T- and NK-cell lymphoproliferative disorders of the gastrointestinal tract: review and update

Pathology - Tập 52 - Trang 128-141 - 2020
Chris van Vliet1, Dominic V. Spagnolo1,2
1Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia
2University of Western Australia, School of Pathology and Laboratory Medicine, Nedlands, WA, Australia

Tài liệu tham khảo

Chan, 2019, Haematolymphoid tumours of the digestive system, Vol 1 Jaffe, 2017, Intestinal T-cell lymphoma Swinson, 1983, Coeliac disease and malignancy, Lancet, 1, 111, 10.1016/S0140-6736(83)91754-3 Green, 2007, Celiac disease, N Engl J Med, 357, 1731, 10.1056/NEJMra071600 Malamut, 2013, Enteropathy associated T cell lymphoma in celiac disease: a large retrospective study, Dig Liver Dis, 45, 377, 10.1016/j.dld.2012.12.001 Chander, 2018, Pathogenesis of enteropathy-associated T-cell lymphoma, Curr Hematol Malig Rep, 13, 308, 10.1007/s11899-018-0459-5 Delabie, 2011, Enteropathy-associated T-cell lymphoma: clinical and histological findings from the international peripheral T-cell lymphoma project, Blood, 118, 148, 10.1182/blood-2011-02-335216 Daum, 2003, Intestinal non-Hodgkin's lymphoma: a multicenter prospective clinical study from the German Study Group on Intestinal non-Hodgkin's Lymphoma, J Clin Oncol, 21, 2740, 10.1200/JCO.2003.06.026 Gale, 2000, Enteropathy-type intestinal T-cell lymphoma: clinical features and treatment of 31 patients in a single center, J Clin Oncol, 18, 795, 10.1200/JCO.2000.18.4.795 Sieniawski, 2010, Evaluation of enteropathy-associated T-cell lymphoma comparing standard therapies with a novel regimen including autologous stem cell transplantation, Blood, 115, 3664, 10.1182/blood-2009-07-231324 Biagi, 2010, Mortality in celiac disease, Nat Rev Gastroenterol Hepatol, 7, 158, 10.1038/nrgastro.2010.2 Al-Toma, 2006, Human leukocyte antigen-DQ2 homozygosity and the development of refractory celiac disease and enteropathy-associated T-cell lymphoma, Clin Gastroenterol Hepatol, 4, 315, 10.1016/j.cgh.2005.12.011 Di Sabatino, 2012, How I treat enteropathy-associated T-cell lymphoma, Blood, 119, 2458, 10.1182/blood-2011-10-385559 Al-Toma, 2007, Survival in refractory coeliac disease and enteropathy-associated T-cell lymphoma: retrospective evaluation of single-centre experience, Gut, 56, 1373, 10.1136/gut.2006.114512 Malamut, 2009, Presentation and long-term follow-up of refractory celiac disease: comparison of type I with type II, Gastroenterology, 136, 81, 10.1053/j.gastro.2008.09.069 Rubio-Tapia, 2010, Classification and management of refractory coeliac disease, Gut, 59, 547, 10.1136/gut.2009.195131 van Gils, 2015, Mechanisms and management of refractory coeliac disease, Nat Rev Gastroenterol Hepatol, 12, 572, 10.1038/nrgastro.2015.155 Smedby, 2005, Malignant lymphomas in coeliac disease: evidence of increased risks for lymphoma types other than enteropathy-type T cell lymphoma, Gut, 54, 54, 10.1136/gut.2003.032094 Amiot, 2012, High frequency of fatal haemophagocytic lymphohistiocytosis syndrome in enteropathy-associated T cell lymphoma, Dig Liver Dis, 44, 343, 10.1016/j.dld.2011.10.008 Isaacson, 2005, Gastrointestinal lymphoma: where morphology meets molecular biology, J Pathol, 205, 255, 10.1002/path.1703 Isaacson, 2017, Enteropathy-associated T-cell lymphoma and other primary intestinal