RNA sequencing of myeloid sarcoma, shed light on myeloid sarcoma stratification.
RNA sequencing
myeloid sarcoma
risk stratification
Journal
Cancer medicine
ISSN: 2045-7634
Titre abrégé: Cancer Med
Pays: United States
ID NLM: 101595310
Informations de publication
Date de publication:
04 2023
04 2023
Historique:
revised:
11
01
2023
received:
30
06
2022
accepted:
17
01
2023
medline:
10
5
2023
pubmed:
15
3
2023
entrez:
14
3
2023
Statut:
ppublish
Résumé
Myeloid sarcoma (MS) is a rare, extramedullary tumor consisting of myeloid blasts. Little is known about the genetic background of MS and the prognostic value of genetic abnormalities in MS. In particular, the broad variety of gene fusions that occur in MS is marginally covered by traditional testing methods due to lack of fresh tumor specimens. Here, we analyzed the clinical and genetic features of 61 MS cases. We performed RNA sequencing (RNA-seq) on formalin-fixed paraffin-embedded (FFPE) or fresh samples to analyze fusion genes in 26 cases. In addition, we performed genetic abnormalities-based risk stratification using fusion genes and gene mutations. A total of 305 fusion genes were identified in 22 cases, including the following five recurrent fusion genes: RUNX1-RUNX1T1, CBFβ-MYH11, ETV6-MECOM, FUS-ERG, and PICALM-MLLT10. The prognosis in the adverse-risk group was significantly worse than that in the favorable/intermediate-risk group (median survival: 12 months vs. not reached; p = 0.0004). These results indicated the efficacy of RNA-seq using FFPE-derived RNA as a clinical routine for detecting fusion genes, which can be used as markers for risk stratification in MS.
Sections du résumé
BACKGROUND
Myeloid sarcoma (MS) is a rare, extramedullary tumor consisting of myeloid blasts. Little is known about the genetic background of MS and the prognostic value of genetic abnormalities in MS. In particular, the broad variety of gene fusions that occur in MS is marginally covered by traditional testing methods due to lack of fresh tumor specimens.
METHODS
Here, we analyzed the clinical and genetic features of 61 MS cases. We performed RNA sequencing (RNA-seq) on formalin-fixed paraffin-embedded (FFPE) or fresh samples to analyze fusion genes in 26 cases. In addition, we performed genetic abnormalities-based risk stratification using fusion genes and gene mutations.
RESULTS
A total of 305 fusion genes were identified in 22 cases, including the following five recurrent fusion genes: RUNX1-RUNX1T1, CBFβ-MYH11, ETV6-MECOM, FUS-ERG, and PICALM-MLLT10. The prognosis in the adverse-risk group was significantly worse than that in the favorable/intermediate-risk group (median survival: 12 months vs. not reached; p = 0.0004).
CONCLUSION
These results indicated the efficacy of RNA-seq using FFPE-derived RNA as a clinical routine for detecting fusion genes, which can be used as markers for risk stratification in MS.
Identifiants
pubmed: 36916780
doi: 10.1002/cam4.5654
pmc: PMC10166975
doi:
Substances chimiques
Transcription Factors
0
PICALM-MLLT10 fusion protein, human
0
Oncogene Proteins, Fusion
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
9156-9166Informations de copyright
© 2023 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.
