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Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family.

ABSTRACT: BCOR-ITD tumours form an emerging family of aggressive entities with an internal tandem duplication (ITD) in the last exon of the BCOR gene. The family includes cerebral tumours, termed central nervous system BCOR-ITD (CNS BCOR-ITD), and sarcomatous types described in the kidney as clear cell sarcoma of the kidney (CCSK), in the endometrium as high-grade endometrial stromal sarcoma, and in the bone and soft tissue as undifferentiated round cell sarcoma or primitive myxoid mesenchymal tumour of infancy. Based on a series of 33 retrospective cases, including 10 CNS BCOR-ITD and 23 BCOR-ITD sarcomas, we interrogated the homogeneity of the entity regarding clinical, radiological, and histopathological findings, and molecular signatures. Whole-transcriptomic sequencing and DNA methylation profiling were used for unsupervised clustering. BCOR-ITD tumours mostly affected young children with a median age at diagnosis of 2.1 years (range 0-62.4). Median overall survival was 3.9 years and progression-free survival was 1.4 years. This dismal prognosis is shared among tumours in all locations except CCSK. Histopathological review revealed marked differences between CNS BCOR-ITD and BCOR-ITD sarcomas. These two groups were consistently segregated by unsupervised clustering of expression (n = 22) and DNA methylation (n = 21) data. Proximity between the two groups may result from common somatic changes within key pathways directly related to the novel activity of the ITD itself. Conversely, comparison of gene signatures with single-cell RNA-Seq atlases suggests that the distinction between BCOR-ITD sarcomas and CNS BCOR-ITD may result from differences in cells of origin.

SUBMITTER: Bouchoucha Y

PROVIDER: S-EPMC8977275 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature

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Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family.

Bouchoucha Yassine Y Tauziède-Espariat Arnault A Gauthier Arnaud A Guillemot Delphine D Bochaton Dorian D Vibert Julien J Carton Matthieu M Watson Sarah S Grossetête Sandrine S Quignot Chloé C Orbach Daniel D Corradini Nadège N Schleiermacher Gudrun G Bourdeaut Franck F Simbozel Marie M Dufour Christelle C Minard-Colin Véronique V Brahmi Mehdi M Tirode Franck F Pissaloux Daniel D Karanian Marie M Machet Marie-Christine MC Masliah-Planchon Julien J Delattre Olivier O Cardoen Liesbeth L Pierron Gaëlle G Doz François F

The journal of pathology. Clinical research 20220217 3

BCOR-ITD tumours form an emerging family of aggressive entities with an internal tandem duplication (ITD) in the last exon of the BCOR gene. The family includes cerebral tumours, termed central nervous system BCOR-ITD (CNS BCOR-ITD), and sarcomatous types described in the kidney as clear cell sarcoma of the kidney (CCSK), in the endometrium as high-grade endometrial stromal sarcoma, and in the bone and soft tissue as undifferentiated round cell sarcoma or primitive myxoid mesenchymal tumour of i ...[more]

PMID: 35174661

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Project description:Background and purposeCarotid stenosis is arterial disease narrowing of the origin of the internal carotid artery (main brain artery). Knowing how to best manage this is imperative because it is common in older people and an important cause of stroke. Inappropriately high expectations have grown regarding the value of carotid artery procedures, such as surgery (endarterectomy) and stenting, for lowering the stroke risk associated with carotid stenosis. Meanwhile, the improving and predominant value of medical intervention (lifestyle coaching and medication) continues to be underappreciated.Methods and resultsThis article aims to be an objective presentation and discussion of the scientific literature critical for decision making when the primary goal is to optimize patient outcome. This compilation follows from many years of author scrutiny to separate fact from fiction. Common sense conclusions are drawn from factual statements backed by original citations. Detailed research methodology is given in cited papers. This article has been written in plain language given the importance of the general public understanding this topic. Issues covered include key terminology and the economic impact of carotid stenosis. There is a summary of the evidence-base regarding the efficacy and safety of procedural and medical (non-invasive) interventions for both asymptomatic and symptomatic patients. Conclusions are drawn with respect to current best management and research priorities. Several "furphies" (misconceptions) are exposed that are commonly used to make carotid stenting and endarterectomy outcomes appear similar. Ongoing randomized trials are mentioned and why they are unlikely to identify a routine practice indication for carotid artery procedures. There is a discussion of relevant worldwide guidelines regarding carotid artery procedures, including how they should be improved. There is an outline of systematic changes that are resulting in better application of the evidence-base.ConclusionThe cornerstone of stroke prevention is medical intervention given it is non-invasive and protects against all arterial disease complications in all at risk. The "big" question is, does a carotid artery procedure add patient benefit in the modern era and, if so, for whom?

Dataset Information

Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family.

Publications

Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family.

Similar Datasets

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