Mediterranean fever gene variants modify clinical phenotypes of idiopathic multi-centric Castleman disease

Endo, Yuichi; Koga, Tomohiro; Ubara, Y; Sumiyoshi, Remi; Furukawa, Kaori; Kawakami, Atsushi

doi:10.1111/cei.13632

Cited by 10 publications

(4 citation statements)

References 28 publications

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“…Somatic mutations were prone to enrichment in the mitogen-activated protein kinase and interleukin pathways in UCD and iMCD; however, genes affecting chromatin remodeling were solely enriched in iMCD[ 38 ]. Moreover, patients with iMCD have a high prevalence of germline MEFV variants that modify their clinical phenotypes and treatment responses[ 39 , 40 ]. Transcriptome profiling also revealed that UCD and MCD are involved in unique genes, pathways, and cell types[ 35 ].…”

Section: Discussionmentioning

confidence: 99%

Solitary hyoid plasmacytoma with unicentric Castleman disease: A case report and review of literature

Zhang¹,

He²,

Hao³

et al. 2022

World J Clin Cases

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BACKGROUND Solitary plasmacytoma and unicentric Castleman disease (UCD) are rare lymphoproliferative disorders characterized by monoclonal plasma cells and a single set of locally enlarged lymph nodes, respectively. CASE SUMMARY A 48-year-old Han Chinese man presented to our department with a neck mass and progressive foreign body sensation in his throat. 18 F-FDG positron emission tomography revealed focally increased radioactivity centered around the hyoid, and computed tomography (CT) revealed osteolytic lesions. Histopathology revealed Castleman-like features and CD138/CD38-positive mature plasma cells. Systemic work-up ruled out the possibility of POEMS syndrome, lymphoma, and multiple myeloma, leading to a final diagnosis of solitary hyoid plasmacytoma with UCD. The patient underwent partial hyoid resection and selective neck dissection, followed by intensity-modulated radiotherapy. 99mTc-MDP single-photon emission computed tomography/CT reevaluation showed neither local recurrence nor distant bone metastasis at the 40-mo follow-up. CONCLUSION The diagnostic process and differential diagnosis of this rare case provided valuable educational information to clinicians.

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Section: Discussionmentioning

confidence: 99%

Solitary hyoid plasmacytoma with unicentric Castleman disease: A case report and review of literature

Zhang¹,

He²,

Hao³

et al. 2022

World J Clin Cases

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“…The examination, which applied targeted next-generation sequencing to 31 genes, identified MEFV gene variations in a significant portion of the cohort. Distinguishing these individuals based on the presence of certain MEFV variants, their clinical profiles were scrutinized, revealing that patients with specific MEFV mutations experienced more frequent febrile episodes and exhibited lower hemoglobin levels, compared to those without such variants [ 34 ].…”

Section: Alternative Perspectives On the Pathogenesis Of Imcdmentioning

confidence: 99%

Biomarkers and Signaling Pathways Implicated in the Pathogenesis of Idiopathic Multicentric Castleman Disease/Thrombocytopenia, Anasarca, Fever, Reticulin Fibrosis, Renal Insufficiency, and Organomegaly (TAFRO) Syndrome

Sumiyoshi,

Koga,

Kawakami

2024

Biomedicines

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Idiopathic multicentric Castleman disease (iMCD) and TAFRO syndrome present a variety of symptoms thought to be caused by excessive inflammatory cytokines and chemokines, but the underlying mechanisms are unknown. iMCD is broadly classified into two types: iMCD-NOS and iMCD-TAFRO, which have distinct laboratory findings, pathological features, and responses to treatments. It is thought that iMCD-NOS, particularly the IPL type, responds favorably to IL-6 inhibitors due to its IL-6-centric profile. iMCD-TAFRO frequently progresses acutely and seriously, similar to TAFRO syndrome. Elevated levels of cytokines, including IL-1β, TNF-α, IL-10, and IL-23, as well as chemokines like CXCL13 and CXCL-10 (especially in iMCD-TAFRO), SAA, and VEGF, have been linked to the disease’s pathology. Recent research has identified key signaling pathways including PI3K/Akt/mTOR and JAK-STAT3, as well as those regulated by type I IFN, as crucial in iMCD-TAFRO. These results suggest that dominant pathways may vary between subtypes. Further research into the peripheral blood and lymph nodes is required to determine the disease spectrum of iMCD-NOS/iMCD-TAFRO/TAFRO syndrome.

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“…23 , 24 Autoinflammatory mechanisms have been implicated in the pathogenesis of iMCD, and 14 Japanese patients with iMCD were evaluated. 25 The genetic analysis of 31 autoinflammatory disease-related genes was performed using targeted next-generation sequencing; variants in the MEFV gene were found in 10 of the 14 iMCD patients. The patients were then divided into two groups, one with MEFV variants (except E148Q variant) and the other without MEFV variants, and their clinical characteristics were compared: patients with MEFV variants except E148Q were significantly more likely to have a fever and had significantly lower hemoglobin levels than patients without MEFV variants.…”

Section: New Insights Into the Pathogenesis Of Imcdmentioning

confidence: 99%

Candidate biomarkers for idiopathic multicentric Castleman disease

Sumiyoshi

Koga

Kawakami

2022

JCEH

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The clinical manifestations of idiopathic multicentric Castleman disease (iMCD) are thought to be caused by an excess of inflammatory cytokines; however, the mechanism is yet to be known. In addition to IL-6, inflammatory cytokines, such as IL-1β and TNF-α, are noted to be elevated in iMCD, which are common in autoinflammatory diseases. The first-line treatment for iMCD is an IL-6 inhibitor. Furthermore, increases in inflammatory cytokines such as serum IL-10 and IL-23, chemokines such as CXCL13 and CXCL-10 (especially in iMCD-TAFRO), and VEGF-A have been observed, and their relationship to pathogenesis has attracted the attention of researchers. The PI3K/Akt/mTOR pathway, JAK/STAT3 pathway, and type I IFN as drivers have recently been identified as important signals and are expected to be therapeutic targets in cases where IL-6 inhibitors are ineffective.

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Mediterranean fever gene variants modify clinical phenotypes of idiopathic multi-centric Castleman disease

Abstract: This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

Cited by 10 publications

References 28 publications

Solitary hyoid plasmacytoma with unicentric Castleman disease: A case report and review of literature

Solitary hyoid plasmacytoma with unicentric Castleman disease: A case report and review of literature

Biomarkers and Signaling Pathways Implicated in the Pathogenesis of Idiopathic Multicentric Castleman Disease/Thrombocytopenia, Anasarca, Fever, Reticulin Fibrosis, Renal Insufficiency, and Organomegaly (TAFRO) Syndrome

Candidate biomarkers for idiopathic multicentric Castleman disease

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