The Carneys

Question 1

Carney complex gene

Answer 1

Chrom 17 PRKAR1A (mnemonic Parker 1A)

Autosomal dominant

Question 2

Carney complex clinical features

Answer 2

Atrial myxoma
Skin myxomas (must raise possibility of Carney Complex if sees one in bx)
Endocrine (Cushing’s syndrome - ACTH independent due to primary pigmented nodular adrenocorticol disease)
Lentigines
Schwannomas
Epithelioid blue nevus
Calcifying sertoli cell tumour of testis

Subsets:
LAMB (Lentigines, atrial myxomas, blue nevi)
NAME (Nevi, atrial myxomas, myxoid neurofibromas, epeilides)

Question 3

Carney triad gene

Answer 3

Unknown

Question 4

Carney triad clinical features

Answer 4

MEN syndrome
Gastric GISTs (epithelioid type)
Pulmonary chondroma
Extra-adrenal paraganliomas

Also increased risk in: pheochromocytoma, oesophageal leiomyomas, adrenocorticol adenoma

Question 5

Carney-Stratakis syndrome gene

Answer 5

A mitochondrial tumour supressor gene

Question 6

Carney-Stratakis clinical features

Answer 6

GISTs

Paragangliomas