Carney syndrome

From Dog
Pituitary gland of a dog with Carney syndrome. The pituitary gland is enlarged and contains multiple Rathke's cleft cysts[1]

Carney syndrome (Carney-Stratakis dyad, Carney triad, LAMB syndrome) is a rare disease of dogs characterized by myxosarcoma[2], adrenal adenoma and pituitary adenoma[3].

This syndrome is a genetically heterogeneous, autosomal dominant disease which results in multiple cardiac, endocrine, cutaneous, and neural tumors, as well as a variety of pigmented lesions of the skin and mucosae[1].

The diagnosis requires two or more of the following: cardiac myxomasarcoma (usually affecting the left atrium), primary pigmented nodular adrenocortical disease with or without Cushing' syndrome, growth hormone- or prolactin-producing pituitary adenomas, melanocytic nevi, thyroid nodular hyperplasia or carcinoma, testicular neoplasms, schwannoma, and certain other proliferative lesions.

In approximately 40% of cases, a variety of inactivating mutations of the protein kinase A R1 alpha regulatory subunit (PRKAR1A) and subsequent unregulated protein kinase A signaling have been described[4].

References

  1. 1.0 1.1 Adissu HA et al (2010) Cardiac myxosarcoma with adrenal adenoma and pituitary hyperplasia resembling Carney complex in a dog. Vet Pathol 47(2):354-357
  2. Roberts SR (1959) Myxoma of the heart in a dog. J Am Vet Med Assoc 134:185–188
  3. Celestino R et al (2012) Molecular alterations and expression of succinate dehydrogenase complex in wild-type KIT/PDGFRA/BRAF gastrointestinal stromal tumors. Eur J Hum Genet Sep 5
  4. Kirschner LS et al (2000) Genetic heterogeneity and spectrum of mutations of the PRKAR1A gene in patients with the carney complex. Hum Mol Genet 9:3037–3046