Simultaneous Occurrence of Inflammatory Bowel Disease and Myelodysplastic Syndrome due to Chromosomal Abnormalities in Bone Marrow Cells

Nakamura, Fumiyasu; Watanabe, Tomohiro; Hori, Kazuko; Ohara, Yoshiaki; Yamashita, Kouhei; Tsuji, Yoshihisa; Ueda, Yoshihide; Mikami, Shuji; Nakase, Hiroshi; Chiba, Tsutomu

doi:10.1159/000213486

Cited by 12 publications

(12 citation statements)

References 30 publications

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“…It is well known that trisomy 8 is a common chromosomal abnormality in MDS. It often manifests as GI lesions, including small bowel lesions [8]. …”

Section: Discussionmentioning

confidence: 99%

Treatment of Crohn’s disease complicated with myelodysplastic syndrome via allogeneic hematopoietic stem cell transplantation: case report and literature review

Liu

et al. 2014

Clin J Gastroenterol

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Crohn’s disease (CD) is a chronic inflammatory disease of the gastrointestinal tract arising in individuals with genetic predisposing factors and abnormalities of the immune system. Myelodysplastic syndrome (MDS), an acquired clonal hematologic disorder, is characterized by peripheral blood cytopenia, dysplastic changes in several types of hematopoietic cells of the bone marrow and peripheral blood, and a high risk of transformation to acute leukemia. CD rarely occurs in combination with MDS, and MDS treatment with hematopoietic stem cell transplantation (HSCT) has not been frequently reported. We report the case of a 50-year-old Chinese male who presented with abdominal pain, diarrhea, and fatigue. CD was diagnosed by colonoscopy, imaging studies, and pathological examination. He was initially treated with mesalazine and prednisone and thereafter he presented with pancytopenia. MDS (RAEB-I) was diagnosed by bone marrow examination, and karyotyping revealed 47, XY, +8. The patient was treated with thalidomide, andriol, and decitabine. Allogeneic HSCT was performed with a human leukocyte antigen-matched sibling as the donor. The patient is currently well at 14 months after HSCT, without abdominal pain, diarrhea, or fatigue. HSCT may be a promising treatment option for patients with combined CD and MDS.

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“…It is well known that trisomy 8 is a common chromosomal abnormality in MDS. It often manifests as GI lesions, including small bowel lesions [8]. …”

Section: Discussionmentioning

confidence: 99%

Treatment of Crohn’s disease complicated with myelodysplastic syndrome via allogeneic hematopoietic stem cell transplantation: case report and literature review

Liu

et al. 2014

Clin J Gastroenterol

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“…However, in this case, many patients diagnosed with IBD frequently presented with clinical manifestations of MDS before diagnosis. 5–7 Other acute and chronic autoimmune disorders associated with MDS are diverse types of vasculitis, autoimmune anemias, several rheumatic and skin disorders and certain thyroid diseases. 3,8,9 …”

Section: The Inflammatory and Autoimmune Nature Of Mdsmentioning

confidence: 99%

“…14,15 Indeed, patients frequently present with clinical manifestations of MDS before diagnosis of IBD. 5–7 This has led to the speculation that MDS and IBD could have a common pathogenesis. For instance, one case study reported that the same abnormal BM karyotype is associated with the development of both MDS and IBD.…”

Section: The Inflammatory and Autoimmune Nature Of Mdsmentioning

confidence: 99%

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Deregulation of innate immune and inflammatory signaling in myelodysplastic syndromes

et al. 2015

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Myelodysplastic syndromes (MDSs) are a group of heterogeneous clonal hematologic malignancies that are characterized by defective bone marrow (BM) hematopoiesis and by the occurrence of intramedullary apoptosis. During the past decade, the identification of key genetic and epigenetic alterations in patients has improved our understanding of the pathophysiology of this disease. However, the specific molecular mechanisms leading to the pathogenesis of MDS have largely remained obscure. Recently, essential evidence supporting the direct role of innate immune abnormalities in MDS has been obtained, including the identification of multiple key regulators that are overexpressed or constitutively activated in BM hematopoietic stem and progenitor cells. Mounting experimental results indicate that the dysregulation of these molecules leads to abnormal hematopoiesis, unbalanced cell death and proliferation in patients' BM, and has an important role in the pathogenesis of MDS. Furthermore, there is compelling evidence that the deregulation of innate immune and inflammatory signaling also affects other cells from the immune system and the BM microenvironment, which establish aberrant associations with hematopoietic precursors and contribute to the MDS phenotype. Therefore, the deregulation of innate immune and inflammatory signaling should be considered as one of the driving forces in the pathogenesis of MDS. In this article, we review and update the advances in this field, summarizing the results from the most recent studies and discussing their clinical implications.

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“…Interestingly, BM cells from this patient had double chromosomal abnormalities: trisomy 8 and der(1;7)(q10;p10). Monocytes from this patient acquired inflammatory phenotypes, because the presence of these chromosomal abnormalities in BM cells allowed the development of colitogenic monocytes, which exhibited the resistance to apoptosis and produced pro‐inflammatory cytokines upon stimulation with TLR ligands . These findings suggest that the MDS‐associated chromosomal abnormalities of trisomy 8 and der(1;7)(q10;p10) may lead to the development of unexpected clinical manifestations.…”

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confidence: 78%

The implications of myelodysplastic syndrome – associated chromosomal abnormalities in the development of graft‐versus‐host disease

Arai

Yamashita

Mizugishi

et al. 2013

European J of Haematology

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There is a growing body of evidences that acquired chromosomal abnormalities in bone marrow (BM) cells are associated with clinical manifestations of myelodysplastic syndrome (MDS). However, to our knowledge, there are no reports that describe the association between chromosomal abnormalities in MDS and graft-versus-host disease (GVHD) after allogeneic stem cell transplantation (allo-SCT). Here, we describe two MDS cases with trisomy 8 and der(1;7)(q10;p10), who developed severe GVHD after allo-SCT. We analyzed cytokine production and cell survival of monocytes from these patients with MDS before allo-SCT, in comparison with healthy controls or an MDS patient with a different chromosomal abnormality, who has not developed GVHD. The monocytes from MDS patients with trisomy 8 and der(1;7)(q10;p10) produced a larger amount of pro-inflammatory cytokine, tumor necrosis factor-α, and a smaller amount of anti-inflammatory cytokine, interleukin-10, on stimulation with Toll-like receptor (TLR) ligands. In addition, the monocytes from MDS cases with GVHD showed a decrease in apoptotic cell death upon stimulation with TLR ligands. We also detected host-derived pro-inflammatory antigen-presenting cells (APCs) in skin GVHD lesions after allo-SCT. These data suggest that trisomy 8 and der(1;7)(q10;p10) may be associated with the development of severe GVHD, by prolonging survival of pro-inflammatory host-derived APCs in GVHD lesions.

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Simultaneous Occurrence of Inflammatory Bowel Disease and Myelodysplastic Syndrome due to Chromosomal Abnormalities in Bone Marrow Cells

Cited by 12 publications

References 30 publications

Treatment of Crohn’s disease complicated with myelodysplastic syndrome via allogeneic hematopoietic stem cell transplantation: case report and literature review

Treatment of Crohn’s disease complicated with myelodysplastic syndrome via allogeneic hematopoietic stem cell transplantation: case report and literature review

Deregulation of innate immune and inflammatory signaling in myelodysplastic syndromes

The implications of myelodysplastic syndrome – associated chromosomal abnormalities in the development of graft‐versus‐host disease

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