Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features
Objectives Since the publication of the third edition, the WHO classification of tumors of hematopoietic and lymphoid disorders has introduced the disease entity of ‘myeloid/lymphoid neoplasms with eosinophilia and PDGFRB rearrangement’, in which the most common chromosomal abnormality is t(5;12) (q...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2022-12-01
|
| Series: | Hematology |
| Subjects: | |
| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2022.2117206 |
| _version_ | 1811276829187637248 |
|---|---|
| author | Zhan Su Xin Liu Weiyu Hu Jie Yang Xiangcong Yin Fang Hou Yaqi Wang Jinglian Zhang |
| author_facet | Zhan Su Xin Liu Weiyu Hu Jie Yang Xiangcong Yin Fang Hou Yaqi Wang Jinglian Zhang |
| author_sort | Zhan Su |
| collection | DOAJ |
| description | Objectives Since the publication of the third edition, the WHO classification of tumors of hematopoietic and lymphoid disorders has introduced the disease entity of ‘myeloid/lymphoid neoplasms with eosinophilia and PDGFRB rearrangement’, in which the most common chromosomal abnormality is t(5;12) (q32;p13.2), and this abnormality generates the ETV6::PDGFRB fusion gene. However, there have been patients with hematologic features and chromosomal abnormalities that are extremely similar to those carrying ETV6::PDGFRB fusion. These rare disorders harbor ETV6::ACSL6 fusion, and only sporadic cases have been reported at present.Methods We report a patient with chronic eosinophilic leukemia (CEL) carrying chromosome translocation t(5;12)(q32;p13.2), and we present the clinical features. In addition, we conducted a literature review to collect all reported cases and summarized the genetic and clinical profiling as well as the treatments and outcomes.Result In addition to our patient, a total of 19 cases have been previously reported, including 6 variants of ETV6::ACSL6 and 3 reciprocals. We identified a novel variant of the ETV6::ACSL6 transcript in our patient, and the breakpoint was flanked by exon 2 of ETV6 and exon 2 of ACSL6. The cellular morphology features consisted of myeloproliferative neoplasm (MPN); myelodysplastic/myeloproliferative neoplasm (MDS/MPN), specifically CEL; and acute myelocytic leukemia (AML). The treatments and outcomes varied greatly depending on the type of disease, although tyrosine kinase inhibitors (TKIs) were not effective.Conclusion In contrast to neoplasms with ETV6::PDGFRB fusion, myeloid neoplasms with ETV6::ACSL6 fusion have unique characteristics. |
| first_indexed | 2024-04-13T00:04:51Z |
| format | Article |
| id | doaj.art-8e6aa8e5eee2482a9863bbb9df18d7fb |
| institution | Directory Open Access Journal |
| issn | 1607-8454 |
| language | English |
| last_indexed | 2024-04-13T00:04:51Z |
| publishDate | 2022-12-01 |
| publisher | Taylor & Francis Group |
| record_format | Article |
| series | Hematology |
| spelling | doaj.art-8e6aa8e5eee2482a9863bbb9df18d7fb2022-12-22T03:11:16ZengTaylor & Francis GroupHematology1607-84542022-12-012711010101810.1080/16078454.2022.2117206Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical featuresZhan Su0Xin Liu1Weiyu Hu2Jie Yang3Xiangcong Yin4Fang Hou5Yaqi Wang6Jinglian Zhang7Department of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of ChinaDepartment of Stem Cell Transplantation, Blood Diseases Hospital & Institute of Hematology, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, People’s Republic of ChinaDepartment of Hepatobiliary Surgery, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of ChinaDepartment of Hematology Diagnosis Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of ChinaDepartment of Hematology Diagnosis Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of ChinaDepartment of Hematology Diagnosis Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of ChinaDepartment of Hematology Diagnosis Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of ChinaDepartment of Hematology, The Affiliated Hospital of Qingdao University, Qingdao, People’s Republic of ChinaObjectives Since the publication of the third edition, the WHO classification of tumors of hematopoietic and lymphoid disorders has introduced the disease entity of ‘myeloid/lymphoid neoplasms with eosinophilia and PDGFRB rearrangement’, in which the most common chromosomal abnormality is t(5;12) (q32;p13.2), and this abnormality generates the ETV6::PDGFRB fusion gene. However, there have been patients with hematologic features and chromosomal abnormalities that are extremely similar to those carrying ETV6::PDGFRB fusion. These rare disorders harbor ETV6::ACSL6 fusion, and only sporadic cases have been reported at present.Methods We report a patient with chronic eosinophilic leukemia (CEL) carrying chromosome translocation t(5;12)(q32;p13.2), and we present the clinical features. In addition, we conducted a literature review to collect all reported cases and summarized the genetic and clinical profiling as well as the treatments and outcomes.Result In addition to our patient, a total of 19 cases have been previously reported, including 6 variants of ETV6::ACSL6 and 3 reciprocals. We identified a novel variant of the ETV6::ACSL6 transcript in our patient, and the breakpoint was flanked by exon 2 of ETV6 and exon 2 of ACSL6. The cellular morphology features consisted of myeloproliferative neoplasm (MPN); myelodysplastic/myeloproliferative neoplasm (MDS/MPN), specifically CEL; and acute myelocytic leukemia (AML). The treatments and outcomes varied greatly depending on the type of disease, although tyrosine kinase inhibitors (TKIs) were not effective.Conclusion In contrast to neoplasms with ETV6::PDGFRB fusion, myeloid neoplasms with ETV6::ACSL6 fusion have unique characteristics.https://www.tandfonline.com/doi/10.1080/16078454.2022.2117206Myeloid neoplasmETV6::ACSL6fusion gene |
| spellingShingle | Zhan Su Xin Liu Weiyu Hu Jie Yang Xiangcong Yin Fang Hou Yaqi Wang Jinglian Zhang Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features Hematology Myeloid neoplasm ETV6::ACSL6 fusion gene |
| title | Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features |
| title_full | Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features |
| title_fullStr | Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features |
| title_full_unstemmed | Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features |
| title_short | Myeloid neoplasm with ETV6::ACSl6 fusion: landscape of molecular and clinical features |
| title_sort | myeloid neoplasm with etv6 acsl6 fusion landscape of molecular and clinical features |
| topic | Myeloid neoplasm ETV6::ACSL6 fusion gene |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2022.2117206 |
| work_keys_str_mv | AT zhansu myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures AT xinliu myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures AT weiyuhu myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures AT jieyang myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures AT xiangcongyin myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures AT fanghou myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures AT yaqiwang myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures AT jinglianzhang myeloidneoplasmwithetv6acsl6fusionlandscapeofmolecularandclinicalfeatures |