sporadic hamartoma is not recommended. However, according to the American College of Gastroenterology (ACG), screening for multiple hamartomas by genetic evaluation is recommended among patients with hamartomatous polyposis syndromes, such as juvenile polyposis syndrome, Peutz-Jeghers syndrome, and Cowden’s syndrome.
Differentiating Hamartoma from other Diseases
Natural History, Complications and Prognosis
If left untreated, hamartomas normally grow slowly and may progress to develop a considerable size, however pulmonary hamartomas have low or no malignant potential. Nevertheless, it is essential to rule out the presence of cancer. Common complications of hamartomas will depend on the location and size. Prognosis is generally regraded as excellent.
There is no established system for the staging of hamartomas.
History and Symptoms
Hamartomas are usually asymptomatic. However, in some cases such as, hypothalamic hamartomas and pulmonary hamartomas, symptoms may be more noticeable. In hypothalamic hamartomas, gelastic seizures, visual problems, early onset of puberty, and behavioral problems are the most reported. On the other hand, symptoms of pulmonary hamartoma may result as a respiratory obstruction and include chronic cough, hemoptysis, or fever. It is important to obtain the history about familial inheritance, as it provides insight into the associated conditions.
There are no diagnostic laboratory findings associated with hamartoma. However, in some cases complete blood count, serum electrolytes, urea, and alkaline phosphatase levels may be indicated if the tumor becomes symptomatic.
CT scan is the imaging modality of choice for the diagnosis of pulmonary hamartoma. On CT scan, hamartoma is characterized by focal collections of fat, a lesion with a smooth edge, and collections of fat alternating with foci of calcification.
MRI is the modality of choice for assessment of hypothalamic, spleen, kidney, and other abdominal hamartomas. On MRI, hamartoma is characterized by a heterogeneous signal in T1 and high signal due to fat and cartilaginous components in T2.
Other Diagnostic Studies
There is no established method for prevention of hamartomas.
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