Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature
FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Gagnon, Marie-France [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2022transfer abstract |
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| Übergeordnetes Werk: |
Enthalten in: Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial - Yao, Kenshi ELSEVIER, 2015, Amsterdam [u.a.] |
|---|---|
| Übergeordnetes Werk: |
volume:58 ; year:2022 ; pages:0 |
| Links: |
|---|
| DOI / URN: |
10.1016/j.anndiagpath.2022.151942 |
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| 520 | |a Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. | ||
| 520 | |a Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. | ||
| 700 | 1 | |a Smadbeck, James B. |4 oth | |
| 700 | 1 | |a Vasmatzis, George |4 oth | |
| 700 | 1 | |a Olteanu, Horatiu |4 oth | |
| 700 | 1 | |a Wood, Adam J. |4 oth | |
| 700 | 1 | |a Lewis, Dakota J. |4 oth | |
| 700 | 1 | |a Sharma, Neeraj |4 oth | |
| 700 | 1 | |a Meyer, Reid G. |4 oth | |
| 700 | 1 | |a Greipp, Patricia T. |4 oth | |
| 700 | 1 | |a Xu, Xinjie |4 oth | |
| 700 | 1 | |a Hoppman, Nicole L. |4 oth | |
| 700 | 1 | |a Baughn, Linda B. |4 oth | |
| 700 | 1 | |a Ketterling, Rhett P. |4 oth | |
| 700 | 1 | |a Chiu, April |4 oth | |
| 700 | 1 | |a Peterson, Jess F. |4 oth | |
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10.1016/j.anndiagpath.2022.151942 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001772.pica (DE-627)ELV057698481 (ELSEVIER)S1092-9134(22)00044-2 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Gagnon, Marie-France verfasserin aut Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Smadbeck, James B. oth Vasmatzis, George oth Olteanu, Horatiu oth Wood, Adam J. oth Lewis, Dakota J. oth Sharma, Neeraj oth Meyer, Reid G. oth Greipp, Patricia T. oth Xu, Xinjie oth Hoppman, Nicole L. oth Baughn, Linda B. oth Ketterling, Rhett P. oth Chiu, April oth Peterson, Jess F. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:58 year:2022 pages:0 https://doi.org/10.1016/j.anndiagpath.2022.151942 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 58 2022 0 |
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10.1016/j.anndiagpath.2022.151942 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001772.pica (DE-627)ELV057698481 (ELSEVIER)S1092-9134(22)00044-2 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Gagnon, Marie-France verfasserin aut Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Smadbeck, James B. oth Vasmatzis, George oth Olteanu, Horatiu oth Wood, Adam J. oth Lewis, Dakota J. oth Sharma, Neeraj oth Meyer, Reid G. oth Greipp, Patricia T. oth Xu, Xinjie oth Hoppman, Nicole L. oth Baughn, Linda B. oth Ketterling, Rhett P. oth Chiu, April oth Peterson, Jess F. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:58 year:2022 pages:0 https://doi.org/10.1016/j.anndiagpath.2022.151942 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 58 2022 0 |
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10.1016/j.anndiagpath.2022.151942 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001772.pica (DE-627)ELV057698481 (ELSEVIER)S1092-9134(22)00044-2 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Gagnon, Marie-France verfasserin aut Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Smadbeck, James B. oth Vasmatzis, George oth Olteanu, Horatiu oth Wood, Adam J. oth Lewis, Dakota J. oth Sharma, Neeraj oth Meyer, Reid G. oth Greipp, Patricia T. oth Xu, Xinjie oth Hoppman, Nicole L. oth Baughn, Linda B. oth Ketterling, Rhett P. oth Chiu, April oth Peterson, Jess F. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:58 year:2022 pages:0 https://doi.org/10.1016/j.anndiagpath.2022.151942 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 58 2022 0 |
