J Rheum Dis 2021; 28(2): 107-109  
Trisomy 8 Associated Behçet’s Like Disease
SangMin Lee, M.D., Won Ho Choi, M.D., Jong-Sun Kim, M.D., Kyung-Ann Lee, M.D., Ph.D., Seong Ran Jeon, M.D., Ph.D., Hyun-Sook Kim, M.D., Ph.D.
Correspondence to: Hyun-Sook Kim http://orcid.org/0000-0001-9213-7140
Division of Rheumatology, Department of Internal Medicine, Soonchunhyang University Seoul Hospital, 59 Daesagwan-ro, Yongsan-gu, Seoul 04401, Korea. E-mail:healthyra@schmc.ac.kr
Received: August 9, 2020; Revised: September 18, 2020; Accepted: September 23, 2020; Published online: April 1, 2021.
© Korean College of Rheumatology. All rights reserved.

This is a open Access article, which permits unrestricted non-commerical use, distribution, and reproduction in any medium, provided the original work is properly cited.
Body

Behçet’s disease (BD) is an autoinflammatory disease of unknown etiology presenting by recurrent oral aphthous and genital ulcers, uveitis, and gastrointestinal lesions. The disease is characterized by a neutrophil dysfunction and overexpression of inflammatory cytokines triggered by exogenous factors in genetically susceptible individuals. The association of Behçet’s like disease with hematologic disorders is rarely reported. The prevalence of hematologic malignancy ranges from 0.4% to 4% in a single-center cohort from Korea and China [1,2].

A 29-year-old male presented with a 3-year history of intermittent fever, abdominal pain, and perianal swelling. Laboratory tests showed a hemoglobin level of 8.6 g/dL, platelet count of 3.3×109/L, white blood cell count of 1.7×109/L, and neutrophil count of 850/μL. Computed tomography showed enhancing wall thickening with ulceration in the ileocecum and terminal ileum (Figure 1A). Endoscopy revealed few oval-shaped deep ulcers with well-demarcation in the ileocecal valve (Figure 1B) and perianal abscesses (Figure 2). Bone marrow biopsy revealed <5% cellularity, which is compatible with hypoplastic myelodysplastic syndrome (MDS)-EB-2. Chromosomal analysis showed 47 XY with trisomy 8 (Figure 3). The prevalence of trisomy 8 is reported to be 7%∼9% among patients with MDS. The presence of trisomy 8 may play an important role in the upregulation of immunologic inflammatory genes, including transforming growth factor-β, interferon-β2, and receptors for interleukin-6 and -7. Recent studies have described the presence of various gastrointestinal manifestations with Behçet’s-like disease in patients with MDS and trisomy 8 [3]. Administr-ation of immunosuppressive agents is mostly not sufficient to control Bechet’s like disease symptoms in MDS [4]. Although our patient showed temporary improvement of intestinal ulcer and perianal abscesses with infliximab, the lesions worsened after several months. Treatment of the underlying hematologic condition should be considered [5]. We considered autologous hematopoietic stem cell transplantation for the treatment of refractory Behçet’s-like disease with MDS. In patients presenting with Behçet’s-like disease features and hematologic abnormalities, the possibility of chromosomal disorders such as trisomy 8 should be considered. Written informed consent was obtained from the patient who participated in this study.

Figure 1. (A) Computed tomography finding showed layered enhancing wall thickening with perilesional fat infilteration and ulceration in terminal ileum. (B) Colonoscopic finding revealed large well defined deep oval ulcers in ileocecal valve.

Figure 2. Perianal fistula was observed and seton tube drainage was performed.

Figure 3. Karyotyping of this patient revealed trisomy 8 (arrow).
ACKNOWLEDGMENTS

This study was supported by the Soonchunhyang University.

CONFLICT OF INTEREST

No potential conflict of interest relevant to this article was reported.

AUTHOR CONTRIBUTIONS

Conceptualization: S.M.L., H.S.K. Data curation: W.H.C., K.A.L., S.R.J. Writing-original draft: S.M.L., J.S.K. Writing- review & editing: K.A.L., H.S.K.

References
  1. Lin Y, Li G, Zheng W, Tian X, Zhang F. Behcet's disease associated with malignancy: a report of 41 Chinese cases. Int J Rheum Dis 2014;17:459-65.
    Pubmed CrossRef
  2. Ahn JK, Cha HS, Koh EM, Kim SH, Kim YG, Lee CK, et al. Behcet's disease associated with bone marrow failure in Korean patients: clinical characteristics and the association of intestinal ulceration and trisomy 8. Rheumatology (Oxford) 2008;47:1228-30.
    Pubmed CrossRef
  3. Wesner N, Drevon L, Guedon A, Fraison JB, Trad S, Kahn JE, et al. Inflammatory disorders associated with trisomy 8-myelodysplastic syndromes: French retrospective case-control study. Eur J Haematol 2019;102:63-9.
    Pubmed CrossRef
  4. Toyonaga T, Nakase H, Matsuura M, Minami N, Yamada S, Honzawa Y, et al. Refractoriness of intestinal Behçet's disease with myelodysplastic syndrome involving trisomy 8 to medical therapies - our case experience and review of the literature. Digestion 2013;88:217-21.
    Pubmed CrossRef
  5. Asano T, Sato S, Furuya MY, Takahashi H, Shichishima-Nakamura A, Ohkawara H, et al. Intestinal Behçet disease associated with myelodysplastic syndrome accompanying trisomy 8 successfully treated with abdominal surgery followed by hematopoietic stem cell transplantation: a case report. Medicine (Baltimore) 2019;98:e17979.
    Pubmed KoreaMed CrossRef


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