Références
Am J Clin Pathol. 2020 Feb 8;153(3):333-341
pubmed: 31671434
Acta Haematol. 2018;140(2):97-104
pubmed: 30227397
J Mol Diagn. 2020 Mar;22(3):338-345
pubmed: 31866570
Histopathology. 2019 Aug;75(2):185-192
pubmed: 30916362
Blood. 2011 Oct 6;118(14):3785-93
pubmed: 21795742
J Clin Oncol. 1993 Apr;11(4):690-7
pubmed: 8478662
Int J Radiat Oncol Biol Phys. 2012 Apr 1;82(5):1816-22
pubmed: 21962486
Fly (Austin). 2012 Apr-Jun;6(2):80-92
pubmed: 22728672
Leuk Lymphoma. 2015 Jun;56(6):1698-703
pubmed: 25213180
Wiley Interdiscip Rev RNA. 2017 Jan;8(1):
pubmed: 27198714
Hum Pathol. 2003 Aug;34(8):809-13
pubmed: 14506644
Genome Biol. 2019 Oct 21;20(1):213
pubmed: 31639029
Bioinformatics. 2014 Apr 1;30(7):923-30
pubmed: 24227677
Leukemia. 2017 Aug;31(8):1661-1670
pubmed: 28484264
Leuk Lymphoma. 2018 Feb;59(2):501-504
pubmed: 28633614
Leuk Lymphoma. 2006 Dec;47(12):2527-41
pubmed: 17169797
Med Pediatr Oncol. 1998 Sep;31(3):144-9
pubmed: 9722895
Am J Surg Pathol. 2016 Nov;40(11):1473-1483
pubmed: 27631510
Int J Hematol. 2021 May;113(5):682-692
pubmed: 33511548
J Clin Oncol. 2008 Oct 20;26(30):4940-3
pubmed: 18606981
Leukemia. 2007 Jul;21(7):1566-70
pubmed: 17443224
Leukemia. 2003 Jun;17(6):1100-3
pubmed: 12764375
Leukemia. 2002 Oct;16(10):2072-7
pubmed: 12357359
Leuk Lymphoma. 2017 Apr;58(4):1008-1012
pubmed: 27659839
Leukemia. 2007 Feb;21(2):340-50
pubmed: 17170724
Hum Pathol. 2021 Feb;108:76-83
pubmed: 33232718
Nat Biotechnol. 2019 Aug;37(8):907-915
pubmed: 31375807
Haematologica. 2020 Jun;105(6):1552-1558
pubmed: 31467130
J Pediatr Hematol Oncol. 2003 Oct;25(10):760-8
pubmed: 14528097
Blood Adv. 2019 Oct 22;3(20):3157-3169
pubmed: 31648321
Blood Cancer J. 2021 Jun 16;11(6):112
pubmed: 34135310
Blood Cancer J. 2018 May 23;8(5):43
pubmed: 29789584
Br J Haematol. 2004 Sep;126(6):785-91
pubmed: 15352981
Nucleic Acids Res. 2010 Sep;38(16):e164
pubmed: 20601685
Am J Surg Pathol. 1997 Oct;21(10):1156-65
pubmed: 9331287
Histopathology. 1999 May;34(5):391-8
pubmed: 10231412
J Clin Oncol. 2000 Dec 1;18(23):3996-7
pubmed: 11099330
Cancer. 1981 Sep 15;48(6):1426-37
pubmed: 7023656
Blood Cancer J. 2017 Aug 25;7(8):e592
pubmed: 28841208
Eur J Haematol. 2018 Jun;100(6):603-612
pubmed: 29532520
Leuk Res. 2004 Nov;28(11):1165-9
pubmed: 15380340
Acta Haematol. 2009;122(4):238-46
pubmed: 19887783
Leukemia. 2015 Oct;29(10):2113-6
pubmed: 25787914
Blood. 2017 Jan 26;129(4):424-447
pubmed: 27895058
Cancer Med. 2023 Apr;12(8):9156-9166
pubmed: 36916780
Blood Res. 2017 Sep;52(3):184-192
pubmed: 29043233
Genome Res. 2012 Mar;22(3):568-76
pubmed: 22300766
Bioinformatics. 2009 Aug 15;25(16):2078-9
pubmed: 19505943
Oxf Med Case Reports. 2016 Jan 13;2016(1):4-8
pubmed: 26770812
Curr Opin Hematol. 2020 Mar;27(2):88-94
pubmed: 31904666
Am J Hematol. 2016 Jun;91(4):379-84
pubmed: 26718745
Blood. 1998 Jul 15;92(2):574-88
pubmed: 9657758
Proc Natl Acad Sci U S A. 2020 Aug 18;117(33):20117-20126
pubmed: 32747558
Zhonghua Yi Xue Za Zhi. 2019 Oct 29;99(40):3145-3151
pubmed: 31694105