ArticleGenes, chromosomes & cancer2016
Secondary EWSR1 gene abnormalities in SMARCB1-deficient tumors with 22q11-12 regional deletions: Potential pitfalls in interpreting EWSR1 FISH results.
Article in Genes, chromosomes & cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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14 citing papers in PubMed, 50 citations in OpenAlex.
- Clinicopathologic and Molecular Characterization of SMARCB1-Deificient Sinonasal Carcinomas -A Systematic Study from a Single Institution Cohort.Head and neck pathology · 2025Article
- Conventional Spinal Chordomas: Investigation of SMARCB1/INI1 Protein Expression, Genetic Alterations inCancers · 2024Article
- Update of pediatric bone tumors-notochordal tumors, chondrogenic tumors, and vascular tumors of the bone.Skeletal radiology · 2023Review
- Extraskeletal Ewing sarcoma presenting as an axillary mass with pulmonary metastases.BMJ case reports · 2023Article
- SMARCB1/INI1 loss in skull base conventional chordomas: a clinicopathological and molecular analysis.Frontiers in oncology · 2023Article
- Review
- Myoepithelial carcinoma of major salivary glands: Analysis of population-based clinicopathologic and prognostic features.Translational oncology · 2022Article
- SWI/SNF complex-deficient soft tissue neoplasms: An update.Seminars in diagnostic pathology · 2021Review
- Ewing Sarcoma-Diagnosis, Treatment, Clinical Challenges and Future Perspectives.Journal of clinical medicine · 2021Review
- Case Report: SMARCB1 (INI-1)-Deficient Carcinoma of the Nasal Cavity with Pure Yolk Sac Tumor Differentiation and Elevated Serum AFP Levels.OncoTargets and therapy · 2021Article
- What is new in epithelioid soft tissue tumors?Virchows Archiv : an international journal of pathology · 2020Review
- Array-based DNA-methylation profiling in sarcomas with small blue round cell histology provides valuable diagnostic information.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2018Article
- High sensitivity of FISH analysis in detecting homozygous SMARCB1 deletions in poorly differentiated chordoma: a clinicopathologic and molecular study of nine cases.Genes, chromosomes & cancer · 2018Article
- The spectrum of EWSR1-rearranged neoplasms at a tertiary sarcoma centre; assessing 772 tumour specimens and the value of current ancillary molecular diagnostic modalities.British journal of cancer · 2017Article
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7 authors at 2 institutions in 2 countries.
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Abstract
SMARCB1 inactivation occurs in a variety of tumors, being caused by various genetic mechanisms. Since SMARCB1 and EWSR1 genes are located close to each other on chromosome 22, larger SMARCB1 deletions may encompass the EWSR1 locus. Herein, we report four cases with SMARCB1-deletions showing concurrent EWSR1 gene abnormalities by FISH, which lead initially to misinterpretations as EWSR1-rearranged tumors. Our study group included various morphologies: a poorly differentiated chordoma, an extrarenal rhabdoid tumor, a myoepithelial carcinoma, and a proximal-type epithelioid sarcoma. All cases showed loss of SMARCB1 (INI1) by immunohistochemistry (IHC) and displayed characteristic histologic features for the diagnoses. The SMARCB1 FISH revealed homozygous or heterozygous deletions in three and one case, respectively. The co-hybridized EWSR1 probes demonstrated either unbalanced split signals or heterozygous deletion in two cases each. The former suggested bona fide rearrangement, while the latter resembled an unbalanced translocation. However, all the FISH patterns were quite complex and distinct from the simple and uniform split signals seen in typical EWSR1 rearrangements. We conclude that in the context of 22q11-12 regional alterations present in SMARCB1-deleted tumors, simultaneous EWSR1 involvement may be misinterpreted as equivalent to EWSR1 rearrangement. A detailed clinicopathologic correlation and supplementing the EWSR1 FISH assay with complementary methodology is mandatory for correct diagnosis. © 2016 Wiley Periodicals, Inc.
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