Table of Contents
Definition / general | Terminology | ICD coding | Epidemiology | Etiology | Sites | Clinical features | Prognostic factors | Case reports | Postulated normal counterpart | Gross description | Gross images | Microscopic (histologic) description | Microscopic (histologic) images | Positive stains | Negative stains | Molecular / cytogenetics description | Differential diagnosis | Additional referencesCite this page: Luca DC. Enteropathy associated. PathologyOutlines.com website. https://www.pathologyoutlines.com/topic/lymphomanonBenteropathy.html. Accessed January 17th, 2021.
Definition / general
- Enteropathy associated T cell lymphoma (EATL) is an intestinal tumor of intraepithelial T lymphocytes showing varying degrees of transformation but usually presenting as a tumor composed of large, often polymorphic lymphoid cells, which are negative for CD56
Terminology
- Also called intestinal T cell lymphoma (with or without enteropathy), but many other T cell lymphomas can present with intestinal involvement
ICD coding
- ICD-O: 9717 / 3 - intestinal T cell lymphoma
Epidemiology
- Rare aggressive disease associated with gluten sensitive enteropathy (celiac disease)
- Higher frequency in areas with high prevalence of celiac disease (northern Europe)
- Monomorphic variant (type II EATL): 10% - 20% of cases of EATL, broader geographic distribution and sporadic occurrence in areas where celiac disease is rare (Asia)
Etiology
- Lymphomas of small intestine may derive from various subsets of intestinal intraepithelial lymphocytes that are differentially activated by diverse antigenic stimuli
- Association with celiac disease: positive serology, HLA DQ2 or DQ8 expression, dermatitis herpetiformis, hyposplenism
- Monomorphic variant NOT associated with celiac disease, may represent a distinct entity
- EATL in situ: refractory celiac disease with intraepithelial lymphocytes showing immunophenotypic and genetic features similar to EATL
- Recent studies evaluating the risk of lymphoma in patients with celiac disease: Table
Sites
- Typically affects jejunum or ileum (ulcers with possible perforation)
- May occur in duodenum, stomach, colon or outside the GI tract, but rare
Clinical features
- Childhood onset celiac disease in a minority of patients
- Adult onset celiac disease or celiac disease diagnosed simultaneously with lymphoma in most patients
- Abdominal pain, often intestinal perforation, sometimes prodrome of refractory celiac disease accompanied by ulceration (ulcerative jejunitis - UJ)
Prognostic factors
Treatment and Prognosis:
- Usually poor for both forms, with recurrences most frequently in the small intestine and death from abdominal complications superimposed on uncontrolled malabsorption
- Proposed management to avoid perforation (Case Rep Oncol 2009;2:36)
Case reports
- 23 year old woman presenting with acute renal failure (World J Gastroenterol 2006;12:2301)
- 36 year old man with NK-like T cell lymphoma involving ileum but without celiac disease (Arch Pathol Lab Med 2003;127:e142)
- 37 year old man with enteropathy but no celiac disease (Hum Pathol 2004;35:639)
- 47 year old man with tumor developing after intestinal diffuse large B cell lymphoma (Am J Surg Pathol 2007;31:476)
Postulated normal counterpart
- Intraepithelial T cells of the intestine
Gross description
- Multiple ulcerated mucosal masses, also single / multiple ulcers or large exophytic mass
Gross images
Microscopic (histologic) description
- Variably sized cells with abundant intraepithelial T cells, often infiltrating the individual crypt epithelium; villous atrophy due to celiac disease may be present
- Most commonly: relatively monotonous medium to large cells with round / angulated vesicular nuclei, prominent nucleoli and moderate / abundant pale cytoplasm
- Less commonly: marked pleomorphism with multinucleated cells similar to anaplastic large cell lymphoma
- Infiltration by inflammatory cells with numerous histiocytes and eosinophils, sometimes obscuring the lymphoma
- Enteropathy in the adjacent mucosa: villous atrophy, crypt hyperplasia, lamina propria lymphoplasmacytic infiltrate, intraepithelial lymphocytosis
- Monomorphic variant (type II EATL): medium sized, round, dark nuclei, rim of pale cytoplasm, florid crypt intraepithelial infiltration, prominent intraepithelial lymphocytosis in the adjacent mucosa, no inflammatory background, less necrosis
Positive stains
Negative stains
- CD4, CD5, CD56
Molecular / cytogenetics description
- Clonal rearrangement of TRB@ and TRG@ genes
- HLADQA1*0501, DQB1*0201 genotype (celiac disease)
- Complex segmental amplifications of the 9q31.3-qter region or del16q12.1 (58% - 70% of cases, both forms)
- Classical form: +1q, +5q
- Monomorphic form: 8q24 (MYC) amplifications
- TCR gene rearrangements studies for EATL (Fig.2) and UJ (Fig.3) (Am J Pathol 1997;151:493)
Differential diagnosis
- B cell lymphoma, histiocytic neoplasms, anaplastic carcinoma, melanoma
Additional references