Poorly differentiated chordoma with whole‐genome doubling evolving from a SMARCB1‐deficient conventional chordoma: A case report

Evolution of poorly differentiated chordoma from conventional chordoma has not been previously reported. We encountered a case of a poorly differentiated chordoma with evidence of whole‐genome doubling arising from a SMARCB1‐deficient conventional chordoma. The tumor presented as a destructive sacra...

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Veröffentlicht in:	Genes chromosomes & cancer 2021-01, Vol.60 (1), p.43-48
Hauptverfasser:	Curcio, Christian, Cimera, Robert, Aryeequaye, Ruth, Rao, Mamta, Fabbri, Nicola, Zhang, Yanming, Hameed, Meera
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Case reports Chordoma - genetics Chordoma - pathology Chromosome 4 Chromosome Deletion conventional chordoma Fetal Proteins - genetics Fetal Proteins - metabolism Fluorescence in situ hybridization Gene deletion Genomes Genomic analysis Genomics Humans Immunohistochemistry Male p53 Protein poorly differentiated chordoma Sacrum Sacrum - pathology Single-nucleotide polymorphism SMARCB1 SMARCB1 Protein - deficiency SMARCB1 Protein - genetics Spinal Neoplasms - genetics Spinal Neoplasms - pathology T-Box Domain Proteins - genetics T-Box Domain Proteins - metabolism Tetraploidy whole‐genome doubling
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Zusammenfassung:	Evolution of poorly differentiated chordoma from conventional chordoma has not been previously reported. We encountered a case of a poorly differentiated chordoma with evidence of whole‐genome doubling arising from a SMARCB1‐deficient conventional chordoma. The tumor presented as a destructive sacral mass in a 43‐year‐old man and was comprised of a highly cellular poorly differentiated chordoma with small, morphologically distinct nodules of conventional chordoma accounting for
ISSN:	1045-2257 1098-2264
DOI:	10.1002/gcc.22895