Poorly differentiated chordoma with whole-genome doubling evolving from a SMARCB1-deficient conventional chordoma: A case report
- Resource Type
- Authors
- Robert Cimera; Mamta Rao; Christian Curcio; Yanming Zhang; Ruth Aryeequaye; Nicola Fabbri; Meera Hameed
- Source
- Genes Chromosomes Cancer
- Subject
- musculoskeletal diseases
Adult
Fetal Proteins
Male
Cancer Research
Brachyury
Sacrum
Single-nucleotide polymorphism
Biology
Genome
Article
03 medical and health sciences
0302 clinical medicine
Genetics
medicine
Chordoma
Humans
SMARCB1
Spinal Neoplasms
medicine.diagnostic_test
SMARCB1 Protein
medicine.disease
Tetraploidy
Chromosome 4
030220 oncology & carcinogenesis
Cancer research
Immunohistochemistry
Chromosome Deletion
T-Box Domain Proteins
Fluorescence in situ hybridization
- Language
- ISSN
- 1098-2264
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