Refractoriness of Intestinal Behçet's Disease with Myelodysplastic Syndrome Involving Trisomy 8 to Medical Therapies - Our Case Experience and Review of the Literature

Abstract

Background/Aims: Gastrointestinal lesions of Behçet's disease (BD) are often refractory to medical therapy and sometimes result in serious comorbidities such as gastrointestinal perforation and massive bleeding. There are several reports of patients with BD comorbid with myelodysplastic syndrome (MDS) involving trisomy 8 that frequently have intestinal lesions refractory to conventional medical therapy. Little is known about the efficacy of infliximab (IFX) for these intestinal lesions. Methods: We present 2 cases of intestinal BD with MDS involving trisomy 8 who did not respond to IFX, and review previous reports of BD with MDS involving trisomy 8 concerning their responsiveness to conventional medical therapy. Results: Among 31 previously reported cases that received medical treatment for BD, 19 (61.3%) showed temporary improvement of the BD symptoms, 9 (29.0%) deteriorated, and 3 (9.7%) showed no change. All of the 9 cases that showed deterioration had intestinal lesions. Our 2 cases failed to respond to IFX, resulting in a poor prognosis. Conclusions: IFX might not be effective for improving intestinal BD comorbid with MDS involving trisomy 8. Trisomy 8 is associated with the BD prognosis and refractoriness to conventional medical therapy.

Successful Treatment of Behçet's Disease Associated with Acute Myeloid Leukemia with Myelodysplasia-related Changes Using Azacitidine and Tacrolimus before Allogeneic Hematopoietic Stem Cell Transplantation

“…However, his intestinal BD worsened during induction chemotherapy. Overproduction of inflammatory cytokines and abnormal neutrophil function are thought to be involved in the etiology of BD (2,3). Intensive chemotherapy or an intestinal infection can damage the recipient's tissues, thereby inducing production of inflammatory cytokines (11), which can cause BD recurrence (2).…”

“…Recently, there have been several case reports of BD associated with myelodysplastic syndrome (MDS). The majority of patients with MDS who presented with symptoms of BD had trisomy 8, and most had intestinal manifestations (1-3). Intestinal BD is usually refractory to treatment and results in life-threatening comorbidities.…”

“…Intestinal BD is usually refractory to treatment and results in life-threatening comorbidities. Therefore, the majority of patients with BD and MDS involving trisomy 8 fail to respond to conventional treatment and have a poor prognosis (1,3). The optimum treatment of BD associated with MDS has not been established.…”

Recurrent Abnormal Clones in Myelodysplastic Syndrome Marrow Originate from Cells at a Pluripotent Stem Level and Maintain Their Early Differentiation Potency

“…In addition, some patients gained the trisomy of chromosome 8 during progression to leukemia (20) and in most patients, +8 was associated with the occurrence of immune enhancement or autoimmune disease (21,22). Therefore, +8 was believed to be a subsequent event to 5q− and autologous stem cell transplantation was even proposed as a radical treatment because the clonal cells in these patients were thought to have originated at a later stage (3).…”

The burden of autoimmunity in myelodysplastic syndromes

“…This condition is usually described in patients showing a specific genetic pattern such as trisomy 8 but can be also observed in subjects with different chromosomal or molecular lesions . Some studies specifically focused on the treatment outcome, showing a general refractoriness of the BD in MDS patients, while more recently a possible efficacy of the anti‐Tumor Necrosis Factor (TNF) antibody adalimumab was suggested . Interestingly, the characteristics of this disorder in the MDS population were comprehensively evaluated in a cohort of Japanese patients.…”