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10.1016/j.anndiagpath.2022.151942 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001772.pica (DE-627)ELV057698481 (ELSEVIER)S1092-9134(22)00044-2 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Gagnon, Marie-France verfasserin aut Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Smadbeck, James B. oth Vasmatzis, George oth Olteanu, Horatiu oth Wood, Adam J. oth Lewis, Dakota J. oth Sharma, Neeraj oth Meyer, Reid G. oth Greipp, Patricia T. oth Xu, Xinjie oth Hoppman, Nicole L. oth Baughn, Linda B. oth Ketterling, Rhett P. oth Chiu, April oth Peterson, Jess F. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:58 year:2022 pages:0 https://doi.org/10.1016/j.anndiagpath.2022.151942 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 58 2022 0 |
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10.1016/j.anndiagpath.2022.151942 doi /cbs_pica/cbs_olc/import_discovery/elsevier/einzuspielen/GBV00000000001772.pica (DE-627)ELV057698481 (ELSEVIER)S1092-9134(22)00044-2 DE-627 ger DE-627 rakwb eng 610 VZ 600 670 VZ 51.00 bkl Gagnon, Marie-France verfasserin aut Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature 2022transfer abstract nicht spezifiziert zzz rdacontent nicht spezifiziert z rdamedia nicht spezifiziert zu rdacarrier Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. Smadbeck, James B. oth Vasmatzis, George oth Olteanu, Horatiu oth Wood, Adam J. oth Lewis, Dakota J. oth Sharma, Neeraj oth Meyer, Reid G. oth Greipp, Patricia T. oth Xu, Xinjie oth Hoppman, Nicole L. oth Baughn, Linda B. oth Ketterling, Rhett P. oth Chiu, April oth Peterson, Jess F. oth Enthalten in Elsevier Yao, Kenshi ELSEVIER Su1557 Development of an E-Learning System for the Endoscopic Diagnosis of Early Gastric Cancer: an International Multicenter Randomized Controlled Trial 2015 Amsterdam [u.a.] (DE-627)ELV013464221 volume:58 year:2022 pages:0 https://doi.org/10.1016/j.anndiagpath.2022.151942 Volltext GBV_USEFLAG_U GBV_ELV SYSFLAG_U GBV_ILN_40 GBV_ILN_72 GBV_ILN_2003 51.00 Werkstoffkunde: Allgemeines VZ AR 58 2022 0 |
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Gagnon, Marie-France @@aut@@ Smadbeck, James B. @@oth@@ Vasmatzis, George @@oth@@ Olteanu, Horatiu @@oth@@ Wood, Adam J. @@oth@@ Lewis, Dakota J. @@oth@@ Sharma, Neeraj @@oth@@ Meyer, Reid G. @@oth@@ Greipp, Patricia T. @@oth@@ Xu, Xinjie @@oth@@ Hoppman, Nicole L. @@oth@@ Baughn, Linda B. @@oth@@ Ketterling, Rhett P. @@oth@@ Chiu, April @@oth@@ Peterson, Jess F. @@oth@@ |
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identification of ewsr1 rearrangements in patients with immature hematopoietic neoplasms: a case series and review of literature |
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Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature |
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Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. |
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Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. |
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Rearrangement of the EWSR1 gene (22q12.2) is a well-recognized genetic lesion in bone and soft tissue tumors. However, few reports have suggested that EWSR1 rearrangements may also occur in the setting of hematopoietic tumors. We herein describe two cases of immature hematopoietic neoplasms presenting with EWSR1 rearrangements. The first occurred in a 41-year-old female diagnosed with mixed-phenotype acute leukemia, B/T/myeloid, in which conventional chromosome analysis revealed a t(2;22)(q35;q12). Further analysis with whole genome sequencing revealed that this rearrangement led to an EWSR1::FEV gene fusion. The second case was identified in an 18-year-old male with a high-grade B-cell lineage malignant neoplasm with immature features in which conventional chromosome analysis revealed a t(17;22)(q25;q12). Mate-pair sequencing, a next generation sequencing-based assay, was performed and revealed three in-frame chimeric gene fusions involving the EWSR1, TEF and STRADA gene regions. This report further expands the repertoire of hematopoietic neoplasms with EWSR1 fusions and partner genes involved in these rearrangements. |
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Identification of EWSR1 rearrangements in patients with immature hematopoietic neoplasms: A case series and review of literature |
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