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Carney Complex : Pathogenesis

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Pathogenesis of Cardiac Myxomas (CM): The cell of origin is uncertain. The tumor cells are similar to multipotent mesenchymal stem cells which can differentiate into cardiac, neuroendocrine, glandular and endothelial cells.

Carney Complex: Patients with Carney Complex appear to have two susceptibility loci CNC1 and CNC2. CNC1 located at 17q23-24 has a tumor suppressor gene PRKAR1A encoding cAMP-dependent regulatory subunit of protein kinase A. Germline inactivating mutations in this gene have been found in about 70% of individuals with Carney Complex. Sporadic CM does not have single gene mutations. However, structural rearrangement of PRKAR1A has been found in one-third of sporadic CM cases.

About this image: MR images of a psammomatic melanotic schwannoma of the spine in a patient with Carney Complex (red arrows). Image Source: Courcoutsakis NA et al. The complex of myxomas, spotty skin pigmentation and endocrine overactivity (Carney complex): imaging findings with clinical and pathological correlation. Insights Imaging. 2013 Feb; 4(1): 119-133; image cropped from the original and used under Creative Common Attribution License.

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