ArticleGenes, chromosomes & cancer2018
High sensitivity of FISH analysis in detecting homozygous SMARCB1 deletions in poorly differentiated chordoma: a clinicopathologic and molecular study of nine cases.
Article in Genes, chromosomes & cancer, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 35 citations in OpenAlex.
- SMARCB1-deficient sinonasal carcinoma in a pediatric patient: Imaging findings and differential diagnosis of a rare entity.Radiology case reports · 2026Article
- Comprehensive profiling of paediatric chordoma: poorly differentiated and conventional subtypes.Brain communications · 2026Article
- Poorly differentiated chordoma: recognising this complex and rare aggressive tumour with characteristic immunohistochemical profile.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Article
- Chordoma: Genetics and Contemporary Management.International journal of molecular sciences · 2024Review
- Article
- The roles of the SWI/SNF complex in cancer.Cancer cytopathology · 2023Article
- The NIH pediatric/young adult chordoma clinic and natural history study: Making advances in a very rare tumor.Pediatric blood & cancer · 2023Article
- Update of pediatric bone tumors-notochordal tumors, chondrogenic tumors, and vascular tumors of the bone.Skeletal radiology · 2023Review
- Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities.Acta neuropathologica communications · 2023Review
- SMARCB1/INI1 loss in skull base conventional chordomas: a clinicopathological and molecular analysis.Frontiers in oncology · 2023Article
- The genetic landscape of SMARCB1 alterations in SMARCB1-deficient spectrum of mesenchymal neoplasms.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Article
- Immunotherapy for SMARCB1-Deficient Sarcomas: Current Evidence and Future Developments.Biomedicines · 2022Review
- SWI/SNF complex-deficient soft tissue neoplasms: An update.Seminars in diagnostic pathology · 2021Review
- Soft Tissue Special Issue: Chondroid Neoplasms of the Skull.Head and neck pathology · 2020Review
- Translational Windows in Chordoma: A Target Appraisal.Frontiers in neurology · 2020Review
- Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.Neuro-oncology advancesArticle
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Authors and funding
4 authors at 1 institution in 1 country.
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Abstract
Poorly differentiated chordomas (PDCs) represent a rare subset of notochordal neoplasms, affecting primarily children and associated with an aggressive outcome. In contrast to conventional chordomas, PDC show solid growth and increased cellularity, cytologic atypia, and mitotic activity. Recent studies have shown that PDCs are characterized by recurrent deletions encompassing the SMARCB1 locus, resulting in consistent loss of nuclear SMARCB1 expression. Thus PDC joined the expanding family of SMARCB1-deficient tumors characterized by various SMARCB1 structural abnormalities, ranging from large homozygous deletions to small intragenic mutations. In the present study, we investigate the SMARCB1 abnormalities in a group of nine well-characterized PDCs and to establish the sensitivity of the FISH method in detecting these changes in the clinical setting. We further assessed the pathologic features and clinical behavior of this cohort managed at our referral center over a 20-year period. The mean age at diagnosis was 10 years-of-age. All except one case occurred in the cranial region. All demonstrated strong nuclear expression of brachyury and loss of SMARCB1 expression. FISH identified homozygous SMARCB1 deletions in all except one case; additionally two cases revealed a heterozygous EWSR1 locus co-deletion. Clinical follow-up information was available in five patients. Two patients presented with distant metastases at initial diagnosis. Two of the three remaining patients with primary disease failed both locally and distantly after multimodality therapy. We conclude that PDCs are highly aggressive tumors and the dominant mechanism of loss of SMARCB1 expression is through large, homozygous SMARCB1 deletions that can be readily detected by FISH.
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