Genetic and phenotypic characterization of indolent T-cell lymphoproliferative disorders of the gastrointestinal tract

摘要

Ten patients (male:female = 8:2) with ITLPD of the GI tract were identified at the contributing centers (cases 1, 2, and 4 were reported previously).11 The clinical features are summarized in Table 1. The median age at diagnosis was 45 years (range, 37-64 years). The ethnicity of eight patients for whom this information was available was: White (n=5), Hispanic (n=2), and Asian (n=1). The most common signs and symptoms were diarrhea (70%), weight loss (60%), and abdominal pain (50%), with durations ranging from 2 to 16 years prior to diagnosis. Two patients lacked GI symptoms, with disease detected incidentally during routine colonoscopy and workup for inguinal lymphadenopathy. One patient had peptic ulcer disease, H. pylori infection and was serologically positive for hepatitis B and C viruses (case 9) and one patient (case 10) had a history of Crohn disease. Eight patients had been previously misdiagnosed as having celiac disease, seronegative and refractory to a gluten-free diet, and/or other types of lymphomas. The endoscopic findings included mucosal nodularity (70%), scalloping (40%), erythema (40%), decreased duodenal folds (30%), and polyps (20%). Common radiographic findings included abdominal lymphadenopathy (55%), bowel wall thickening (33%), and dilated bowel loops (33%). Biopsy-proven sites of disease included the small intestine (90%), colon (60%), stomach (40%), bone marrow (30%, one case only had cytogenetic evidence of disease), and inguinal lymph nodes (20%). Seven of nine (77%) patients received therapeutic interventions consisting of steroids and/or chemotherapy; two were monitored expectantly. Six of nine (66%) patients are alive with persistent disease and three (33%) have died; one (case 5) due to septicemia and multiorgan failure following chemotherapy-induced intestinal perforation 1 year after diagnosis and two (cases 4 and 9) due to disease transformation 11 and 27 years after diagnosis.