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Cardiogenetics
Volume 2
Issue 1
10.4081/cardiogenetics.2012.e3
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Cardiogenetics is published by MDPI from Volume 10 Issue 2 (2020). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with PAGEPress.
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Case Report

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

by
Ewa Stępień
1,*,
Grzegorz Grudzień
2,
Marek Andres
3,
Małgorzata Jakóbczyk
4,
Dorota Czapczak
5,
Przemysław Kapusta
6,
Wiesław Frasik
7,
Tomasz Myrdko
2 and
Jerzy Sadowski
2
1
Department of Clinical Biochemistry, Faculty of Medicine, Jagiellonian University Medical College, Krakow
2
Department of Cardiac and Vascular Surgery and Transplantology, Faculty of Medicine, Jagiellonian University Medical College, Krakow
3
Center for Interventional Cardiology, John Paul II Hospital, Krakow
4
Department of Haematology, Faculty of Medicine, Jagiellonian University Medical College, Krakow
5
Laboratory for Research of Genetic Predisposition, Maria Sklodowska-Curie Memorial Cancer Center and Institute of Oncology, Warsaw
6
Laboratory for Molecular Biology and Research, John Paul II Hospital, Krakow
7
Histopathology Unit, John Paul II Hospital, Krakow, Poland
*
Author to whom correspondence should be addressed.
Cardiogenetics 2012, 2(1), e3; https://doi.org/10.4081/cardiogenetics.2012.e3
Submission received: 18 September 2011 / Revised: 7 February 2012 / Accepted: 10 February 2012 / Published: 16 February 2012

Abstract

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.
Keywords: atrium; cardiac surgery; haematopoietic progenitor cells; myxoma; trisomy atrium; cardiac surgery; haematopoietic progenitor cells; myxoma; trisomy

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MDPI and ACS Style

Stępień, E.; Grudzień, G.; Andres, M.; Jakóbczyk, M.; Czapczak, D.; Kapusta, P.; Frasik, W.; Myrdko, T.; Sadowski, J. A New Clonal Chromosomal Aberration (47, XY, +21) in Atrial Myxoma from an Elderly Male Patient. Cardiogenetics 2012, 2, e3. https://doi.org/10.4081/cardiogenetics.2012.e3

AMA Style

Stępień E, Grudzień G, Andres M, Jakóbczyk M, Czapczak D, Kapusta P, Frasik W, Myrdko T, Sadowski J. A New Clonal Chromosomal Aberration (47, XY, +21) in Atrial Myxoma from an Elderly Male Patient. Cardiogenetics. 2012; 2(1):e3. https://doi.org/10.4081/cardiogenetics.2012.e3

Chicago/Turabian Style

Stępień, Ewa, Grzegorz Grudzień, Marek Andres, Małgorzata Jakóbczyk, Dorota Czapczak, Przemysław Kapusta, Wiesław Frasik, Tomasz Myrdko, and Jerzy Sadowski. 2012. "A New Clonal Chromosomal Aberration (47, XY, +21) in Atrial Myxoma from an Elderly Male Patient" Cardiogenetics 2, no. 1: e3. https://doi.org/10.4081/cardiogenetics.2012.e3

APA Style

Stępień, E., Grudzień, G., Andres, M., Jakóbczyk, M., Czapczak, D., Kapusta, P., Frasik, W., Myrdko, T., & Sadowski, J. (2012). A New Clonal Chromosomal Aberration (47, XY, +21) in Atrial Myxoma from an Elderly Male Patient. Cardiogenetics, 2(1), e3. https://doi.org/10.4081/cardiogenetics.2012.e3

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