Carney's triad
Encyclopedia
Carney Triad describes the coexistence of several neoplasms, mainly in young women, including: gastric epithelioid leiomyosarcoma (these are now known to actually be malignant gastrointestinal stromal tumor
s), pulmonary chondroma
, and extra-adrenal paraganglioma
.
Recent advances in molecular biology
have demonstrated that the so-called gastric epithelioid leiomyosarcoma
s actually are gastrointestinal stromal tumor
s (GISTs). This distinction is important as it affects treatment choices. Pathologists, in addition to examining the conventional histological morphology of the tumour using a microscope, now use a special diagnostic technique called immunohistochemistry
to detect the expression of the molecule CD117
(c-kit) to confirm the diagnosis. Clinicians, in turn, typically treat these tumors with a drug that specifically targets mutations in c-kit, called Gleevec; however, there is limited evidence to suggest that GISTs in Carney triad lack c-kit mutations (i.e., they are wild-type), and hence may prove unresponsive to this medication.
Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but this has not been found.
Although both syndromes were described by J. Aiden Carney, the Carney complex
is entirely different. It is a multiple neoplasia syndrome that is generally 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
.
Gastrointestinal stromal tumor
A gastrointestinal stromal tumor is one of the most common mesenchymal tumors of the gastrointestinal tract...
s), pulmonary chondroma
Chondroma
A chondroma is a benign cartilaginous tumor, which is encapsulated with a lobular growing pattern.Tumor cells resemble normal cells and produce the cartilaginous matrix ....
, and extra-adrenal paraganglioma
Paraganglioma
A paraganglioma is a rare neuroendocrine neoplasm that may develop at various body sites . About 97% are benign and cured by surgical removal; the remaining 3% are malignant because they are able to produce distant metastases...
.
Recent advances in molecular biology
Molecular biology
Molecular biology is the branch of biology that deals with the molecular basis of biological activity. This field overlaps with other areas of biology and chemistry, particularly genetics and biochemistry...
have demonstrated that the so-called gastric epithelioid leiomyosarcoma
Leiomyosarcoma
Leiomyosarcoma , aka LMS, is a malignant cancer of smooth muscle....
s actually are gastrointestinal stromal tumor
Gastrointestinal stromal tumor
A gastrointestinal stromal tumor is one of the most common mesenchymal tumors of the gastrointestinal tract...
s (GISTs). This distinction is important as it affects treatment choices. Pathologists, in addition to examining the conventional histological morphology of the tumour using a microscope, now use a special diagnostic technique called immunohistochemistry
Immunohistochemistry
Immunohistochemistry or IHC refers to the process of detecting antigens in cells of a tissue section by exploiting the principle of antibodies binding specifically to antigens in biological tissues. IHC takes its name from the roots "immuno," in reference to antibodies used in the procedure, and...
to detect the expression of the molecule CD117
CD117
Mast/stem cell growth factor receptor also known as proto-oncogene c-Kit or tyrosine-protein kinase Kit or CD117 is a protein that in humans is encoded by the KIT gene...
(c-kit) to confirm the diagnosis. Clinicians, in turn, typically treat these tumors with a drug that specifically targets mutations in c-kit, called Gleevec; however, there is limited evidence to suggest that GISTs in Carney triad lack c-kit mutations (i.e., they are wild-type), and hence may prove unresponsive to this medication.
Multiple tumors in multiple organs in young patients, with occasional sibling involvement, suggested an inherited disorder, but this has not been found.
Although both syndromes were described by J. Aiden Carney, the Carney complex
Carney complex
Carney complex, also known as LAMB syndrome and NAME syndrome is an autosomal dominant condition comprising myxomas of the heart and skin, hyperpigmentation of the skin , and endocrine overactivity It is distinct from Carney's triad...
is entirely different. It is a multiple neoplasia syndrome that is generally 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
Nevus is the medical term for sharply-circumscribed and chronic lesions of the skin. These lesions are commonly named birthmarks and moles. Nevi are benign by definition...
.