Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosis
Objectives Acute myeloid leukemia (AML) with ETV6::CHIC2 and basophilia is rare in hematologic malignancies with poor prognosis. Due to the small number of clinical cases, it is misdiagnosed and missed frequently, and it is necessary to explore laboratory detection for accurate diagnosis.Methods We...
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Taylor & Francis Group
2024-12-01
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| Series: | Hematology |
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| Online Access: | https://www.tandfonline.com/doi/10.1080/16078454.2024.2381170 |
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| author | Li Ma Yun Yue Xia Zhang Zhongfeng Wu Wei Wang Weiguo Wang |
| author_facet | Li Ma Yun Yue Xia Zhang Zhongfeng Wu Wei Wang Weiguo Wang |
| author_sort | Li Ma |
| collection | DOAJ |
| description | Objectives Acute myeloid leukemia (AML) with ETV6::CHIC2 and basophilia is rare in hematologic malignancies with poor prognosis. Due to the small number of clinical cases, it is misdiagnosed and missed frequently, and it is necessary to explore laboratory detection for accurate diagnosis.Methods We report a case of AML with ETV6::CHIC2 and basophilia by morphological screening, immunotyping with precise gating, interpretation of FISH results, and RNA transcriptome sequencing, thus laying the accurate diagnosis for clinical treatment.Results We confirmed a rare case of AML with ETV6::CHIC2 rather than FIP1L1::PDGFRA by morphological analysis, correct immunophenotyping via precise gating, rejecting one-sided view of FISH positive result and targeted RNA sequencing. Precise analysis and more advanced means avoid misdiagnosis and missed frequently. After accurate diagnosis, venetoclax and decitabine therapy were given instead of imatinib; eventually, the patient achieved a relatively good effect.Discussion Immunophenotype analysis is necessary to detect the expression of CD7 when encountering pseudo-lymphocytes with multilineage dysplasia and basophilia. FISH and RT–PCR are still indispensable means of diagnosis of fusion genes in hematologic malignancies but can only detect a limited number of known partner genes and fusion genes with known break points. NGS can achieve sequence analysis indiscriminately and detect all fusion transcripts theoretically, greatly improving the detection range. NGS sequencing is required for t(4;12)(q11;p13) in AML that are not accompanied by eosinophilia. |
| format | Article |
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| institution | DOAJ |
| issn | 1607-8454 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Taylor & Francis Group |
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| series | Hematology |
| spelling | doaj-art-39e8fbb0c1de44d58f2f15801c650ae12025-08-20T02:50:19ZengTaylor & Francis GroupHematology1607-84542024-12-0129110.1080/16078454.2024.2381170Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosisLi Ma0Yun Yue1Xia Zhang2Zhongfeng Wu3Wei Wang4Weiguo Wang5Department of Clinical Laboratory, Fuyang People’s Hospital, Fuyang, People’s Republic of ChinaDepartment of Clinical Laboratory, Fuyang People’s Hospital, Fuyang, People’s Republic of ChinaDepartment of Clinical Laboratory, Fuyang People’s Hospital, Fuyang, People’s Republic of ChinaDepartment of Clinical Laboratory, Fuyang People’s Hospital, Fuyang, People’s Republic of ChinaDepartment of Clinical Laboratory, Fuyang People’s Hospital, Fuyang, People’s Republic of ChinaDepartment of Clinical Laboratory, Fuyang People’s Hospital, Fuyang, People’s Republic of ChinaObjectives Acute myeloid leukemia (AML) with ETV6::CHIC2 and basophilia is rare in hematologic malignancies with poor prognosis. Due to the small number of clinical cases, it is misdiagnosed and missed frequently, and it is necessary to explore laboratory detection for accurate diagnosis.Methods We report a case of AML with ETV6::CHIC2 and basophilia by morphological screening, immunotyping with precise gating, interpretation of FISH results, and RNA transcriptome sequencing, thus laying the accurate diagnosis for clinical treatment.Results We confirmed a rare case of AML with ETV6::CHIC2 rather than FIP1L1::PDGFRA by morphological analysis, correct immunophenotyping via precise gating, rejecting one-sided view of FISH positive result and targeted RNA sequencing. Precise analysis and more advanced means avoid misdiagnosis and missed frequently. After accurate diagnosis, venetoclax and decitabine therapy were given instead of imatinib; eventually, the patient achieved a relatively good effect.Discussion Immunophenotype analysis is necessary to detect the expression of CD7 when encountering pseudo-lymphocytes with multilineage dysplasia and basophilia. FISH and RT–PCR are still indispensable means of diagnosis of fusion genes in hematologic malignancies but can only detect a limited number of known partner genes and fusion genes with known break points. NGS can achieve sequence analysis indiscriminately and detect all fusion transcripts theoretically, greatly improving the detection range. NGS sequencing is required for t(4;12)(q11;p13) in AML that are not accompanied by eosinophilia.https://www.tandfonline.com/doi/10.1080/16078454.2024.2381170Acute myeloid leukemiaETV6::CHIC2; basophiliaflow cytometryETV6::PDGFRANext Generation Sequencingimmunophenotype |
| spellingShingle | Li Ma Yun Yue Xia Zhang Zhongfeng Wu Wei Wang Weiguo Wang Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosis Hematology Acute myeloid leukemia ETV6::CHIC2; basophilia flow cytometry ETV6::PDGFRA Next Generation Sequencing immunophenotype |
| title | Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosis |
| title_full | Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosis |
| title_fullStr | Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosis |
| title_full_unstemmed | Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosis |
| title_short | Acute myeloid leukemia with ETV6::CHIC2 fusion gene: ‘Pitfalls’ in diagnosis |
| title_sort | acute myeloid leukemia with etv6 chic2 fusion gene pitfalls in diagnosis |
| topic | Acute myeloid leukemia ETV6::CHIC2; basophilia flow cytometry ETV6::PDGFRA Next Generation Sequencing immunophenotype |
| url | https://www.tandfonline.com/doi/10.1080/16078454.2024.2381170 |
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