Behçet’s Disease-like Symptoms Associated with Myelodysplastic Syndrome with Trisomy 8: A Case Report and Review of the Literature

Koguchi‐Yoshioka, Hanako; Inokuma, Daisuke; Kanda, Masatoshi; Kondo, Makoto; Kikuchi, Kazuhiro; Shimizu, Satoko

doi:10.2340/00015555-1706

Cited by 10 publications

(5 citation statements)

References 13 publications

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“…All three harbored a trisomy 8 in their bone marrow (Table 1). The association between trisomy 8 and Behcet's‐like phenotype was first reported in 1996 by Yano et al., 31 and since then was reported in a few small series, 12–15 mainly in patients from East Asian ethnicity. Interestingly, an increased incidence of Behcet's disease is reported also in patients with constitutional trisomy 8, 32 but the pathological cause of the specific phenotype is still not known 14 .…”

Section: Discussionmentioning

confidence: 94%

“…16 Concurrently, clonal hematopoiesis may skew the T-cell repertoire 29 or directly impair the function of myeloid originated innate immune cells, 16 resulting in inflammatory paraneoplastic manifestations presented concomitantly or soon after the diagnosis of MDS. Though clinical association between IM and MDS has been reported in adults, [12][13][14][15][16][17][18][19][20] the mechanism is not always understood and only few pediatric cases have been reported. 21,22 As pediatric MDS is biologically different, it is essential to characterize this entity in children and to explore its pathogenesis and possible treatments.…”

Section: Discussionmentioning

confidence: 99%

“…10 They usually include fever, arthritis, vasculitis, connective tissue disease, and gastrointestinal (GI) ulcers. 10,11 To date, the only known correlation between specific somatic alternations and the occurrence of IM are the entity of MDS with Behcet's-like disease that is reported to be associated with trisomy 8, [12][13][14][15] and the recently described VEXAS syndrome that is caused by somatic mutations in the UBA1 gene. 16 Treatments for MDS-IM in adults focus on palliation of symptoms using anti-inflammatory drugs 17 and/or hypomethylating agents as a steroid-sparing strategy.…”

Section: Introductionmentioning

confidence: 99%

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Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome

Yanir

Krauss

Stein

et al. 2021

Pediatric Blood & Cancer

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Background Inflammatory manifestations (IM) are well described in adult patients with myelodysplastic syndrome (MDS), but the presentation is highly variable and no standardized treatment exists. This phenomenon is rarely reported in children. As more pediatric patients are hematopoietic stem cell transplantation (HSCT) candidates, the role of anti‐inflammatory treatment in relation to HSCT should be defined. Procedure Here, we report a series of five children from a tertiary center. We describe the clinical presentation, molecular findings, and treatment options. Results All patients presented with advanced MDS with blast percentages ranging 10–30%, all had severe IM. One patient had MDS secondary to severe congenital neutropenia, the other four patients had presumably primary MDS. All four were found to harbor a PTPN11 gene driver mutation, which is found in 35% of cases of juvenile myelomonocytic leukemia (JMML). The mutation was present in the myeloid lineage but not in T lymphocytes. Three had symptoms of Behcet's‐like disease with trisomy 8 in their bone marrow. All patients were treated with anti‐inflammatory medications (mainly systemic steroids) in an attempt to bring them to allogeneic HSCT in a better clinical condition. All demonstrated clinical improvement as well as regression in their MDS status post anti‐inflammatory treatment. All have recovered from both MDS and their inflammatory symptoms post HSCT. Conclusion Primary pediatric MDS with IM is driven in some cases by PTPN11 mutations, and might be on the clinical spectrum of JMML. Anti‐inflammatory treatment may reverse MDS progression and improve the outcome of subsequent HSCT.

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Section: Discussionmentioning

confidence: 94%

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome

Yanir

Krauss

Stein

et al. 2021

Pediatric Blood & Cancer

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“…Among the different immune‐mediated disorders involving the gastrointestinal system, BD is the most frequent in patients with MDS. 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 .…”

Section: Autoimmune Manifestations Involving Specific Sitesmentioning

confidence: 99%

The burden of autoimmunity in myelodysplastic syndromes

Fozza

2017

Hematological Oncology

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The clinical history of patients with myelodysplastic syndromes (MDS) is characterised by bone marrow insufficiency as well as by the possible evolution into acute leukaemia. However a number of reports highlight the frequent occurrence of autoimmune manifestations involving different sites and organs. The present review will first describe the clinical pictures most often observed in MDS patients. The actual burden of autoimmunity will be then addressed by focusing on the few available registry studies. Finally, the potential collateral impact of specific treatments for MDS on the evolution of autoimmune disorders will be considered.

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“…There have been several published reports on inflammatory disorders in trisomy 8 patients with myelodysplastic syndromes (MDS)[ 1 - 3 ]. However, inflammatory disorders are not well known in patients without MDS, and these patients differ from those with MDS.…”

Section: Introductionmentioning

confidence: 99%

Severe inflammatory disorder in trisomy 8 without myelodysplastic syndrome and response to methylprednisolone: A case report

Pan,

Fan,

Zhuang

et al. 2023

World J Clin Cases

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Fasting during the month of Ramadan is one of the five fundamental principles of Islam, and it is obligatory for healthy Muslim adults and adolescents. During the fasting month, Muslims usually have two meals a day, suhur (before dawn) and iftar (after dusk). However, diabetic patients may face difficulties when fasting, so it is important for medical staff to educate them on safe fasting practices. Prolonged strict fasting can increase the risk of hypoglycemia and diabetic ketoacidosis, but with proper knowledge, careful planning, and medication adjustment, diabetic Muslim patients can fast during Ramadan. For this review, a literature search was conducted using PubMed and Google Scholar until May 2023. Articles other than the English language were excluded. Current strategies for managing blood sugar levels during Ramadan include a combination of patient education on nutrition, regular monitoring of blood glucose, medications, and insulin therapy. Insulin therapy can be continued during fasting if properly titrated to the patients’ needs, and finger prick blood sugar levels should be assessed regularly. If certain symptoms such as hypoglycemia, hyperglycemia, dehydration, or acute illness occur, or blood glucose levels become too high (> 300 mg/dL) or too low (70 mg/dL), the fast should be broken. New insulin formulations such as pegylated insulin and medications like tirzepatide, a dual agonist of gastric-inhibitory peptideand glucagonlike-peptide 1 receptors, have shown promise in managing blood sugar levels during Ramadan. Non-insulin-dependent medications like sodium-glucose-cotransporter-2 inhibitors, including the Food and Drug Administration-approved ertugliflozin, are also being used to provide additional cardiovascular benefits in patients with type 2 diabetes.

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Behçet’s Disease-like Symptoms Associated with Myelodysplastic Syndrome with Trisomy 8: A Case Report and Review of the Literature

Cited by 10 publications

References 13 publications

Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome

Pediatric myelodysplastic syndrome with inflammatory manifestations: Diagnosis, genetics, treatment, and outcome

The burden of autoimmunity in myelodysplastic syndromes

Severe inflammatory disorder in trisomy 8 without myelodysplastic syndrome and response to methylprednisolone: A case report

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