T-cell lymphomas Schwock, 2015, Enteropathy-associated intestinal T-cell lymphoma in cavitating mesenteric lymph node syndrome: fine-needle aspiration contributes to the diagnosis, Diagn Cytopathol, 43, 125, 10.1002/dc.23144 Matuchansky, 1984, Cavitation of mesenteric lymph nodes, splenic atrophy, and a flat small intestinal mucosa. Report of six cases, Gastroenterology, 87, 606, 10.1016/0016-5085(84)90533-X Holmes, 1986, Mesenteric lymph node cavitation in coeliac disease, Gut, 27, 728, 10.1136/gut.27.6.728 Howat, 1995, Cavitation of mesenteric lymph nodes: a rare complication of coeliac disease, associated with a poor outcome, Histopathology, 27, 349, 10.1111/j.1365-2559.1995.tb01525.x Chott, 1998, Most CD56+ intestinal lymphomas are CD8+CD5-T-cell lymphomas of monomorphic small to medium size histology, Am J Pathol, 153, 1483, 10.1016/S0002-9440(10)65736-7 Murray, 1995, Study of the immunohistochemistry and T cell clonality of enteropathy-associated T cell lymphoma, Am J Pathol, 146, 509 Nicolae, 2016, Mutations in the JAK/STAT and RAS signaling pathways are common in intestinal T-cell lymphomas, Leukemia, 30, 2245, 10.1038/leu.2016.178 Attygalle, 2014, Peripheral T-cell and NK-cell lymphomas and their mimics; taking a step forward – report on the lymphoma workshop of the XVIth meeting of the European Association for Haematopathology and the Society for Hematopathology, Histopathology, 64, 171, 10.1111/his.12251 Hussein, 2018, Clonal T cell receptor gene rearrangements in coeliac disease: implications for diagnosing refractory coeliac disease, J Clin Pathol, 71, 825, 10.1136/jclinpath-2018-205023 Daum, 2009, High rates of complications and substantial mortality in both types of refractory sprue, Eur J Gastroenterol Hepatol, 21, 66, 10.1097/MEG.0b013e328307c20c Ilus, 2014, Refractory coeliac disease in a country with a high prevalence of clinically-diagnosed coeliac disease, Aliment Pharmacol Ther, 39, 418, 10.1111/apt.12606 Roshan, 2011, The incidence and clinical spectrum of refractory celiac disease in a North American referral center, Am J Gastroenterol, 106, 923, 10.1038/ajg.2011.104 Rubio-Tapia, 2009, Clinical staging and survival in refractory celiac disease: a single center experience, Gastroenterology, 136, 99, 10.1053/j.gastro.2008.10.013 Cellier, 1998, Abnormal intestinal intraepithelial lymphocytes in refractory sprue, Gastroenterology, 114, 471, 10.1016/S0016-5085(98)70530-X Farstad, 2002, Heterogeneity of intraepithelial lymphocytes in refractory sprue: potential implications of CD30 expression, Gut, 51, 372, 10.1136/gut.51.3.372 Verbeek, 2008, Flow cytometric determination of aberrant intra-epithelial lymphocytes predicts T-cell lymphoma development more accurately than T-cell clonality analysis in refractory celiac disease, Clin Immunol, 126, 48, 10.1016/j.clim.2007.09.002 Verbeek, 2009, Aberrant T-lymphocytes in refractory coeliac disease are not strictly confined to a small intestinal intraepithelial localization, Cytometry B Clin Cytom, 76, 367, 10.1002/cyto.b.20481 van Wanrooij, 2014, Optimal strategies to identify aberrant intra-epithelial lymphocytes in refractory coeliac disease, J Clin Immunol, 34, 828, 10.1007/s10875-014-0075-7 van Wanrooij, 2010, Accurate classification of RCD requires flow cytometry, Gut, 59, 1732, 