Neurosurgery notes/Tumours/Tumour syndrome/Carney complex (CNC)

Carney complex (CNC)

View Details
Status
Done
logo
Parent item
Tumour syndrome

General

  • A rare syndrome
  • An autosomal dominant disorder

Clinical features

  • Myxomas (cutaneous and cardiac)
  • Spotty pigmentations
  • Tumours
    • Pituitary adenomas
      • 10% have pituitary adenomas
      • 75% of patients having subclinical elevation of GH, IGF- 1, and prolactin.
        • Cushing syndrome associated with adrenal hyperplasia
        • Acromegaly
    • Schwannomas
      • Psammomatous melanotic type arising from Schwann cells
      • 10% of CNC cases
notion image
notion image

Genetic features

  • Heterogeneous
    • Associated germline mutations include
      • CNC1 loci at 17q22- 24
        • Encodes protein kinase A regulatory subunit Ia (PRKAR1A)
          • Normally PRKAR1A encodes the type 1A regulatory subunit of PKA → inhibiting PKA
          • CNC causes a loss-of-function germline mutations of PRKAR1A → cannot inhibit PKA → increase PKA activity leading to increase in downstream pathway activation
            • ERK
            • TGF-beta
            • WNT
      • CNC1 loci at 2p16