Clinical and molecular characteristics of unicentric mediastinal Castleman disease

Legras, Antoine; Tallet, Anne; Didelot, Audrey; Cazes, Aurélie; Danel, Claire; Hin, Angela; Borie, R.; Crestani, Bruno; Castier, Yves; Bagan, Patrick; Pimpec‐Barthes, Françoise Le; Riquet, Marc; Mordant, Pierre

doi:10.21037/jtd.2018.03.159

Cited by 7 publications

(5 citation statements)

References 23 publications

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“…Overall, molecular aberrations were identified in 111 patients, which included seven cases with cytogenetic abnormalities and 104 cases with molecular data. The clinical characteristics and genetic abnormalities for each case are shown in Supplemental Tables S1 and S2 [ 7 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 ]. The female-to-male ratio was 21:24 for iMCD and 40:14 for UCD cases; of note, the study from Chang et al [ 29 ] was composed entirely of female patients.…”

Section: Resultsmentioning

confidence: 99%

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

Butzmann

Kumar

Sridhar

et al. 2021

Biology

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Castleman disease (CD) is a rare lymphoproliferative disorder known to represent at least four distinct clinicopathologic subtypes. Large advancements in our clinical and histopathologic description of these diverse diseases have been made, resulting in subtyping based on number of enlarged lymph nodes (unicentric versus multicentric), according to viral infection by human herpes virus 8 (HHV-8) and human immunodeficiency virus (HIV), and with relation to clonal plasma cells (POEMS). In recent years, significant molecular and genetic abnormalities associated with CD have been described. However, we continue to lack a foundational understanding of the biological mechanisms driving this disease process. Here, we review all cases of CD with molecular abnormalities described in the literature to date, and correlate cytogenetic, molecular, and genetic abnormalities with disease subtypes and phenotypes. Our review notes complex karyotypes in subsets of cases, specific mutations in PDGFRB N666S in 10% of unicentric CD (UCD) and NCOA4 L261F in 23% of idiopathic multicentric CD (iMCD) cases. Genes affecting chromatin organization and abnormalities in methylation are seen more commonly in iMCD while abnormalities within the mitogen-activated protein kinase (MAPK) and interleukin signaling pathways are more frequent in UCD. Interestingly, there is a paucity of genetic studies evaluating HHV-8 positive multicentric CD (HHV-8+ MCD) and POEMS-associated CD. Our comprehensive review of genetic and molecular abnormalities in CD identifies subtype-specific and novel pathways which may allow for more targeted treatment options and unique biologic therapies.

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Section: Resultsmentioning

confidence: 99%

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

Butzmann

Kumar

Sridhar

et al. 2021

Biology

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“…Castleman's disease can occur in all compartments of the mediastinum, with 90% of cases encountered here being of the unicentric hyaline-vascular subtype. [42][43][44] A…”

Section: A S T L E M a N ' S D I S E A S Ementioning

confidence: 99%

Benign lesions of the mediastinum

Gerber,

Porubsky

2023

Histopathology

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Mediastinal tumours represent a heterogeneous group of entities derived from the manifold structures located in or adjacent to the mediastinum. Due to the occurrence of some of these tumours in characteristic mediastinal compartments, an anatomical subdivision of the mediastinum in the prevascular (anterior), visceral (middle), and paravertebral (posterior) is helpful for the differential diagnosis. Benign anterior mediastinal tumours linked to an enlargement of the thymic gland mainly consist of thymic cysts and several types of thymic hyperplasia: true thymic hyperplasia, rebound hyperplasia, lymphofollicular hyperplasia, and so‐called thymic hyperplasia with lymphoepithelial sialadenitis (LESA)‐like features. Mature teratomas, ectopic (para)thyroid tissue, and benign thymic tumours such as thymolipoma or thymofibrolipoma represent further typical tumours of the anterior mediastinum. Pericardial, bronchogenic, or oesophageal duplication cysts predominate in the middle mediastinum, whereas neurogenic tumours and myelolipomas are characteristic findings in the posterior compartment. Vascular tumours, lipomas, adenomatoid tumours, Castleman disease, or mediastinitis are further examples of less frequent tumours or tumorous lesions affecting the mediastinum. This review focuses on benign mediastinal lesions with an emphasis on benign tumours of the thymus. Besides histology, characteristic epidemiological and clinical aspects prerequisite for the correct diagnosis and patient management are discussed.

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“…However, the pathogenesis of the other two subtypes of CD including UCD and iMCD is largely unknown, partly due to the rarity of the disorders. There are relatively few unbiased, genome-wide sequencing studies of CD, and those available have usually encompassed relatively small cohorts or gene panels [7–9]. Here, we carried out whole-exome sequencing in a cohort of 40 individuals with CD to illustrate the genetic landscape of this disease.…”

Section: To the Editormentioning

confidence: 99%

Recurrent PDGFRB mutations in unicentric Castleman disease

Liu

et al. 2019

Leukemia

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Clinical and molecular characteristics of unicentric mediastinal Castleman disease

Cited by 7 publications

References 23 publications

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

A Review of Genetic Abnormalities in Unicentric and Multicentric Castleman Disease

Benign lesions of the mediastinum

Recurrent PDGFRB mutations in unicentric Castleman disease

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