10.1136/gut.2010.223438 Verkarre, 2003, Refractory coeliac sprue is a diffuse gastrointestinal disease, Gut, 52, 205, 10.1136/gut.52.2.205 Cellier, 2000, Refractory sprue, coeliac disease, and enteropathy-associated T-cell lymphoma. French Coeliac Disease Study Group, Lancet, 356, 203, 10.1016/S0140-6736(00)02481-8 Carbonnel, 1998, Are complicated forms of celiac disease cryptic T-cell lymphomas?, Blood, 92, 3879, 10.1182/blood.V92.10.3879 Bagdi, 1999, Mucosal intra-epithelial lymphocytes in enteropathy-associated T-cell lymphoma, ulcerative jejunitis, and refractory celiac disease constitute a neoplastic population, Blood, 94, 260, 10.1182/blood.V94.1.260.413k40_260_264 Ashton-Key, 1997, Molecular analysis of T-cell clonality in ulcerative jejunitis and enteropathy-associated T-cell lymphoma, Am J Pathol, 151, 493 Zettl, 2002, Chromosomal gains at 9q characterize enteropathy-type T-cell lymphoma, Am J Pathol, 161, 1635, 10.1016/S0002-9440(10)64441-0 Zettl, 2007, Enteropathy-type T-cell lymphoma, Am J Clin Pathol, 127, 701, 10.1309/NW2BK1DXB0EQG55H Deleeuw, 2007, Whole-genome analysis and HLA genotyping of enteropathy-type T-cell lymphoma reveals 2 distinct lymphoma subtypes, Gastroenterology, 132, 1902, 10.1053/j.gastro.2007.03.036 Moffitt, 2017, Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2, J Exp Med, 214, 1371, 10.1084/jem.20160894 Egan, 1995, Celiac-associated lymphoma. A single institution experience of 30 cases in the combination chemotherapy era, J Clin Gastroenterol, 21, 123, 10.1097/00004836-199509000-00012 de Baaij, 2015, A new and validated clinical prognostic model (EPI) for enteropathy-associated T-cell lymphoma, Clin Cancer Res, 21, 3013, 10.1158/1078-0432.CCR-14-2195 Swerdlow, 2014, International Lymphoma Study Group. Cytotoxic T-cell and NK-cell lymphomas: current questions and controversies, Am J Surg Pathol, 38, 60, 10.1097/PAS.0000000000000295 Chan, 2011, Type II enteropathy-associated T-cell lymphoma: a distinct aggressive lymphoma with frequent γδ T-cell receptor expression, Am J Surg Pathol, 35, 1557, 10.1097/PAS.0b013e318222dfcd Ko, 2010, Enteropathy-associated T-cell lymphoma—a clinicopathologic and array comparative genomic hybridization study, Hum Pathol, 41, 1231, 10.1016/j.humpath.2009.11.020 Tse, 2012, Type II enteropathy-associated T-cell lymphoma: a multicenter analysis from the Asia lymphoma study group, Am J Hematol, 87, 663, 10.1002/ajh.23213 Tan, 2013, Type II EATL (epitheliotropic intestinal T-cell lymphoma): a neoplasm of intra-epithelial T-cells with predominant CD8αα phenotype, Leukemia, 27, 1688, 10.1038/leu.2013.41 Tomita, 2015, Genomic and immunohistochemical profiles of enteropathy-associated T-cell lymphoma in Japan, Mod Pathol, 28, 1286, 10.1038/modpathol.2015.85 Kikuma, 2014, Detailed clinicopathological characteristics and possible lymphomagenesis of type II intestinal enteropathy-associated T-cell lymphoma in Japan, Hum Pathol, 45, 1276, 10.1016/j.humpath.2013.10.038 Mutzbauer, 2018, SYK expression in monomorphic epitheliotropic intestinal T-cell lymphoma, Mod Pathol, 31, 505, 10.1038/modpathol.2017.145 Tan, 2011, Nuclear expression of MATK is a novel marker of type II enteropathy-associated T-cell lymphoma, Leukemia, 25, 555, 10.1038/leu.2010.295 Roberti, 2016, Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations, Nat