Carney-Komplex
Cardiac
myxoma • Atrial myxoma - Ganzer Fall bei Radiopaedia
Carney
complex: a case with thyroid follicular adenoma without a PRKAR1A mutation. Imaging findings of the thyroid gland. Ultrasonography demonstrated multiple nodules in the thyroid gland (a). The thyroid nodules showed an increased uptake of 99mTc on thyroid scintigraphy (b). The axial (c) and coronal view (d) of the thyroid gland on contrast-enhanced computed tomography showed heterogeneously enhanced multiple tumors with microcalcifications
nicht verwechseln mit: Carney-TriasCarney complex (not to be confused with the Carney triad) is a rare multiple endocrine neoplasia syndrome characterized by :
- cardiac myxoma
- often multiple
- seen in two-thirds of patients with Carney complex
- skin pigmentation (blue nevi): especially of the face, trunk, lips, and sclera
Multiple other features are also well recognized including:
- extracardiac myxoma
- breast
- testis
- thyroid
- brain
- adrenal gland: primary pigmented nodular adrenocortical disease (PPNAD)
- pituitary adenoma
- psammomatous melanotic schwannoma
- testicular tumors
- Sertoli cell tumors: most common
- osteochondromyxoma
Epidemiology
Collectively there have been more than 750 cases of Carney complex reported worldwide however the exact prevalence is unknown . One study of 353 patients found a female predilection (63%) .
Pathology
Carney complex has autosomal dominant inheritance with almost 100% penetrance, related to inactivating mutations or large deletions of the PRKAR1A tumor suppressor gene on chromosome 17q22-24 .
Mnemonic
One way to remember the differentiation between the Carney triad and the Carney complex is that the Carney Complex has Cardiac findings (myxoma).
Siehe auch:
und weiter:
Assoziationen und Differentialdiagnosen zu Carney-Komplex:
