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Complexity in interpreting cardiac valve-associated thrombus from tumors in Li-Fraumeni syndrome

World Journal of Clinical Cases 2024年第31期12卷 6431-6435页

作者： sainath prasanna bharathi Velmurugan Ramaiyan Department of Pharmacology Saveetha College of PharmacySaveetha Institute of Medical and Technical SciencesChennai 602105India

Li-Fraumeni syndrome(LFS)is a well-defined autosomal dominant predisposition syndrome due to TP53 germline mutation that causes many cancer *** early-onset syndrome poses a state of widespread *** an inherited condition possessing defective p53,guardian of the genome,in the germline has the potential to cause multiple cancers by predominantly affecting mesenchyme(connective tissues,blood cells),breast,brain,and adrenal cortex *** tumors initially identified in LFS can eventually propagate to cause secondary *** contributes to multiple cancers in individuals with defective p53 *** suspected to possess any mass,patients with other co-morbidities,in particular those with certain cardiovascular conditions,undergo screening using high-throughput techniques like transthoracic and transesophageal echocardiography or cardiothoracic magnetic resonance imaging to locate and interpret the size of the *** LFS cases,it is certain to presume these masses as cancers and plan their management employing invasive surgeries after performing all efficient diagnostic *** are only poor predictions to rule out the chances of any other *** criterion emphasizes the necessity to speculate alternative precision diagnostic methods to affirm such new growth or masses encountered in LFS ***,it has all the possibilities to ultimately influence surgical procedures that may be invasive or complicate operative ***,it is essential to strategize an ideal protocol to diagnose any new unexplored mass in the LFS *** this editorial,we discuss the importance of diagnostic approaches on naïve pristine masses in LFS.

关键词： Li-Fraumeni syndrome Atrial septal defect Cardiac masses Transthoracic echocardiography Transesophageal echocardiography Thrombus Magnetic resonance imaging

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