Challenges in the Diagnosis of Marginal Zone Lymphoma with Symptoms of Small Intestinal Disease: a Case Report and Scoping Review of the Literature

Background: Marginal zone lymphoma can be accompanied by symptoms of small intestinal disease including abdominal pain and malabsorption. However, the best diagnostic approach for suspected marginal zone lymphoma is unknown and intestinal biopsies are frequently negative. We describe the case of a patient with symptoms of small bowel involvement where marginal zone lymphoma could only be detected upon peripheral lymph node resection. To assess the clinical variability of intestinal marginal zone lymphoma as a rare clinical entity, a scoping review with systematic literature research was performed.

Methods: A 57-year-old man presented with a 10-year history of postprandial abdominal pain, systemic inflammation and recent weight loss. Endoscopies and a surgical small bowel specimen revealed non-specific findings. Flow cytometry from the bone marrow was highly suspicious for marginal zone lymphoma. A 2-F-fluorodeoxyglucose-positron emission tomography/computed tomography (2-F-FDG-PET/CT) showed hypermetabolic lymph nodes on both sides of the diaphragm. Cervical lymph node dissection finally confirmed marginal zone lymphoma. Immunochemotherapy yielded lasting oncological remission and resolved symptoms. We searched PubMed, Embase and Ovid MEDLINE for additional case reports limited to the last 25 years. Five primary search terms combined using "AND" were used freely and as controlled vocabulary. Additional studies were identified by reviewing the reference lists of included articles.

Results: Our review revealed 52 cases of marginal zone lymphoma with small intestinal manifestation. Patients presented with abdominal pain, bowel obstruction, weight loss or gastrointestinal bleeding. Diagnosis was mainly established by surgery (73%). The most frequent endoscopic findings were mucosal erosions and ulcerations. A 2-F-FDG-PET/CT was positive in 9/15 patients. Treatment included rituximab, chemotherapy, surgery and/or radiation resulting in clinical remission in 82% of cases.

Conclusions: Diagnostic workup for suspected small intestinal marginal zone lymphoma is challenging, necessitating a multidisciplinary approach. Endoscopy, imaging including 2-F-FDG-PET/CT and small bowel resection or dissection of hypermetabolic lymph nodes can be useful. If marginal zone lymphoma is suspected vigorous diagnostic efforts are justified since remission can be achieved in most patients. Our review highlights the variable clinical presentation of this underdiagnosed disease and adds systematic data to the literature.