{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T08:28:31Z","timestamp":1775032111084,"version":"3.50.1"},"reference-count":39,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004564","name":"Ministarstvo Prosvete, Nauke i Tehnolo\u0161kog Razvoja","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004564","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Immunol."],"abstract":"<jats:p>\n                    The coexistence of Beh\u00e7et\u2019s syndrome (BS) and myelodysplastic neoplasm (MDS) is increasingly recognized and is often referred to as MDS with BS-like features. These patients demonstrate a distinctive profile characterized by a high prevalence of trisomy 8 and limited response to conventional immunosuppressive therapy. However, the mutational profile of this rare entity remains almost entirely unexplored. Here, we report a 36-year-old female presenting with painful oral and genital ulcers who is subsequently diagnosed with an atypical form of BS. Nonetheless, whole-exome sequencing identified monoallelic\n                    <jats:italic>TP53<\/jats:italic>\n                    and\n                    <jats:italic>SF3B1<\/jats:italic>\n                    mutations, findings highly indicative of MDS. After confirmation of diagnosis and prognostic assessment, the patient ultimately underwent successful allogeneic stem cell transplantation. This case highlights the importance of comprehensive genomic profiling in diagnosing, risk-stratifying, and managing patients with rare hematological entities presenting with autoinflammatory phenomena.\n                  <\/jats:p>","DOI":"10.3389\/fimmu.2026.1803414","type":"journal-article","created":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T05:39:31Z","timestamp":1775021971000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Beh\u00e7et\u2019s syndrome-like features revealing myelodysplastic syndrome with TP53 mutation: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Andrej","family":"Pesic","sequence":"first","affiliation":[{"name":"Clinic of Hematology, University Clinical Center of Serbia","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jelena","family":"Ljubicic","sequence":"additional","affiliation":[{"name":"Clinic of Allergy and Immunology, University Clinical Center of Serbia","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Milena","family":"Todorovic Balint","sequence":"additional","affiliation":[{"name":"Clinic of Hematology, University Clinical Center of Serbia","place":["Belgrade, Serbia"]},{"name":"Faculty of Medicine, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kristel","family":"Klaassen","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetical Engineering, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marina","family":"Andjelkovic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetical Engineering, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonja","family":"Pavlovic","sequence":"additional","affiliation":[{"name":"Institute of Molecular Genetics and Genetical Engineering, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maja","family":"Stojanovic","sequence":"additional","affiliation":[{"name":"Clinic of Allergy and Immunology, University Clinical Center of Serbia","place":["Belgrade, Serbia"]},{"name":"Faculty of Medicine, University of Belgrade","place":["Belgrade, Serbia"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,4,1]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(23)02629-6","article-title":"Beh\u00e7et\u2019s syndrome","volume":"403","author":"Emmi","year":"2024","journal-title":"Lancet"},{"key":"B2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(13)61901-7","article-title":"Myelodysplastic syndromes","volume":"383","author":"Ad\u00e8s","year":"2014","journal-title":"Lancet"},{"key":"B3","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/ker137","article-title":"A case of Beh\u00e7et\u2019s disease associated with myelodysplastic syndrome involving trisomy 8 and a gain-of-function mutation in SHP-2","volume":"50","author":"Shigemura","year":"2011","journal-title":"Rheumatology"},{"key":"B4","article-title":"A reappraisal of the association between Beh\u00e7et\u2019s disease, myelodysplastic syndrome and the presence of trisomy 8: a systematic literature review","volume":"33","author":"Esatoglu","year":"2015","journal-title":"Clin Exp Rheumatol"},{"key":"B5","doi-asserted-by":"publisher","DOI":"10.1016\/j.lrr.2021.100278","article-title":"Successful allogeneic bone marrow transplantation after massive gastrointestinal bleeding in a patient with myelodysplastic syndrome associated with intestinal Beh\u00e7et-like disease","volume":"16","author":"Ishii","year":"2021","journal-title":"Leuk Res Rep"},{"key":"B6","doi-asserted-by":"publisher","DOI":"10.1007\/s00277-020-03951-5","article-title":"How to treat myelodysplastic syndrome with clinical features resembling Beh\u00e7et syndrome: a case-based systematic review","volume":"99","author":"Yilmaz","year":"2020","journal-title":"Ann Hematol"},{"key":"B7","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bmt.1704892","article-title":"Autoimmune Diseases Working Party of the European Group for Blood and Marrow Transplantation (EBMT). Autologous hematopoietic stem cell transplantation for autoimmune diseases","volume":"35","author":"Gratwohl","year":"2005","journal-title":"Bone Marrow Transplant"},{"key":"B8","doi-asserted-by":"publisher","DOI":"10.3349\/ymj.2023.0321","article-title":"Optimal treatment approaches to intestinal beh\u00e7et\u2019s disease complicated by myelodysplastic syndrome: the KASID and KSBD multicenter study","volume":"65","author":"Park","year":"2024","journal-title":"Yonsei Med J"},{"key":"B9","doi-asserted-by":"publisher","DOI":"10.1056\/evidoa2200008","article-title":"Molecular international prognostic scoring system for myelodysplastic syndromes","volume":"1","author":"Bernard","year":"2022","journal-title":"NEJM Evidence"},{"key":"B10","doi-asserted-by":"publisher","DOI":"10.1158\/2159-8290.CD-22-0332","article-title":"TP53-mutated myelodysplastic syndrome and acute myeloid leukemia: biology, current therapy, and future 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