Carney triad (CT) is characterized by the coexistence of three types of

neoplasm A neoplasm () is a type of abnormal and excessive growth of tissue. The process that occurs to form or produce a neoplasm is called neoplasia. The growth of a neoplasm is uncoordinated with that of the normal surrounding tissue, and persists ...

s, mainly in young women,OMIM - Online Mendelian Inheritance in Man. Carney Triad (OMIM 604287

/ref> including gastric gastrointestinal stromal tumor, pulmonary

chondroma A chondroma is a benign cartilaginous tumor, which is encapsulated with a lobular growing pattern. Tumor cells (chondrocytes, cartilaginous cells) resemble normal cells and produce the cartilaginous matrix (amorphous, basophilic material). Prese ...

, and extra-

adrenal The adrenal glands (also known as suprarenal glands) are endocrine glands that produce a variety of hormones including adrenaline and the steroids aldosterone and cortisol. They are found above the kidneys. Each gland has an outer cortex which ...

paraganglioma A paraganglioma is a rare neuroendocrine tumour, neuroendocrine neoplasm that may develop at various body sites (including the head, neck, thorax and abdomen). When the same type of tumor is found in the adrenal gland, they are referred to as a p ...

.Carney JA. "The triad of gastric epithelioid leiomyosarcoma, pulmonary chondroma, and functioning extra-adrenal paraganglioma: a five-year review." ''Medicine'' (Baltimore). 1983;62(3): 159-169. The underlying genetic defect remains elusive. CT is distinct from

Carney complex Carney complex and its subsets LAMB syndrome and NAME syndrome are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin ( lentiginosis), and endocrine overactivity. It is distinct from Carney triad ...

and Carney–Stratakis syndrome.

Background

Carney triad (CT), named for J. Aidan Carney, is considered to be a specific type of multiple endocrine neoplasia (MEN). The three classically associated tumors are a subset of gastric epithelioid

leiomyosarcoma A leiomyosarcoma (LMS) is a rare malignant (cancerous) smooth muscle tumor. The word is . The stomach, bladder, uterus, blood vessels, and Gastrointestinal tract, intestines are examples of hollow organs made up of smooth muscles where LMS can be ...

(it is now known that this subset is actually

gastrointestinal stromal tumor Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal neoplasms of the gastrointestinal tract. GISTs arise in the smooth muscle pacemaker interstitial cell of Cajal, or similar cells. They are defined as tumors whose behavior i ...

arising from the

interstitial cells of Cajal Interstitial cells of Cajal (ICC) are interstitial cells found in the gastrointestinal tract. There are different types of ICC with different functions. ICC and another type of interstitial cell, known as platelet-derived growth factor recep ...

), pulmonary

, and extra-

. The condition manifests more commonly in females. Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but the underlying genetic basis has not been identified. In addition to these three classical tumors, there is an increased incidence of pheochromocytoma, esophageal leiomyoma and adrenocortical adenoma.Stratakis CA, Carney JA. The triad of paragangliomas, gastric stromal tumours and pulmonary chondromas (Carney triad), and the dyad of paragangliomas and gastric stromal sarcomas (Carney-Stratakis syndrome): molecular genetics and clinical implications. J Intern Med. 2009;266(1):43. The original description employed the then-prevailing terminology of gastric epithelioid

. Subsequent advances in

molecular biology Molecular biology is a branch of biology that seeks to understand the molecule, molecular basis of biological activity in and between Cell (biology), cells, including biomolecule, biomolecular synthesis, modification, mechanisms, and interactio ...

have led to the current terminology of

s (GISTs). However, there is limited evidence to suggest that the

s (GIST) in Carney triad lack

CD117 Proto-oncogene c-KIT is the gene encoding the receptor tyrosine kinase protein known as tyrosine-protein kinase KIT, CD117 ( cluster of differentiation 117) or mast/stem cell growth factor receptor (SCFR). Multiple transcript variants encoding d ...

(c-kit) mutations (i.e., they are wild-type), and hence these GISTs may prove unresponsive to

Imatinib Imatinib, sold under the brand names Gleevec and Glivec (both marketed worldwide by Novartis) among others, is an oral targeted therapy medication used to treat cancer. Imatinib is a small molecule inhibitor targeting multiple tyrosine kinases ...

Taxonomy

Carney triad is distinct from two other multiple neoplasia syndromes, also described by J. Aidan Carney.

Carney complex

The

is a distinct entity, characterized by myxomatous neoplasms (cardiac, endocrine, cutaneous and neural), and a host of pigmented lesions of the skin and mucosae, including the rarely occurring epitheloid blue

nevus Nevus () is a nonspecific medical terminology, medical term for a visible, circumscribed, chronic (medicine), chronic lesion of the skin or mucosa. The term originates from , which is Latin for "birthmark"; however, a nevus can be either cong ...

.Iglesias C, Torrelo A, Colmenero I, Mediero IG, Zambrano A, Requenca L. Isolated multiple congential epithelioid blue naevus. ''British Journal of Dermatology'' 2005;152:391-393.

Carney–Stratakis syndrome

A third condition, the Carney–Stratakis syndrome (CSS), describes the dyad of hereditary

(GIST) and

, that is caused by germline

mutation In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, ...

s in the

mitochondria A mitochondrion () is an organelle found in the cells of most eukaryotes, such as animals, plants and fungi. Mitochondria have a double membrane structure and use aerobic respiration to generate adenosine triphosphate (ATP), which is us ...

tumor suppressor gene A tumor suppressor gene (TSG), or anti-oncogene, is a gene that regulates a cell (biology), cell during cell division and replication. If the cell grows uncontrollably, it will result in cancer. When a tumor suppressor gene is mutated, it results ...

pathway involving the

succinate dehydrogenase Succinate dehydrogenase (SDH) or succinate-coenzyme Q reductase (SQR) or respiratory complex II is an enzyme complex, found in many bacterial cells and in the inner mitochondrial membrane of eukaryotes. It is the only enzyme that participates ...

subunits

SDHD Succinate dehydrogenase biquinonecytochrome b small subunit, mitochondrial (CybS), also known as succinate dehydrogenase complex subunit D (SDHD), is a protein that in humans is encoded by the ''SDHD'' gene. Names previously used for SDHD were ...

SDHC Secure Digital (SD) is a proprietary, non-volatile, flash memory card format developed by the SD Association (SDA). Owing to their compact size, SD cards have been widely adopted in a variety of portable consumer electronics, including digi ...

and

SDHB Succinate dehydrogenase biquinoneiron-sulfur subunit, mitochondrial (SDHB) also known as iron-sulfur subunit of complex II (Ip) is a protein that in humans is encoded by the ''SDHB'' gene. The succinate dehydrogenase (also called SDH or Compl ...

References

{{reflist, 30em Medical triads