A New Clonal Chromosomal Aberration (47, XY, +21) in Atrial Myxoma from an Elderly Male Patient

Myxomas are the most common primary cardiac tumors, with an estimated incidence of 0.5 per million per year. Familial myxoma constitutes 10% of all myxomas, among these tumors, one in ten is part of Carney complex - an autosomal dominant syndrome, which are related to some mutations in the PRKAR1A gene. We report a case of 75-year-old man with sporadic cardiac myxoma of a 4-cm large tumor, arising from the left side of the atrial septum and causing a severe left ventricle inflow obstruction. Cytogenetic analysis confirmed by fluorescence in situ hybridization method (FISH), demonstrated a numerical aberration in atrial myxoma cells: 47, XY, +21. Flow cytometry analysis demonstrated that a quarter of tumors cells were hematopoietic progenitor cells (CD34+) and that a similar number were endothelial specific neovascular cells (CD31+). These finding suggest that, hematopoietic progenitor cells may play an important role in the histogenesis of cardiac myxomas and the karyotype aberrations have an impact on sporadic tumor genesis. Nevertheless, genetic screening for sporadic (non-familial) cardiac myxomas is not recommended.