A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH and cytogenetics
(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
- Ibstedt, Sebastian ; de Mattos, Camila Bedeschi Rego LU ; Köster, Jan LU and Mertens, Fredrik LU
- organization
- publishing date
- 2023
- 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
- 2024-09-15 21:17:12
@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}}, }