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

Abstract

Li-Fraumeni syndrome (LFS) is a well-defined autosomal dominant predisposition syndrome due to TP53 germline mutation that causes many cancer malignancies. This early-onset syndrome poses a state of widespread malignancy. Such 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 organs. The tumors initially identified in LFS can eventually propagate to cause secondary malignancies. LFS contributes to multiple cancers in individuals with defective p53 inheritance. When 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 mass. In LFS cases, it is certain to presume these masses as cancers and plan their management employing invasive surgeries after performing all efficient diagnostic tools. There are only poor predictions to rule out the chances of any other pathology. This criterion emphasizes the necessity to speculate alternative precision diagnostic methods to affirm such new growth or masses encountered in LFS cases. Moreover, it has all the possibilities to ultimately influence surgical procedures that may be invasive or complicate operative prognosis. Hence, it is essential to strategize an ideal protocol to diagnose any new unexplored mass in the LFS community. In this editorial, we discuss the importance of diagnostic approaches on naïve pristine masses in LFS.

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

Core Tip: In this editorial, we comment on a case report by Huffaker et al. According to the authors of this article, the objective of presenting this case was to bring medical attention to evolve effective strategies to detect and manage cardiac masses in rare clinical conditions like Li-Fraumeni syndrome (LFS). Though it has been reported in many cancers, its presence should not rule out other possible predictions in the diagnosis of unexplored cardiac masses. Hence in this editorial article, we will focus specifically on the significance of alternative modus operandi to scrutinize cardiac masses in LFS.