SMARCA4‐deficient rhabdoid tumours show intermediate molecular features between SMARCB1‐deficient rhabdoid tumours and small cell carcinomas of the ovary, hypercalcaemic type

Extracranial rhabdoid tumours (ECRTs) are an aggressive malignancy of infancy and early childhood. The vast majority of cases demonstrate inactivation of SMARCB1 (ECRTSMARCB1) on a background of a remarkably stable genome, a low mutational burden, and no other recurrent mutations. Rarely, ECRTs can...

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Veröffentlicht in:	The Journal of pathology 2021-09, Vol.255 (1), p.1-15
Hauptverfasser:	Andrianteranagna, Mamy, Cyrta, Joanna, Masliah‐Planchon, Julien, Nemes, Karolina, Corsia, Alice, Leruste, Amaury, Holdhof, Dörthe, Kordes, Uwe, Orbach, Daniel, Corradini, Nadège, Entz‐Werle, Natacha, Pierron, Gaëlle, Castex, Marie‐Pierre, Brouchet, Anne, Weingertner, Noëlle, Ranchère, Dominique, Fréneaux, Paul, Delattre, Olivier, Bush, Jonathan, Leary, Alexandra, Frühwald, Michael C, Schüller, Ulrich, Servant, Nicolas, Bourdeaut, Franck
Format:	Artikel
Sprache:	eng
Schlagworte:	BRG1 protein Carcinoma, Small Cell - genetics Carcinoma, Small Cell - pathology Child, Preschool Children Deoxyribonucleic acid DNA DNA Helicases - deficiency DNA Helicases - genetics DNA methylation epigenetics Female Humans Infant Malignancy methylation Nuclear Proteins - deficiency Nuclear Proteins - genetics Ovarian carcinoma Ovarian Neoplasms - genetics Ovarian Neoplasms - pathology Ovaries paediatric cancer Rhabdoid Tumor - genetics Rhabdoid Tumor - pathology rhabdoid tumours SCCOHT SMARCA2 SMARCA4 SMARCB1 SMARCB1 Protein - deficiency SMARCB1 Protein - genetics SWI/SNF Transcription Factors - deficiency Transcription Factors - genetics transcriptomics Tumors
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