PMID- 37738543
OWN - NLM
STAT- MEDLINE
DCOM- 20230925
LR  - 20240214
IS  - 2473-4284 (Electronic)
IS  - 2473-4284 (Linking)
VI  - 7
DP  - 2023 Sep
TI  - Loss of Chromosome 3q Is a Prognostic Marker in Fusion-Negative Rhabdomyosarcoma.
PG  - e2300037
LID - 10.1200/PO.23.00037 [doi]
LID - e2300037
AB  - PURPOSE: Soft tissue sarcomas (STS) are rare mesenchymal neoplasms that 
      frequently show complex chromosomal aberrations such as amplifications or 
      deletions of DNA sequences or even whole chromosomes. We recently found that gain 
      of chromosome (chr) 8 is associated with worse overall survival (OS) in STS as a 
      group. We therefore aimed to investigate the overall copy number profile of 
      rhabdomyosarcoma (RMS) to evaluate for prognostic signatures. METHODS: 
      Fluorescence in situ hybridization (FISH) testing was performed on a cohort of 
      STS to assess for chr8 gain. Copy number variation (CNV) data from the National 
      Cancer Institute were analyzed to assess for prognostically significant CNV 
      aberrations in FOXO1 fusion-negative (FN)- versus fusion-positive (FP)-RMS. FISH 
      testing was performed on a cohort of FN-RMS to assess for chr3q loss and 
      correlate with outcomes. RESULTS: Chr8 gain is a highly prevalent CNV in 
      embryonal RMS and shows slightly improved prognosis. Meanwhile, loss of chr3q was 
      associated with worse outcome in FN-RMS compared with FP-RMS. CONCLUSION: The 
      pathogenesis of STS including FN-RMS remains poorly understood, emphasizing the 
      need for new therapeutic advances and adequate risk stratification. Our data 
      demonstrate that loss of chr3q is associated with poor OS in FN-RMS, supporting 
      it as an important tool for risk stratification.
FAU - Dehner, Carina A
AU  - Dehner CA
AUID- ORCID: 0000-0001-5214-4813
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St Louis, MO.
AD  - Department of Pathology/Dermatopathology, Indiana University, Indianapolis, IN.
FAU - Bell, Robert C
AU  - Bell RC
AUID- ORCID: 0000-0003-0427-2567
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St Louis, MO.
AD  - Department of Pathology, University of Michigan, Ann Arbor, MI.
FAU - Cao, Yang
AU  - Cao Y
AD  - Division of Oncology, Washington University School of Medicine, St Louis, MO.
FAU - He, Kevin
AU  - He K
AUID- ORCID: 0000-0003-2642-7830
AD  - Division of Oncology, Washington University School of Medicine, St Louis, MO.
FAU - Chrisinger, John S A
AU  - Chrisinger JSA
AUID- ORCID: 0000-0002-7138-0923
AD  - Department of Pathology and Immunology, Washington University School of Medicine, 
      St Louis, MO.
FAU - Armstrong, Amy E
AU  - Armstrong AE
AUID- ORCID: 0000-0002-7784-0476
AD  - Division of Pediatric Hematology/Oncology, Washington University School of 
      Medicine, St Louis, MO.
FAU - Yohe, Marielle
AU  - Yohe M
AUID- ORCID: 0000-0001-5356-9426
AD  - Center for Cancer Research, National Cancer Institute, National Institutes of 
      Health, Bethesda, MD.
FAU - Shern, Jack
AU  - Shern J
AUID- ORCID: 0000-0001-5579-7625
AD  - Center for Cancer Research, National Cancer Institute, Bethesda, MD.
FAU - Hirbe, Angela C
AU  - Hirbe AC
AUID- ORCID: 0000-0003-1719-0771
AD  - Division of Oncology, Washington University School of Medicine, St Louis, MO.
LA  - eng
GR  - C5066/A10399/CRUK_/Cancer Research UK/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - JCO Precis Oncol
JT  - JCO precision oncology
JID - 101705370
SB  - IM
MH  - Humans
MH  - *DNA Copy Number Variations
MH  - In Situ Hybridization, Fluorescence
MH  - Prognosis
MH  - *Rhabdomyosarcoma/diagnosis/genetics
MH  - Chromosomes
PMC - PMC10861018
COIS- The following represents disclosure information provided by authors of this 
      manuscript. All relationships are considered compensated unless otherwise noted. 
      Relationships are self-held unless noted. I = Immediate Family Member, Inst = My 
      Institution. Relationships may not relate to the subject matter of this 
      manuscript. For more information about ASCO's conflict of interest policy, please 
      refer to www.asco.org/rwc or ascopubs.org/po/author-center. Open Payments is a 
      public database containing information reported by companies about payments made 
      to US-licensed physicians (Open Payments).
EDAT- 2023/09/22 18:42
MHDA- 2023/09/25 06:42
PMCR- 2023/09/22
CRDT- 2023/09/22 16:03
PHST- 2023/09/25 06:42 [medline]
PHST- 2023/09/22 18:42 [pubmed]
PHST- 2023/09/22 16:03 [entrez]
PHST- 2023/09/22 00:00 [pmc-release]
AID - PO.23.00037 [pii]
AID - 10.1200/PO.23.00037 [doi]
PST - ppublish
SO  - JCO Precis Oncol. 2023 Sep;7:e2300037. doi: 10.1200/PO.23.00037.