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Carney Complex

Genetic predisposition is important in Carney complex, which is a rare disease. Because in the presence of mutation, a predisposition to some types of cancer arises.

What is Carney Complex?


Carney complex usually occurs in childhood or young adulthood, that is, at the age of 18-20, with some skin spots called pigmentation on the skin and tumors that occur in the skin and connective tissue, which can be associated with it, and occasionally in the endocrine, that is, hormone-producing glands. It is an inherited disease characterized by tumors, that is, it can show familial transmission.


What are the symptoms of Carney complex?​


The tumors seen in Carney complex are skin tumors and most of them are connective tissue tumors called myxomas. Tumors originating from the endocrine glands are often benign, but sometimes malignant tumors can also develop. The variation in the meaning of how it arises is therefore very wide. Sometimes it can be seen only with small spots on the skin, sometimes it can appear as tumors or malignant tumors on the skin or connective tissue. It is an inherited disease with autosomal dominant inheritance. It develops as a result of a mutation in the gene that encodes a protein called protein kinase in the body. 70-80 percent of patients have a mutation in this gene.


How is Carney complex diagnosed?


In the diagnosis; Skin spots and tumors are checked to see if they meet certain criteria, and those who meet the criteria are diagnosed. For example, typical brown skin lesions, pigmentations, spots, benign connective tissue tumors called myxoma are typical on the skin. Myxomas appear on the skin, breast or other parts of the body; It also occurs in heart tissue. These are polyp-like, round tumoral structures. Apart from this, there may be tumors in the endocrine glands, that is, in the endocrine glands. For example, a pituitary adenoma may develop in the pituitary gland. If the pituitary adenoma secretes growth hormone, it creates a disease called acromegaly, which occurs in the form of growths in the extreme parts of the body such as the nose, fingers and feet. In addition, thyroid cancer.


How is Carney complex treated?​


The person who is diagnosed with such a disease must first and definitely receive genetic counseling. In other words, whether there is a family component of the disease should be investigated. In addition, an oncological screening is also necessary in order to understand whether there are tumors or cancers that may arise. If there is a mutation in the relevant gene, it is important to follow the disease for life. However, the most important thing among them is genetic counseling. Genetic counseling is essential to pre-identify individuals in whom the potential present disease may present.


FREQUENTLY ASKED QUESTIONS ABOUT CARNEY COMPLEX

What should be done in the presence of Carney Complex mutation?


The probability of developing the disease in the children of the individual carrying the mutation is 50%. In fact, although there is no rule that it will occur in the child of the person with the disease, the risk is still half. Therefore, when such a disease occurs, this mutation must be investigated. If there is a mutation, it is necessary to determine whether there is a mutation in this gene in the first-degree relatives of that person. Because if there is an individual carrying the mutation, these tumors may appear in that person later in his life. In summary, measures such as monitoring them and taking them early if they occur are gaining importance.


What is the probability of having Carney Complex?


It is a rare disease. A total of several hundred cases have been reported worldwide. It is known that about 70-80 percent of these cases are familial. However, the remaining part is sporadic, that is, there is no familial transmission and non-hereditary cases.


Will the Carney Complex get better?


Carney complex is a genetic disease, so the mutation in the gene is unlikely to improve. However, there is no rule that it will necessarily result in a bad cancer. In other words, a person with Carney complex can live until the end of his life without developing any cancer, and the cause of death may not be this disease. However, since the risks for some cancers increase, it is important to detect early whether these cancers will develop or not, so it is important that they undergo screening programs at certain periods.


What should be considered for patients with Carney Complex?


Although there is nothing to be considered especially for this disease, the recommendations that apply to everyone in the name of a healthy life are also valid for these patients. For example, one of the most important factors for pancreatic cancer is obesity, so weight should not be gained. It is among the rules to pay attention to issues such as a healthy diet, quality sleep, a balanced immune system and an active life.  

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