Commun, 7, 12602, 10.1038/ncomms12602 Wang, 1995, Consistent presence of isochromosome 7q in hepatosplenic T gamma/delta lymphoma: a new cytogenetic-clinicopathologic entity, Genes Chromosomes Cancer, 12, 161, 10.1002/gcc.2870120302 McKinney, 2017, The genetic basis of hepatosplenic T-cell lymphoma, Cancer Discov, 7, 369, 10.1158/2159-8290.CD-16-0330 Nairismägi, 2016, JAK-STAT and G-protein-coupled receptor signaling pathways are frequently altered in epitheliotropic intestinal T-cell lymphoma, Leukemia, 30, 1311, 10.1038/leu.2016.13 Carbonnel, 1994, Extensive small intestinal T-cell lymphoma of low-grade malignancy associated with a new chromosomal translocation, Cancer, 73, 1286, 10.1002/1097-0142(19940215)73:4<1286::AID-CNCR2820730425>3.0.CO;2-9 Egawa, 1995, Relapsing oral and colonic ulcers with monoclonal T-cell infiltration. A low grade mucosal T-lymphoproliferative disease of the digestive tract, Cancer, 75, 1728, 10.1002/1097-0142(19950401)75:7<1728::AID-CNCR2820750727>3.0.CO;2-9 Tsutsumi, 1996, T-cell lymphomas diffusely involving the intestine: report of two rare cases, Jpn J Clin Oncol, 26, 264, 10.1093/oxfordjournals.jjco.a023226 Hirakawa, 1996, Primary gastrointestinal T-cell lymphoma resembling multiple lymphomatous polyposis, Gastroenterology, 111, 778, 10.1053/gast.1996.v111.pm8780585 Carbonnel, 1999, The clinicopathological features of extensive small intestinal CD4 T cell infiltration, Gut, 45, 662, 10.1136/gut.45.5.662 Ranheim, 2000, Spontaneously relapsing clonal, mucosal cytotoxic T-cell lymphoproliferative disorder: case report and review of the literature, Am J Surg Pathol, 24, 296, 10.1097/00000478-200002000-00017 Isomoto, 2004, Multiple lymphomatous polyposis of the colon originating from T-cells: a case report, Dig Liver Dis, 36, 218, 10.1016/j.dld.2003.09.019 Zivny, 2004, CD4+ T-cell lymphoproliferative disorder of the gut clinically mimicking celiac sprue, Dig Dis Sci, 49, 551, 10.1023/B:DDAS.0000026297.25591.62 Svrcek, 2007, Small intestinal CD4+ T-cell lymphoma: a rare distinctive clinicopathological entity associated with prolonged survival, Virchows Arch, 451, 1091, 10.1007/s00428-007-0475-7 Margolskee, 2013, Indolent small intestinal CD4+ T-cell lymphoma is a distinct entity with unique biologic and clinical features, PLoS One, 8, 10.1371/journal.pone.0068343 Perry, 2013, Indolent T-cell lymphoproliferative disease of the gastrointestinal tract, Blood, 122, 3599, 10.1182/blood-2013-07-512830 Leventaki, 2014, Indolent peripheral T-cell lymphoma involving the gastrointestinal tract, Hum Pathol, 45, 421, 10.1016/j.humpath.2013.08.003 Malamut, 2014, Small intestinal CD4+ T-cell lymphoma is a heterogenous entity with common pathology features, Clin Gastroenterol Hepatol, 12, 599, 10.1016/j.cgh.2013.11.028 Sena Teixeira Mendes, 2014, CD4-positive small T-cell lymphoma of the intestine presenting with severe bile-acid malabsorption: a supportive symptom control approach, Br J Haematol, 167, 265, 10.1111/bjh.12953 Sharma, 2018, Recurrent STAT3-JAK2 fusions in indolent T-cell lymphoproliferative disorder of the gastrointestinal tract, Blood, 131, 2262, 10.1182/blood-2018-01-830968 Perry, 2019, Disease progression in a patient with indolent T-cell lymphoproliferative disease of the gastrointestinal tract, Int J Surg