A Rare Case of Gastrointestinal Stromal Tumor with a Liver Metastasis Infiltrating the Inferior Vena Cava and Extending to the Right Atrium with an Early Recurrence after Surgical Extraction

Abstract

Gastrointestinal stromal tumors (GISTs) are mesenchymal tumors of the gastrointestinal tract. The major cause of GIST is the presence of an abnormal form of tyrosine protein kinase (KIT) protein also known as CD117, which causes uncontrollable growth of the gastrointestinal cells. Most studies report incidences between 10 and 15 cases of GISTs per million. Metastases to the liver and peritoneum are the most frequent. We report a case of advanced GIST with a liver metastasis infiltrating the inferior vena cava (IVC) and extending to the right atrium in the form of a large, floating, isolated intracardiac liver metastasis with diastolic prolapsing through the tricuspid valve. This is a very rare manifestation. One week after heart surgery and removal of a 5×6 cm tumor mass from the right atrium and the IVC, echocardiography depicted an early recurrence.

A Huge Pelvic-Abdominal Malignant GIST Tumour in a Patient with Neurofibromatosis Type 1: Case Report and Literature Review

“…Bone and lung metastases are far less common [28,29]. Very rare metastases to the skeletal muscles, adrenal gland, brain, testicles, and heart have also been reported [30][31][32][33]. Sizes larger than 10 cm cystic changes, high cellularity, mitotic figures >10/50 HPF, and coagulative necrosis are all more likely to be associated with metastasis [34].…”

Clinical characteristics and prognosis of gastrointestinal stromal tumors with rare site metastasis (Review)

“…When metastasis to superficial lymph nodes, skin or subcutaneous tissue occurs, a mass may be superficially palpable (28,42,45,55,68,68,73,98). However, when GIST metastasizes to the heart, although no clinical signs are evident in the early stages (24,82,83,99,100), the late stages may manifest as cardiogenic shock (43). When GIST metastasizes to the orbit, a mass may be palpable around the orbit (60) and may manifest as periorbital pain (101), and with involvement of the choroid, vision loss or diplopia may occur (44,48,51,67).…”

“…When GIST metastasizes to the lungs, a dense mass is visible in one or both lungs (18,85,88,97), and in the lymph nodes, GIST metastasis appears on CT images as a hypodense mass with no enhancement when examined using enhanced MRI (39,57,58) and as a hypoechoic cystic or solid mass when examined using ultrasound (28,33,29). No enhancement is seen on chest enhancement CT images when GIST metastasizes to the heart (85,100), and PET-CT reveals high 18 F-fluorodeoxyglucose accumulation in the mass (24,83), with echocardiograms showing a hypoechoic mass in the ventricle or atrium (24,83,99,100). When GIST metastasizes to the orbit, CT shows a hypodense mass with well-defined lesions, and enhanced MRI shows uniform enhancement (20,60), Optical coherence tomography may reveal edema of the optic disc and retinal neuroepithelia (44), while MRI presents a well-defined round nodule with isointensity to eye muscles in T1-weighted sequences and high signal T2-weighted sequences (44,82) and enhancement scans show homogeneous enhancement (20).…”

Low NOX1 Expression in The Cytoplasm of GISTs Correlates With Poor Prognosis

“…Function mutations in KIT or platelet-derived growth factor receptor (PDGFR) genes lead to oncogenic gain of GISTs and constitutive activation of the tyrosine kinase receptor. To date, complete surgical resection and tyrosine kinase inhibitors remains the primary treatment measure for localized GIST [6].…”