Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndrome
Acute myeloid leukemia (AML), which is most common in adults, is a challenging hematological malignancy. The occurrence and the progression of AML are often accompanied by various gene fusions and/or mutations. Herein, we report the first case of a TOR1AIP2::ETV6 fusion transcript with a translocati...
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Frontiers Media S.A.
2024-12-01
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| Series: | Frontiers in Oncology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fonc.2024.1466590/full |
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| author | Jun Xia Guanqun Yang Qingling Yu Ruiyi Zhang Ge Li Man Wang Hongli Sun Heng Chen Lingling Wang Ping Chen Kai-Li Gu Chao Sun |
| author_facet | Jun Xia Guanqun Yang Qingling Yu Ruiyi Zhang Ge Li Man Wang Hongli Sun Heng Chen Lingling Wang Ping Chen Kai-Li Gu Chao Sun |
| author_sort | Jun Xia |
| collection | DOAJ |
| description | Acute myeloid leukemia (AML), which is most common in adults, is a challenging hematological malignancy. The occurrence and the progression of AML are often accompanied by various gene fusions and/or mutations. Herein, we report the first case of a TOR1AIP2::ETV6 fusion transcript with a translocation of t(1;12)(q25;p13) in AML progressed from myelodysplastic syndrome (MDS) combined with an FLT3-ITD (internal tandem duplication) mutation. Further studies should focus on the biological functions of these novel chimeric products in disease onset and progression, as well as their potential as monitoring markers in disease regression. |
| format | Article |
| id | doaj-art-8adc0dcd58ec4b3bb63712acb43fe231 |
| institution | OA Journals |
| issn | 2234-943X |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Oncology |
| spelling | doaj-art-8adc0dcd58ec4b3bb63712acb43fe2312025-08-20T02:01:00ZengFrontiers Media S.A.Frontiers in Oncology2234-943X2024-12-011410.3389/fonc.2024.14665901466590Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndromeJun Xia0Guanqun Yang1Qingling Yu2Ruiyi Zhang3Ge Li4Man Wang5Hongli Sun6Heng Chen7Lingling Wang8Ping Chen9Kai-Li Gu10Chao Sun11Department of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, ChinaChangshu Hospital Affiliated to Soochow University, Changshu NO.1 People’s Hospital, Changshu, Jiangsu, ChinaDepartment of Hematology, Affiliated Jianhu Hospital of Nantong University Xinglin College, Yancheng, ChinaSuzhou Jsuniwell Medical Laboratory, Suzhou, ChinaSuzhou Jsuniwell Medical Laboratory, Suzhou, ChinaJiangsu Institute of Hematology, National Clinical Research Center for Hematologic Diseases, Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Suzhou, ChinaDepartment of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, ChinaDepartment of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, ChinaDepartment of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, ChinaSuzhou Jsuniwell Medical Laboratory, Suzhou, ChinaSuzhou Jsuniwell Medical Laboratory, Suzhou, ChinaDepartment of Hematology, Affiliated Wuxi People’s Hospital, Nanjing Medical University, Wuxi, ChinaAcute myeloid leukemia (AML), which is most common in adults, is a challenging hematological malignancy. The occurrence and the progression of AML are often accompanied by various gene fusions and/or mutations. Herein, we report the first case of a TOR1AIP2::ETV6 fusion transcript with a translocation of t(1;12)(q25;p13) in AML progressed from myelodysplastic syndrome (MDS) combined with an FLT3-ITD (internal tandem duplication) mutation. Further studies should focus on the biological functions of these novel chimeric products in disease onset and progression, as well as their potential as monitoring markers in disease regression.https://www.frontiersin.org/articles/10.3389/fonc.2024.1466590/fullacute myeloid leukemiagene fusionsTOR1AIP2::ETV6FLT3-ITDmutation |
| spellingShingle | Jun Xia Guanqun Yang Qingling Yu Ruiyi Zhang Ge Li Man Wang Hongli Sun Heng Chen Lingling Wang Ping Chen Kai-Li Gu Chao Sun Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndrome Frontiers in Oncology acute myeloid leukemia gene fusions TOR1AIP2::ETV6 FLT3-ITD mutation |
| title | Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndrome |
| title_full | Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndrome |
| title_fullStr | Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndrome |
| title_full_unstemmed | Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndrome |
| title_short | Case report: Identification of a novel TOR1AIP2::ETV6 transcript with FLT3-ITD mutation in acute myeloid leukemia progressed from myelodysplastic syndrome |
| title_sort | case report identification of a novel tor1aip2 etv6 transcript with flt3 itd mutation in acute myeloid leukemia progressed from myelodysplastic syndrome |
| topic | acute myeloid leukemia gene fusions TOR1AIP2::ETV6 FLT3-ITD mutation |
| url | https://www.frontiersin.org/articles/10.3389/fonc.2024.1466590/full |
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