Pathol, 27, 102, 10.1177/1066896918785985 Sun, 2011, Primary intestinal T-cell and NK-cell lymphomas: a clinicopathological and molecular study from China focused on type II enteropathy-associated T-cell lymphoma and primary intestinal NK-cell lymphoma, Mod Pathol, 24, 983, 10.1038/modpathol.2011.45 Kawamoto, 2009, Clinicopathological characteristics of primary gastric T-cell lymphoma, Histopathology, 55, 641, 10.1111/j.1365-2559.2009.03430.x Park, 2014, Peripheral T cell lymphoma in Asia, Int J Hematol, 99, 227, 10.1007/s12185-014-1520-3 Kim, 2011, Multicenter retrospective analysis of 581 patients with primary intestinal non-hodgkin lymphoma from the Consortium for Improving Survival of Lymphoma (CISL), BMC Cancer, 11, 321, 10.1186/1471-2407-11-321 Holanda, 2008, Primary gastric T cell lymphoma mimicking marginal zone B cell lymphoma of mucosa-associated lymphoid tissue, J Hematop, 1, 29 Vega, 2006, Atypical NK-cell proliferation of the gastrointestinal tract in a patient with antigliadin antibodies but not celiac disease, Am J Surg Pathol, 30, 539, 10.1097/00000478-200604000-00017 Mansoor, 2011, NK-cell enteropathy: a benign NK-cell lymphoproliferative disease mimicking intestinal lymphoma: clinicopathologic features and follow-up in a unique case series, Blood, 117, 1447, 10.1182/blood-2010-08-302737 Xia, 2019, NK-cell enteropathy and similar indolent lymphoproliferative disorders: a case series with literature review, Am J Clin Pathol, 151, 75 Xiao, 2019, Recurrent somatic JAK3 mutations in NK-cell enteropathy, Blood, 134, 986, 10.1182/blood.2019001443 Takeuchi, 2010, Lymphomatoid gastropathy: a distinct clinicopathologic entity of self-limited pseudomalignant NK-cell proliferation, Blood, 116, 5631, 10.1182/blood-2010-06-290650 Takata, 2015, Clinicopathologic analysis of 6 lymphomatoid gastropathy cases: expanding the disease spectrum to CD4-CD8+ cases, Am J Surg Pathol, 39, 1259, 10.1097/PAS.0000000000000443 Yamamoto, 2011, A case of benign natural killer cell proliferative disorder of the stomach (gastric manifestation of natural killer cell lymphomatoid gastroenteropathy) mimicking extranodal natural killer/T-cell lymphoma, Leuk Lymphoma, 52, 1803, 10.3109/10428194.2011.573030 Tanaka, 2011, A case of lymphomatoid gastropathy: an indolent CD56-positive atypical gastric lymphoid proliferation, mimicking aggressive NK/T cell lymphomas, Pathol Res Pract, 207, 786, 10.1016/j.prp.2011.09.012 Terai, 2012, Lymphomatoid gastropathy mimicking extranodal NK/T cell lymphoma, nasal type: a case report, World J Gastroenterol, 18, 2140, 10.3748/wjg.v18.i17.2140 Ishibashi, 2013, A case of lymphomatoid gastropathy: a self-limited pseudomalignant natural killer (NK)-cell proliferative disease mimicking NK/T-cell lymphomas, Clin J Gastroenterol, 6, 287, 10.1007/s12328-013-0397-7 Koh, 2014, Benign indolent CD56-positive NK-cell lymphoproliferative lesion involving gastrointestinal tract in an adolescent, Korean J Pathol, 48, 73, 10.4132/KoreanJPathol.2014.48.1.73 Hwang, 2016, Indolent NK cell proliferative lesion mimicking NK/T cell lymphoma in the gallbladder, Hum Pathol Case Rep, 5, 39, 10.1016/j.ehpc.2016.01.004 Wang, 2019, NK-cell enteropathy, a potential diagnostic pitfall of intestinal lymphoproliferative disease, Pathology, 51, 338, 10.1016/j.pathol.2018.09.064