United Health Services Johnson City, NY, United States
M'hamed Turki, MD1, Mona Chebaane, MD1, Saif Bella, MD2, Mark Shumeyko, MD2, Ali Timsar, MD3 1United Health Services, Johnson City, NY; 2United Health Services, Binghamton, NY; 3UHS Wilson Hospital, Johnson City, NY
Introduction: Metastatic carcinoma of the liver (MCL) from unknown origin is a common clinical finding that can lead to extensive testing that can be costly and risky. Nevertheless, determining the primary neoplastic site can be challenging and remains of paramount importance for an optimal management. We present the case of a metastatic liver disease that was initially suggesting a primary colorectal cancer.
Case Description/Methods: Our patient is a 50-year-old Caucasian male with no known past medical history. The patient presented with a 1-week history of postprandial stabbing right upper quadrant pain causing anorexia and weight loss. Initial blood workup revealed mildly elevated alkaline phosphatase (206 IU/L) with AST and ALT twice the upper limit. On the abdominal ultrasound, the liver demonstrated a uniformly heterogenous echostexture with multiple intrahepatic masses concerning for metastatic disease (Figure1). These findings warranted a CT Scan of the chest and abdomen that confirmed the ultrasonographic findings of the liver and revealed multiple abdominal and mediastinal adenopathies. CEA and CA 19-9 were moderately elevated.
Given the unclear primary nature of this metastatic liver disease a percutaneous ultrasound-guided liver biopsy was performed. It revealed a moderately differentiated adenocarcionoma, CK20+, CDX2+, CK7-. These findings were consistent with a primary colorectal cancer.
For this patient with no colonic symptoms or anemia and with pathology findings pointing toward a colorectal etiology, a colonoscopy was performed revealing a normal lower gastrointestinal tract. Prior to the procedure and considering the dissociation between the clinical and the pathological findings, a consent for an upper endoscopy was obtained. The upper endoscopy found a Siewert-Stein type II cardial medium-sized fungating mass that was partially obstructing the lumen, no salmon colored changes were observed (Figure2). Pathology reading showed an invasive moderately differentiated adenocarcinoma with the same immunophenotype found on the liver biopsy (CK20+, CDX2+, CK7-).
Discussion: The gastroesophageal junction adenocarcinoma (GEA) is a rare neoplasm with a poor prognosis and a rising incidence. Over the last decades, immunohistochemistry became a useful pathological tool in the oncological field with the phenotype CK7-/CD20+/CDX2+ being almost pathognomonic of colorectal cancer.
Our case is unique as it describes a rare case of GEA with a colorectal immunophenotype expression.
Figure: Figure 1: Ultrasound of the abdomen with grayscale evaluation showing diffuse heterogeneous echogenicity with multiple intrahepatic masses, areas of increased echogenicity are uniformly present some of which may contain some central necrosis.
Figure 2: Upper endoscopy showing a gastroesophageal, medium size, fungating mass with a small hiatal hernia. Esophagus otherwise normal with no salmon colored changes.
Disclosures: M''hamed Turki indicated no relevant financial relationships. Mona Chebaane indicated no relevant financial relationships. Saif Bella indicated no relevant financial relationships. Mark Shumeyko indicated no relevant financial relationships. Ali Timsar indicated no relevant financial relationships.
M'hamed Turki, MD1, Mona Chebaane, MD1, Saif Bella, MD2, Mark Shumeyko, MD2, Ali Timsar, MD3. P2462 - Are You Able to Tell Where the Primary Tumor Is?, ACG 2021 Annual Scientific Meeting Abstracts. Las Vegas, Nevada: American College of Gastroenterology.