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A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH and cytogenetics

Ibstedt, Sebastian ; de Mattos, Camila Bedeschi Rego LU orcid ; Köster, Jan LU and Mertens, Fredrik LU (2023) In Genes Chromosomes and Cancer 62(3). p.167-170
Abstract

Myxoid liposarcoma (MLS) is molecularly characterized by fusions involving the DDIT3 gene in chromosome band 12q13; the fusion partner is FUS in band 16p11 in 90–95% of the cases and EWSR1 in band 22q12 in the remaining 5–10%. Hence, molecular studies, often fluorescence in situ hybridization (FISH) for DDIT3 rearrangement, are useful for establishing a correct diagnosis. Although all MLS tumors should have DDIT3 fusions, it is important to be aware of reasons for potential false-negative results. We here present a case of MLS that was negative for FISH for DDIT3, that showed an unexpected t(11;22) at G-banding, but that displayed a characteristic EWSR1::DDIT3 fusion at RNA-sequencing. The results suggest that neoplasia-associated... (More)

Myxoid liposarcoma (MLS) is molecularly characterized by fusions involving the DDIT3 gene in chromosome band 12q13; the fusion partner is FUS in band 16p11 in 90–95% of the cases and EWSR1 in band 22q12 in the remaining 5–10%. Hence, molecular studies, often fluorescence in situ hybridization (FISH) for DDIT3 rearrangement, are useful for establishing a correct diagnosis. Although all MLS tumors should have DDIT3 fusions, it is important to be aware of reasons for potential false-negative results. We here present a case of MLS that was negative for FISH for DDIT3, that showed an unexpected t(11;22) at G-banding, but that displayed a characteristic EWSR1::DDIT3 fusion at RNA-sequencing. The results suggest that neoplasia-associated fusions that, due to the transcriptional orientations of the two genes involved, cannot arise through only two double-strand breaks are more likely to be associated with negative FISH-findings and unexpected karyotypes.

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author
; ; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
cryptic, FISH, fusion, liposarcoma, transcriptional orientation
in
Genes Chromosomes and Cancer
volume
62
issue
3
pages
4 pages
publisher
John Wiley & Sons Inc.
external identifiers
  • scopus:85143428609
  • pmid:36379683
ISSN
1045-2257
DOI
10.1002/gcc.23103
language
English
LU publication?
yes
id
73f4e10c-91d1-4160-a94f-3f333b1e08ea
date added to LUP
2023-01-30 11:48:48
date last changed
2024-06-09 12:14:11
@article{73f4e10c-91d1-4160-a94f-3f333b1e08ea,
  abstract     = {{<p>Myxoid liposarcoma (MLS) is molecularly characterized by fusions involving the DDIT3 gene in chromosome band 12q13; the fusion partner is FUS in band 16p11 in 90–95% of the cases and EWSR1 in band 22q12 in the remaining 5–10%. Hence, molecular studies, often fluorescence in situ hybridization (FISH) for DDIT3 rearrangement, are useful for establishing a correct diagnosis. Although all MLS tumors should have DDIT3 fusions, it is important to be aware of reasons for potential false-negative results. We here present a case of MLS that was negative for FISH for DDIT3, that showed an unexpected t(11;22) at G-banding, but that displayed a characteristic EWSR1::DDIT3 fusion at RNA-sequencing. The results suggest that neoplasia-associated fusions that, due to the transcriptional orientations of the two genes involved, cannot arise through only two double-strand breaks are more likely to be associated with negative FISH-findings and unexpected karyotypes.</p>}},
  author       = {{Ibstedt, Sebastian and de Mattos, Camila Bedeschi Rego and Köster, Jan and Mertens, Fredrik}},
  issn         = {{1045-2257}},
  keywords     = {{cryptic; FISH; fusion; liposarcoma; transcriptional orientation}},
  language     = {{eng}},
  number       = {{3}},
  pages        = {{167--170}},
  publisher    = {{John Wiley & Sons Inc.}},
  series       = {{Genes Chromosomes and Cancer}},
  title        = {{A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH and cytogenetics}},
  url          = {{http://dx.doi.org/10.1002/gcc.23103}},
  doi          = {{10.1002/gcc.23103}},
  volume       = {{62}},
  year         = {{2023}},
}