Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas
Abstract
:1. Introduction
2. Materials and Methods
3. Results
3.1. Summary of the Patient Cohort in This Study
3.2. Patient 3
3.3. Patient 4
- NanoString gene fusion panel revealed an EWSR1::FLI1 fusion involving exon 10 of EWSR1 and exon 5 of FLI1 (Figure 9).
3.4. Patient 8
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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ID | Ewing Sarcoma (Location) | Conventional Chromosome Analysis (Karyotype of Abnormal Clones) | FISH (Positive for) | Gene Fusion |
---|---|---|---|---|
1 | L. chest wall | 49,XX,+4,+8,t(11;22)(q24;q12),+20/96-99,slx2 | EWSR1 | EWSR1::FLI |
2 | R. iliac crest | 49,XX,+5,+8,+8,t(11;22)(q24;q12) | EWSR1 | EWSR1::FLI |
3 | R. humerus & metastatic lung | 48,XY,del(9)(q34),t(9;11;22)(q22;q24;q12),add(12)(q24.1),+16, +18,der(18)t(1;18)(q11;p11.3)x2,der(21)t(1;21)(q11;p11.2)/ 49,sl,+13/50,sdl,+20 | EWSR1 & EWSR1::FLI1 | EWSR1::FLI |
4 | R. femur | 46,XY,t(4;22)(q35;q12),+8,-10,+12,-16/50,sl,+4,+8,+10,+16 | EWSR1 & EWSR1::FLI1 | EWSR1::FLI |
5 | L. pubic bone | 96-104,XXXX,add(1)(p12),i(1)(q10),+2,+2,+4,+4,+8,+8,+8,+8,+9, t(11;22)(q24;q12)x2,der(16)t(12;16)(q13;q24)x2,+20,+20 | EWSR1 | EWSR1::FLI |
6 | R. lung & metastatic lymph node | 47,XX,+1,+1,der(1;15)(q10;q10)x2,add(2)(q35),del(5)(q31),t(11;22)(q24;q12), +15 | EWSR1 | EWSR1::FLI |
7 | L. femur | 51,XX,+2,+5,+7,+8,t(11;22)(q24;q12),+20 at diagnosis | EWSR1 | EWSR1::FLI |
51,XX,+2,+5,+7,+8,del(10)(q24q25),t(11;22)(q24;q12),+20 at follow-up | EWSR1 | EWSR1::FLI | ||
8 | L. chest wall | 47,XY,+8,der(22)add(22)(p11.2)del(22)(q12) | EWSR1 * | EWSR1::ERG |
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Zou, Y.S.; Morsberger, L.; Hardy, M.; Ghabrial, J.; Stinnett, V.; Murry, J.B.; Long, P.; Kim, A.; Pratilas, C.A.; Llosa, N.J.; et al. Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas. Genes 2023, 14, 1139. https://doi.org/10.3390/genes14061139
Zou YS, Morsberger L, Hardy M, Ghabrial J, Stinnett V, Murry JB, Long P, Kim A, Pratilas CA, Llosa NJ, et al. Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas. Genes. 2023; 14(6):1139. https://doi.org/10.3390/genes14061139
Chicago/Turabian StyleZou, Ying S., Laura Morsberger, Melanie Hardy, Jen Ghabrial, Victoria Stinnett, Jaclyn B. Murry, Patty Long, Andrew Kim, Christine A. Pratilas, Nicolas J. Llosa, and et al. 2023. "Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas" Genes 14, no. 6: 1139. https://doi.org/10.3390/genes14061139