Carney Complex

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What is Carney Complex ?

Carney complex is a hereditary condition associated with spotty skin pigmentation, myxomas (benign [noncancerous] connective tissue tumors), and benign or cancerous tumors of the endocrine (hormone producing) glands. Symptoms of Carney complex typically develop when a person is in his or her early 20s. Skin pigmentation and heart myxomas or other heart problems are usually the first signs of the condition.The spotty skin pigmentation is found on lips, inner and outer corners of the eyes, the conjunctiva (membrane lining) of the eye, and around the genital area. Other common features of Carney complex are Cushing's syndrome (a combination of weight gain, high blood pressure, diabetes, and easy bruising, caused by the overproduction of the hormone cortisol) and multiple thyroid nodules (tumors). Although people with Carney complex have an increased risk of cancer, most tumors are benign.

Carney complex is also referred to as:

NAME syndrome - Nevi (birthmarks or moles), Atrial myxoma, Myxoid neurofibromas, and Ephelides (freckles)

LAMB syndrome - Lentigines, Atrial Myxoma, and Blue nevi

What causes Carney complex?

Carney complex is a genetic condition. This means that the risk of developing cancer and other features of Carney complex can be passed from generation to generation in a family through gene(s) mutations (alterations). In particular, researchers have learned more about how the gene called PRKAR1A is associated with Carney complex, through its involvement with regulating the body's cell signaling with protein kinase A (PKA). Researchers believe that more than 60% of people with Carney complex have a mutation in thePRKAR1A gene and up to 6% may have deletions in this gene. To date, a total of 125 different PRKAR1Amutations have been found. Most of the mutations are unique, meaning they are identified in single families only. So far, no strong association between particular mutation type and certain symptoms of Carney complex, such as cancer, has been seen.

People without a mutation in PRKAR1A typically start to show mild symptoms later in life. These patients less frequently have other family members affected by Carney complex, i.e. the syndrome in that person is considered sporadic (occurs by chance).The search for other genes that might be associated with Carney complex continues.

How is Carney complex inherited?

Normally, every cell has two copies of each gene: one inherited from the mother and one inherited from the father. Carney complex follows an autosomal dominant inheritance pattern, in which a mutation happens in only one copy of the gene. This means that a parent with a gene mutation may pass along a copy of their normal gene or a copy of the gene with the mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. A brother, sister, or parent of a person who has a mutation also has a 50% chance of having the same mutation.

How common is Carney complex?

Carney complex is very rare. About 500 cases have been reported worldwide. It is estimated that between 60% and 75% of cases of Carney complex run in families. The remaining 25% to 40% of cases appear to be sporadic (occurs by chance) and may be due to a de novo (new) gene mutation.

How is Carney complex diagnosed?

Carney complex is very rare. About 500 cases have been reported worldwide. It is estimated that between 60% and 75% of cases of Carney complex run in families. The remaining 25% to 40% of cases appear to be sporadic and may be due to a de novo (new) gene mutation.

Major diagnostic features for CNC

Spotty skin pigmentation with specific pattern and locations

Myxoma (noncancerous tumors)

Cardiac myxoma

Breast myxomatosis

Breast ductal adenomas

Primary pigmented nodular adrenocortical disease (PPNAD) or abnormal result of urine test called Liddle's test, related to Cushing's syndrome

Acromegaly (increased size of hands, feet, and face due to a pituitary tumor)

Testicular neoplasm called large cell calcifying Sertoli cell tumor (LCCST)

Thyroid cancer

Psammomatous melanotic schwannoma (tumors that grow on nerves)

Blue nevi (blue-black moles)

Osteochondromyxoma (bone tumors)

Genetic testing for mutations in the PRKAR1A gene is available for people suspected to have Carney complex; if a patient has a PRKAR1A mutation and one of the above tumors or other conditions, then he or she is diagnosed with Carney complex.

In addition, other physical symptoms have been seen in people with Carney complex. These physical signs may suggest Carney complex, but they are not considered major diagnostic features. Research is ongoing to learn more about these symptoms and their link, if any, to the condition.

Significant freckling (without darkly pigmented spots or typical pattern)

Blue nevus (if multiple and confirmed by biopsy)

Café-au-lait spots (light brown spots on skin) or other "birthmarks"

Abnormal blood test results of high insulin-like growth factor 1 (IGF-I) levels, abnormal glucose tolerance test (GTT), and/or paradoxical growth hormone (GH) response to thyrotropin-releasing hormone (TRH) testing when there is no clinical acromegaly. Also, high levels of a hormone called prolactin in the blood. This is called hyperprolactinemia and is usually paired with acromegaly.

Cardiomyopathy (diseases of the heart muscle)

Pilonidal sinus (an abscess in the buttock cleft)

Extended family history of Cushing's syndrome, acromegaly, or sudden death

Multiple skin tags or other skin lesions called lipomas

Polyps (benign growths) in the colon, usually along with acromegaly

A single, noncancerous thyroid nodule in a younger person, as well as multiple thyroid nodules in an older patient

Family history of cancer, in particular of the thyroid, colon, pancreas, and ovary

What are the estimated cancer risks associated with Carney complex?

The risk of cancer is increased in people who have Carney complex, but the specific risk for cancer is unknown. Types of cancer reported in people with Carney complex include adrenocortical carcinoma, pituitary gland tumors, thyroid, colorectal, and pancreatic cancers. Ovarian cancer and tumors of the testes (a man's testicles) involving the Sertoli or Leydig cells has also been reported.

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