Harmful Diagnosis Research Articles

INTRODUCTION: Signet-ring cell mucinous adenocarcinoma is an unusual phenomenon, accounting for less than one percent of all colorectal cancers. In this case report, we describe the instance of an adult male whose symptoms of intermittent hiccups and right lower quadrant pain were actually bellwethers of an exceedingly rare and aggressive underlying malignant process. CASE DESCRIPTION/METHODS: A 59 year-old male with past medical history of vitiligo, cholelithiasis, and left inguinal hernia repair, presented to the Emergency Department (ED) with intermittent hiccups and abdominal discomfort. He described that these symptoms had progressed to nausea, vomiting, and a thirty-pound weight loss over a two-month period. Prior ED visits at two separate hospitals had diagnosed the patient with constipation and discharged him home. Upon admission, the patient was hemodynamically stable and labs were significant for a leukocytosis of 16.6 K/uL, potassium of 2.1 mmol/L, BUN/creatinine of 74/2.78 mg/dL, total bilirubin of 1.5 mg/dL, and a lipase of 843 U/L. Computed tomography (CT) of the abdomen and pelvis revealed a new small ascites collection and peritoneal carcinomatosis, suggestive of adenocarcinoma (Figure 1). CA 19-9 and CEA were elevated to 1477 U/mL and 4.9 ng/mL, respectively. Colonoscopy was performed, which identified friable mucosa at the sigmoid colon that was sent for biopsy (Figure 2). Based on histologic analysis, the patient was diagnosed with signet-ring cell mucinous adenocarcinoma of the sigmoid colon (Figure 3). Further work-up found evidence of metastases to the gallbladder and peritoneum, and the patient ultimately died from complications of his disease less than two months from the initial date of diagnosis. DISCUSSION: Signet-ring cell carcinoma (SRCC), with a reported incidence of 0.1% to 0.9% in the colon, is known for its distinctive “linitis plastica” appearance and aggressive disease pattern. In healthcare, we tend to attribute benign symptoms to common and less harmful diagnoses, often to the detriment of the patient. As with the patient described here, cases of signet-ring cell carcinoma are typically diagnosed at a more advanced tumor stage and in younger individuals compared to other colorectal cancers. SRCC most frequently metastasizes to the peritoneum and confers a particularly poor prognosis once it has done so, despite systemic or intraperitoneal chemotherapy. This case illustrates the need for critical thinking and thorough evaluation of even the most benign presenting symptoms.Figure 1.: CT Abdomen/Pelvis demonstrating peritoneal carcinomatosis.Figure 2.: Colonoscopy revealing erythema and friable mucosa at the sigmoid colon.Figure 3.: Sigmoid biopsy reveals pools of mucin dissecting through the lamina propria and submucosa. Within the mucin pools are malignant appearing epithelial cells, some showing signet ring morphology.