Challenges in the diagnosis of marginal zone lymphoma with symptoms of small intestinal disease: a case report and scoping review of the literature

Konstantinos Markopoulos; Emanuel Bührer; Yara Banz; Heather Dawson; Swantje Engelbrecht; Manfred Essig; Benjamin Misselwitz

doi:10.21037/jgo-22-74

Challenges in the diagnosis of marginal zone lymphoma with symptoms of small intestinal disease: a case report and scoping review of the literature

J Gastrointest Oncol. 2022 Oct;13(5):2583-2607. doi: 10.21037/jgo-22-74.

Authors

Konstantinos Markopoulos^#¹, Emanuel Bührer^#², Yara Banz³, Heather Dawson³, Swantje Engelbrecht⁴, Manfred Essig^#¹, Benjamin Misselwitz^#⁵

Affiliations

¹ Department of Gastroenterology and Internal Medicine Tiefenauspital, Bern, Switzerland.
² Department of Medical Oncology, Inselspital, Bern University Hospital, Bern, Switzerland.
³ Institute of Pathology, University of Bern, Bern, Switzerland.
⁴ Department of Nuclear Medicine, Inselspital, Bern University Hospital, Bern, Switzerland.
⁵ Visceral Surgery and Medicine, Inselspital Bern and Bern University, Bern, Switzerland.

^# Contributed equally.

Abstract

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 2-¹⁸F-fluorodeoxyglucose-positron emission tomography/computed tomography (2-¹⁸F-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 2-¹⁸F-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 2-¹⁸F-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.

Keywords: 2-18F-fluorodeoxyglucose-positron emission tomography/computed tomography (2-18F-FDG-PET/CT); Small bowel; case report; endoscopy; marginal zone lymphoma (MZL).

Publication types

Review