ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes
Abstract Background ETV6-ACSL6 is a fusion gene rarely reported in myeloid malignancies, and its clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood. Results Sixteen patients with the ETV6-ACSL6 fusion gene were identified, with a median age of 50 yea...
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| Format: | Article |
| Language: | English |
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BMC
2020-07-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13023-020-01478-6 |
| _version_ | 1828464500015104000 |
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| author | Xia Wu Hao Cai Yu Qiu Jian Li Dao-bin Zhou Xin-xin Cao |
| author_facet | Xia Wu Hao Cai Yu Qiu Jian Li Dao-bin Zhou Xin-xin Cao |
| author_sort | Xia Wu |
| collection | DOAJ |
| description | Abstract Background ETV6-ACSL6 is a fusion gene rarely reported in myeloid malignancies, and its clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood. Results Sixteen patients with the ETV6-ACSL6 fusion gene were identified, with a median age of 50 years. Twelve patients were male. Clinical diagnoses included chronic eosinophilic leukemia, not otherwise specified, acute myeloid leukemia, and other types of myeloproliferative and myelodysplastic disorders. Ten out of 12 patients had increased levels of eosinophils, and four out of five had increased levels of basophils in peripheral blood. Treatment with tyrosine kinase inhibitors was ineffective. The prognosis of the patients was poor, with seven patients dying within 1 year. Conclusions Patients with the ETV6-ACSL6 fusion gene mainly present with myeloproliferative and myelodysplastic disorders, typically with increased eosinophils and/or basophils and poor survival. Intensive therapies such as allogenic stem cell transplantation should be an initial consideration for eligible patients. |
| first_indexed | 2024-12-11T03:15:29Z |
| format | Article |
| id | doaj.art-cc156e047aeb47efaaa6e28994f5a74b |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-11T03:15:29Z |
| publishDate | 2020-07-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-cc156e047aeb47efaaa6e28994f5a74b2022-12-22T01:22:46ZengBMCOrphanet Journal of Rare Diseases1750-11722020-07-011511610.1186/s13023-020-01478-6ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomesXia Wu0Hao Cai1Yu Qiu2Jian Li3Dao-bin Zhou4Xin-xin Cao5Department of Hematology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesDepartment of Hematology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesDepartment of Hematology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesDepartment of Hematology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesDepartment of Hematology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesDepartment of Hematology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical SciencesAbstract Background ETV6-ACSL6 is a fusion gene rarely reported in myeloid malignancies, and its clinical characteristics, proper treatment strategies, and effect on prognosis are poorly understood. Results Sixteen patients with the ETV6-ACSL6 fusion gene were identified, with a median age of 50 years. Twelve patients were male. Clinical diagnoses included chronic eosinophilic leukemia, not otherwise specified, acute myeloid leukemia, and other types of myeloproliferative and myelodysplastic disorders. Ten out of 12 patients had increased levels of eosinophils, and four out of five had increased levels of basophils in peripheral blood. Treatment with tyrosine kinase inhibitors was ineffective. The prognosis of the patients was poor, with seven patients dying within 1 year. Conclusions Patients with the ETV6-ACSL6 fusion gene mainly present with myeloproliferative and myelodysplastic disorders, typically with increased eosinophils and/or basophils and poor survival. Intensive therapies such as allogenic stem cell transplantation should be an initial consideration for eligible patients.http://link.springer.com/article/10.1186/s13023-020-01478-6ETV6-ACSL6 fusion geneChronic eosinophilic leukemiaMyelodysplastic syndromeMyeloproliferative neoplasms |
| spellingShingle | Xia Wu Hao Cai Yu Qiu Jian Li Dao-bin Zhou Xin-xin Cao ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes Orphanet Journal of Rare Diseases ETV6-ACSL6 fusion gene Chronic eosinophilic leukemia Myelodysplastic syndrome Myeloproliferative neoplasms |
| title | ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes |
| title_full | ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes |
| title_fullStr | ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes |
| title_full_unstemmed | ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes |
| title_short | ETV6-ACSL6 fusion gene in myeloid neoplasms: clinical spectrum, current practice, and outcomes |
| title_sort | etv6 acsl6 fusion gene in myeloid neoplasms clinical spectrum current practice and outcomes |
| topic | ETV6-ACSL6 fusion gene Chronic eosinophilic leukemia Myelodysplastic syndrome Myeloproliferative neoplasms |
| url | http://link.springer.com/article/10.1186/s13023-020-01478-6 |
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