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Table of Contents
Definition / general | Terminology | Epidemiology | Clinical features | Radiology description | Radiology images | Clinical images | Microscopic (histologic) description | Microscopic (histologic) images | Additional referencesCite this page: Carney syndrome. PathologyOutlines.com website. http://www.pathologyoutlines.com/topic/breastcarneyssyndrome.html. Accessed July 14th, 2017.
Definition / general
- Autosomal dominant syndrome of myxomas / myxoid lesions, spotty skin pigmentation and endocrine overactivity (Am J Surg Pathol 1991;15:713)
- Also considered a familial multiple neoplasia and lentiginosis syndrome
- Linked to PRKAR1A gene (Atlas of Genetics and Cytogenetics) at 17q23-24 (found in 46% of Carney syndrome cases) and CNC2 gene at 2p16 (J Med Genet 2003;40:268)
- First described in 1985 by J. Aidan Carney (Medicine (Baltimore) 1985;64:270, WhoNamedIt.com)
Terminology
- Also called Carney complex
Epidemiology
- Incidence of 70 cases per 100,000 individuals
- Usually white, no gender preference
- Mean age at diagnosis is 10 - 20 years (eMedicine > Cardiology > Carney Complex)
Clinical features
- Myxomas / myxoid fibroadenomas, spotty skin pigmentation and endocrine overactivity
- Also intraductal breast adenoma, spotty pigmentation present from birth, endocrine overactivity, psammomatous melanotic schwannoma (Am J Surg Pathol 1991;15:722)
- Ductal adenoma: palpable painless mass near the areola
- Myxomas occur in heart, but can also occur on the skin (eyelid, external ear canal and nipple) and breast
- Myxomas occur as nodular masses
- ~40% of the patients have multiple and bilateral breast myxomas (breast myxomatosis)
- Bone lesions, osteochondromyxomas or “Carney bone tumor” may also occur
Radiology description
- Myxoma: on mammography appears as well defined, noncalcified, isodense or hypodense mass
- Ultrasound may show well circumscribed, ovoid mass to complex cystic lesion
- Ductal adenoma: soft tissue tumor with coarse microcalcifications, which may be irregular in a linear orientation
Radiology images
Images hosted on other servers:
Hyperintense
nodules corres-
ponding to myxoid
fibroadenomas
Two low density
masses in female
patient with
Carney complex
Solid, ovoid, well circumscribed, hypoechoic lesion in breast
nodules corres-
ponding to myxoid
fibroadenomas
masses in female
patient with
Carney complex
Clinical images
Images hosted on other servers:
Pedunculated, flesh
colored cutaneous
myxoma on trunk
Microscopic (histologic) description
- Myxoma: in reticular dermis, bland stellate and short spindle shaped cells in myxoid (mucinous) stroma with prominent blood vessels
- Ductal adenoma: tubules (longitudinal and parallel) in fibrous stroma
- The tubules are lined by a single row of uniform epithelial cells with vesicular nuclei and eosinophilic cytoplasm
- Secretions may be present in the tubular lumen
Microscopic (histologic) images
Images hosted on other servers:
Breast myxoma at 5× magnification
200×; H&E stain
Polypoid neoplasm of
fibrillary collagen and uniform
stellate cells within abundant
connective tissue mucin
Additional references
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