Myelodysplastic Syndrome With Trisomy 8 and Behçet Disease‐Like Intestinal and Upper Gastrointestinal Involvement

ABSTRACT

We found an extremely rare case of upper gastrointestinal involvement in trisomy 8‐positive myelodysplastic syndrome. This is the first reported case of trisomy 8‐positive myelodysplastic syndrome with both upper and lower gastrointestinal involvement, which was successfully treated with bone marrow transplantation.

1. Question

A 50‐year‐old woman was diagnosed with myelodysplastic syndrome (MDS) with trisomy 8, presenting with cytopenia and dysplasia in bone marrow hematopoietic cells. Histopathological analysis of the bone marrow revealed excess blasts and dysplastic changes, such as micromegakaryocytes (red triangles) and pseudo‐Pelger–Huet anomaly (blue triangles) (Figure 1a,e). An increase in p53‐positive and CD34‐positive cells and fibrosis was observed via silver impregnation (Figure 1b–d). According to the World Health Organization 2016, she was classified as having MDS with excess blasts, and the Revised International Prognostic Scoring System score was 7 points (very high‐risk group). Two months later, she experienced abdominal pain, and a computed tomography scan revealed ileocecal region swelling (Figure 2a). Colonoscopy revealed ulcers and erythematous mucosa in the Bauhin's valve and colon, respectively (Figure 2b,c), while histopathological analysis indicated nonspecific inflammatory changes. Esophagogastroduodenoscopy revealed patchy gastric and duodenal erythema (Figure 3a,b). Histopathological examination of these areas showed infiltration of p53‐positive dysplastic cells with pseudo‐Pelger–Huet anomaly (red triangles) (Figure 3c–f). What is this patient's diagnosis, and how would you treat her?

FIGURE 1.

(a–e) Histopathological examination of the bone marrow before allogeneic hematopoietic stem cell transplantation (allo‐HSCT).

FIGURE 2.

(a) Computed tomography scan showing swelling of the ileocecal region. (b–c) Colonoscopy revealing ulcers in the Bauhin's valve and erythematous mucosa in the colon. (d–e) Colonoscopy after allo‐HSCT. allo‐HSCT, allogeneic hematopoietic stem cell transplantation.

FIGURE 3.

(a–b) Esophagogastroduodenoscopy revealing patchy redness in the gastric body and bulb of the duodenum before allo‐HSCT. (c–f) Histopathological examination of these lesions revealing infiltration of p53‐positive dysplastic cells with pseudo‐Pelger–Huet anomaly (red triangles). allo‐HSCT, allogeneic hematopoietic stem cell transplantation.

2. Answer

She was diagnosed with gastrointestinal Behçet‐like disease (BLD) with MDS and trisomy 8. Corticosteroids and azacytidine treatment were ineffective. While BLD is resistant to immunosuppressive therapy and corticosteroids, allogeneic hematopoietic stem cell transplantation (allo‐HSCT) reportedly can control both MDS and BLD in some cases [1]. Therefore, we performed allo‐HSCT. One month post‐bone marrow transplantation, both MDS (Figure 4a–e) and gastrointestinal BLD (Figures 2d,e and 5a–f) achieved remission, as verified endoscopically and pathologically.

FIGURE 4.

(a–e) Histopathological examination of the bone marrow after allo‐HSCT. allo‐HSCT, allogeneic hematopoietic stem cell transplantation.

FIGURE 5.

(a–b) Esophagogastroduodenoscopy showing normal findings in the stomach and duodenum after allo‐HSCT. (c–f) Histopathological examination of these areas. allo‐HSCT, allogeneic hematopoietic stem cell transplantation.

MDS is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis and a risk of progression to acute myeloid leukemia. Allo‐HSCT remains the only curative treatment for MDS. BD‐like symptoms associated with MDS present distinct clinical features from classical BD and are increasingly referred to as BLD in recent years. Although the features of intestinal BD associated with MDS and trisomy 8 remain incompletely summarized, different ulcer characteristics (multiple and superficial ulcers) compared with typical intestinal BD (with single or a few deep ulcers with discrete margins in the ileocecal area) have been reported [2]. In typical intestinal BD, the terminal ileum is the most frequently involved part of the gastrointestinal tract, and features of upper gastrointestinal involvement in BD are not widely recognized. Murakami et al. suggested that the gastric antrum and the second portion of the duodenum are common sites of upper gastrointestinal involvement in BD, and erosions and punched‐out ulcers are found in those areas [3]. However, in our case, patchy redness was found in the gastric body and bulb of the duodenum.

Our case represents an extremely rare instance of upper gastrointestinal involvement in trisomy 8‐positive MDS. This is the first reported case of trisomy 8‐positive MDS with both upper and lower gastrointestinal involvement that was successfully treated with bone marrow transplantation. In clinical practice, it should be noted that patients with trisomy 8‐positive MDS may develop both upper and lower gastrointestinal lesions.

Author Contributions

Yuzo Kawata: data curation, writing – original draft. Kentaro Tominaga: data curation, writing – review and editing. Yusuke Kaneko: data curation, formal analysis. Saori Takashima: data curation, formal analysis. Yusuke Tani: data curation, formal analysis. Yuichi Kojima: data curation, formal analysis. Kazuya Takahashi: data curation, formal analysis. Shuji Terai: supervision, writing – review and editing.

Disclosure

The authors have nothing to report.

Consent

Written informed consent was obtained from the patient to publish this report in accordance with the journal's patient consent policy.

Kawata Y., Tominaga K., Kaneko Y., et al., “Myelodysplastic Syndrome With Trisomy 8 and Behçet Disease‐Like Intestinal and Upper Gastrointestinal Involvement,” Clinical Case Reports 13, no. 9 (2025): e70575, 10.1002/ccr3.70575.

Data Availability Statement

Data sharing not applicable to this article as no datasets were generated or analyzed during the current study.