PMID- 36379683
OWN - NLM
STAT- MEDLINE
DCOM- 20230109
LR  - 20230415
IS  - 1098-2264 (Electronic)
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 62
IP  - 3
DP  - 2023 Mar
TI  - A cryptic EWSR1::DDIT3 fusion in myxoid liposarcoma: Potential pitfalls with FISH 
      and cytogenetics.
PG  - 167-170
LID - 10.1002/gcc.23103 [doi]
AB  - 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.
CI  - (c) 2022 The Authors. Genes, Chromosomes and Cancer published by Wiley Periodicals 
      LLC.
FAU - Ibstedt, Sebastian
AU  - Ibstedt S
AUID- ORCID: 0000-0001-5097-9243
AD  - Department of Clinical Genetics and Pathology, Division of Laboratory Medicine, 
      Lund, Sweden.
FAU - de Mattos, Camila Bedeschi Rego
AU  - de Mattos CBR
AD  - Orthopedics, Department of Clinical Sciences Lund, Skane University Hospital, 
      Lund, Sweden.
FAU - Koster, Jan
AU  - Koster J
AD  - Department of Clinical Genetics and Pathology, Division of Laboratory Medicine, 
      Lund, Sweden.
AD  - Division of Clinical Genetics, Department of Laboratory Medicine, Lund 
      University, Lund, Sweden.
FAU - Mertens, Fredrik
AU  - Mertens F
AD  - Department of Clinical Genetics and Pathology, Division of Laboratory Medicine, 
      Lund, Sweden.
AD  - Division of Clinical Genetics, Department of Laboratory Medicine, Lund 
      University, Lund, Sweden.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20221124
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (DDIT3 protein, human)
RN  - 147336-12-7 (Transcription Factor CHOP)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (RNA-Binding Protein EWS)
SB  - IM
MH  - Humans
MH  - Adult
MH  - *Liposarcoma, Myxoid/genetics/pathology
MH  - In Situ Hybridization, Fluorescence
MH  - Base Sequence
MH  - Oncogene Proteins, Fusion/genetics/metabolism
MH  - *Liposarcoma/genetics
MH  - Transcription Factor CHOP/genetics
MH  - RNA-Binding Protein EWS/genetics
PMC - PMC10100227
OTO - NOTNLM
OT  - FISH
OT  - cryptic
OT  - fusion
OT  - liposarcoma
OT  - transcriptional orientation
EDAT- 2022/11/16 06:00
MHDA- 2023/01/10 06:00
PMCR- 2023/04/13
CRDT- 2022/11/15 21:23
PHST- 2022/11/07 00:00 [revised]
PHST- 2022/10/05 00:00 [received]
PHST- 2022/11/11 00:00 [accepted]
PHST- 2022/11/16 06:00 [pubmed]
PHST- 2023/01/10 06:00 [medline]
PHST- 2022/11/15 21:23 [entrez]
PHST- 2023/04/13 00:00 [pmc-release]
AID - GCC23103 [pii]
AID - 10.1002/gcc.23103 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2023 Mar;62(3):167-170. doi: 10.1002/gcc.23103. Epub 
      2022 Nov 24.