Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: A clinicopathological and molecular analysis Journal Article

   


Authors: Wen, X.; Cimera, R.; Aryeequaye, R.; Abhinta, M.; Athanasian, E.; Healey, J.; Fabbri, N.; Boland, P.; Zhang, Y.; Hameed, M.
Article Title: Recurrent loss of chromosome 22 and SMARCB1 deletion in extra-axial chordoma: A clinicopathological and molecular analysis
Abstract: Extra-axial chordoma is a rare neoplasm of extra-axial skeleton and soft tissue that shares identical histomorphologic and immunophenotypic features with midline chordoma. While genetic changes in conventional chordoma have been well-studied, the genomic alterations of extra-axial chordoma have not been reported. It is well known that conventional chordoma is a tumor with predominantly non-random copy number alterations and low mutational burden. Herein we describe the clinicopathologic and genomic characteristics of six cases of extra-axial chordoma, with genome-wide high-resolution single nucleotide polymorphism array, fluorescence in situ hybridization and targeted next-generation sequencing (NGS) analysis. The patients presented at a mean age of 33 years (range: 21–54) with a female to male ratio of 5:1. Four cases were histologically conventional type, presented with bone lesions and three of them had local recurrence. Two cases were poorly differentiated chordomas, presented with intra-articular soft tissue masses and both developed distant metastases. All cases showed brachyury positivity and the two poorly differentiated chordomas showed in addition loss of INI-1 expression by immunohistochemical analysis. Three of four extra-axial conventional chordomas showed simple genome with loss of chromosome 22 or a heterozygous deletion of SMARCB1. Both poorly differentiated chordomas demonstrated a complex hyperdiploid genomic profile with gain of multiple chromosomes and homozygous deletion of SMARCB1. Our findings show that heterozygous deletion of SMARCB1 or the loss of chromosome 22 is a consistent abnormality in extra-axial chordoma and transformation to poorly differentiated chordoma is characterized by homozygous loss of SMARCB1 associated with genomic complexity and instability such as hyperdiploidy. © 2021 Wiley Periodicals LLC.
Keywords: smarcb1; ini1; extra-axial chordoma; extra-axial poorly differentiated chordoma
Journal Title: Genes Chromosomes and Cancer
Volume: 60
Issue: 12
ISSN: 1045-2257
Publisher: Wiley Periodicals, Inc  
Date Published: 2021-12-01
Start Page: 796
End Page: 807
Language: English
PMCID: PMC8511200
DOI: 10.1002/gcc.22992
PROVIDER: scopus
PUBMED: 34392582
DOI/URL:

https://www.scopus.com/inward/record.uri?eid=2-s2.0-85113380680&doi=10.1002%2fgcc.22992&partnerID=40&md5=9b4546ef391172472414aa5d142e7ef1
Notes: Article reversed the name of author: Abhinita Mohanty; and misspelled the name as "Abhinta"-- Source: Scopus
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MSK Authors
  1. Meera Hameed
    281 Hameed
  2. Patrick J Boland
    160 Boland
  3. Edward A Athanasian
    75 Athanasian
  4. John H Healey
    547 Healey
  5. Nicola Fabbri
    64 Fabbri
  6. Abhinita Subhadarshin Mohanty
    39 Mohanty
  7. Ruth Kailey Ayitey Aryeequaye
    16 Aryeequaye
  8. Robert Sime Cimera
    28 Cimera
  9. Yanming Zhang
    199 Zhang
  10. Xiaoyun Wen
    1 Wen
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