Carney Complex (CNC)
Epidemiology and Etiology:
- Autosomal dominant (usually)
Common sites:
- heart
- endocrine
- adrenal cortex
- primary pigmented adrenocortical nodular
disease (PPNAD) (almost 100%)
- gonads
- testis:
- large calcifying Sertoli cell tumours (LCSCT)
- ovary
- cysts
- pituitary
- Thyroid
- Non-functioning nodules
- Occasionally follicular or papillary carcinoma
- mucocutaneous (extensive)
- lentigines
- blue nevi
- café-au-lait (smaller and less pigmented than
McCune-Albright) (do not usually enlarge or merge with time unlike NF)
- myxomas
- breast
- PNS:
- Psammomatous melanotic schwannoma (PMS)
- May be along spine, in esophagus or stomach,
mediastinum, or retroperitoneal space or pelvis
Gross features:
Histologic features:
Immunophenotype:
Marker:
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Sensitivity:
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Specificity:
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Molecular features:
- PRKAR1A mutation (inactivating) (most) (17q22-24)
- Codes for a subunit of protein kinase A enzyme that turns it on and off
- Promotes cell growth and division
- 2p16
- Gene within this region has not been discovered
Other features:
References:
- WHO Tumours of Endocrine Organs (2004)
- Emedicine.medscape.com (2013)