Intestinal T‐cell lymphoma with enteropathy‐associated T‐cell lymphoma‐like features arising in the setting of adult autoimmune enteropathy

Abstract

Enteropathy-associated T-cell lymphoma is regarded as a dismal, late complication of coeliac disease, though a single case of T-cell lymphoma with such features arising in the setting of autoimmune enteropathy of the adult has been reported to date. We aim to describe the case of a 41-year-old woman complaining of severe malabsorption syndrome, who was diagnosed with autoimmune enteropathy based on the presence of flat intestinal mucosa unresponsive to any dietary restriction and positivity for enterocyte autoantibodies. Steroid therapy led to a complete recovery of both mucosal and clinical findings over 12 years, when disease relapse was accompanied by the appearance of monoclonal rearrangement of T-cell receptor-γ and peculiar T-cell phenotypic abnormalities, leading to a rapid transition to an overt T-cell lymphoma with features of the enteropathy-associated subtype. Despite intensive treatment, the patient developed cerebral metastasis and died 9 months later. Our case enhances the concept of enteropathy-associated T-cell lymphoma as a disease that may arise in the setting of enteropathies other than coeliac disease, thus representing a heterogeneous entity. Moreover, our observations support the need of a close follow-up of these patients, coupled with comprehensive characterization of mucosal biopsies.

Adult-Onset Autoimmune Enteropathy in an European Tertiary Referral Center

“…Development of EATL in patients with AIE has been sporadically reported, but this has not occurred in our case series including 70 patients after 4 years of follow-up (51,52). In contrast to RCD type 2 where phenotypical analysis can accurately identify a premalignant IEL population, in AIE, no such population is present and patients are therefore screened with the less specific TCRG clonality analysis (19).…”

Clinical manifestations, diagnosis and long-term prognosis of adult autoimmune enteropathy: Experience from Peking Union Medical College Hospital

“…Likewise, the Mayo Clinic group reported that IELs are increased in 50% of AIE patients[ 7 ]. Moreover, IEL might be related to the process of AIE proceeding to enteropathy associated T cell lymphoma[ 19 ]. The number of apoptotic bodies is increased in approximately half of our duodenal and ileal biopsies and in approximately half of the AIE cases reported in the literature.…”

Enteropathies with villous atrophy but negative coeliac serology in adults: current issues

“…Patients affected by CVID enteropathy are burdened by a high mortality, 33 39 mainly due to development of infectious and malignant complications. Also patients with AE can develop lymphoproliferative complications, 35 40 and an American study showed an increased mortality in patients with AE, comparable to those affected by refractory CD. 41 …”