A 75-year old man was admitted due to a 6-month history of 15 kg weight loss, diarrhea
and fever. The physical examination showed cachexia. Important pathological laboratory
values were: erythrocyte sedimentation rate (ESR) 87/96 mm, lactate dehydrogenase
(LDH) 597 U/l (rising to 2030 U/l within 20 days), and albumin 2.2 g/dl. The patient
had macrocytic anemia, and gliadin and endomysial antibody tests were positive.
Upper endoscopy revealed a bulging tumor in the middle part of the esophagus (Figure
[1]) and mucosal atrophy in the duodenum. Microscopic examination of the esophageal
biopsies (Figure [2]) showed that the lesion was an anaplastic large-cell lymphoma. The histological
findings in the duodenal biopsies were consistent with (previously undiagnosed) celiac
disease. Immunostaining of the duodenal intraepithelial lymphocytes showed the aberrant
phenotype CD3+CD8-, which was the same as in the esophageal large-cell lymphoma. In addition, T-cell
receptor γ-chain polymerase chain reaction (PCR) testing disclosed the same monoclonal
rearrangement in both the duodenal and the esophageal biopsy. A bone-marrow biopsy
was positive for anaplastic large-cell lymphoma. One week after diagnosis, the patient
died of pneumonia and septic complications.
Figure 1 Endoscopic image of the middle part of the esophagus. There is a bulging tumor 10
× 3 mm in size, covered with a whitish layer
Figure 2 Histological, immunophenotypic, and genotypic analyses of duodenal intraepithelial
lymphocytes (IEL) and esophageal large cell lymphoma. All duodenal IEL stain for T-cell
associated antigen CD7, but only a few scattered lamina propria lymphocytes are reactive
to CD8, indicating an aberrant CD8-phenotype (upper pair of images). The esophageal
tumor is composed of anaplastic large cells. Both lesions show the same biallelic
monoclonal T-cell receptor-γ-chain gene rearrangement suggesting that the esophageal
lymphoma has emerged from the abnormal duodenal IEL population (lower pair of images)
Intestinal T-cell lymphoma (ITL) usually arises as a complication of celiac disease,
and has therefore been referred to as “enteropathy-type T-cell lymphoma” [1]. To the best of our knowledge, ITL presenting as an esophageal mass has not previously
been reported. It may be hypothesized that in this case, the gluten-triggered intestinal
inflammatory process became self-sustaining, converted to a monoclonal T-cell proliferation,
and on dissemination developed into overt large-cell lymphoma, presenting clinically
as a mid-esophageal mass. The clinical course of patients with ITL is very unfavorable,
due to immediate complications arising from peritonitis and malnutrition and later
from progressive disease. Roughly half of the patients are amenable to chemotherapy.
The 5-year survival ranges from 8 % to 25 % [2]
[3]
[4]
[5].
