Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
Introduction: Previously, it was assumed that genetic influence played a minor role in acute myeloid leukemia (AML). Increasing evidence of germline mutations has emerged, such as <i>DDX41</i> germline mutation associated with familial AML. Case presentation: A 64-year-old male patient p...
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MDPI AG
2023-12-01
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| Online Access: | https://www.mdpi.com/2227-9059/12/1/64 |
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| author | Jan Nicolai Wagner Maximilian Al-Bazaz Anika Forstreuter Mohammad Ibrahim Hammada Jurek Hille Dzhoy Papingi Carsten Bokemeyer Walter Fiedler |
| author_facet | Jan Nicolai Wagner Maximilian Al-Bazaz Anika Forstreuter Mohammad Ibrahim Hammada Jurek Hille Dzhoy Papingi Carsten Bokemeyer Walter Fiedler |
| author_sort | Jan Nicolai Wagner |
| collection | DOAJ |
| description | Introduction: Previously, it was assumed that genetic influence played a minor role in acute myeloid leukemia (AML). Increasing evidence of germline mutations has emerged, such as <i>DDX41</i> germline mutation associated with familial AML. Case presentation: A 64-year-old male patient presented with reduced exercise tolerance and shortness of breath. Following confirmation of AML diagnosis, the patient was enrolled into the AMLSG-30-18 study with a requirement for allogenic stem cell transplantation. The sister was initially selected as a fully HLA-matched donor. However, the family history showed risks for familial AML. Due to the striking family history, further diagnostic steps were initiated to detect a germline mutation. Methods: Using NGS in the patients’ bone marrow AML sample, a <i>DDX41</i> mutation with a VAF of 49% was detected, raising the possibility of a germline mutation. DNA from cheek swabs and eyebrows were tested for the presence of the <i>DDX41</i> mutation in all siblings. Results: <i>DDX41</i> germline mutation was detected in 5 out of 6 siblings. The sister was excluded as a related donor and the search for an unrelated donor was initiated. Conclusion: Obtaining family history of cancer patients plays a crucial role in oncology. If a germline mutation is suspected, further family work-up should be initiated. |
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| last_indexed | 2024-03-08T09:57:30Z |
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| spelling | doaj.art-1afa1cc6f3c94fc2a9ece59c75b169c32024-01-29T13:46:50ZengMDPI AGBiomedicines2227-90592023-12-011216410.3390/biomedicines12010064Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from LeukemiaJan Nicolai Wagner0Maximilian Al-Bazaz1Anika Forstreuter2Mohammad Ibrahim Hammada3Jurek Hille4Dzhoy Papingi5Carsten Bokemeyer6Walter Fiedler7Department of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyDepartment of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyDepartment of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyDepartment of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyDepartment of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyInstitute of Human Genetics, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyDepartment of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyDepartment of Oncology, Hematology and Bone Marrow Transplantation with Division of Pneumology, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, GermanyIntroduction: Previously, it was assumed that genetic influence played a minor role in acute myeloid leukemia (AML). Increasing evidence of germline mutations has emerged, such as <i>DDX41</i> germline mutation associated with familial AML. Case presentation: A 64-year-old male patient presented with reduced exercise tolerance and shortness of breath. Following confirmation of AML diagnosis, the patient was enrolled into the AMLSG-30-18 study with a requirement for allogenic stem cell transplantation. The sister was initially selected as a fully HLA-matched donor. However, the family history showed risks for familial AML. Due to the striking family history, further diagnostic steps were initiated to detect a germline mutation. Methods: Using NGS in the patients’ bone marrow AML sample, a <i>DDX41</i> mutation with a VAF of 49% was detected, raising the possibility of a germline mutation. DNA from cheek swabs and eyebrows were tested for the presence of the <i>DDX41</i> mutation in all siblings. Results: <i>DDX41</i> germline mutation was detected in 5 out of 6 siblings. The sister was excluded as a related donor and the search for an unrelated donor was initiated. Conclusion: Obtaining family history of cancer patients plays a crucial role in oncology. If a germline mutation is suspected, further family work-up should be initiated.https://www.mdpi.com/2227-9059/12/1/64acute leukemiaDDX41germline mutationCPX-351genetics |
| spellingShingle | Jan Nicolai Wagner Maximilian Al-Bazaz Anika Forstreuter Mohammad Ibrahim Hammada Jurek Hille Dzhoy Papingi Carsten Bokemeyer Walter Fiedler Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia Biomedicines acute leukemia DDX41 germline mutation CPX-351 genetics |
| title | Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia |
| title_full | Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia |
| title_fullStr | Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia |
| title_full_unstemmed | Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia |
| title_short | Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia |
| title_sort | case report of a ddx41 germline mutation in a family with multiple relatives suffering from leukemia |
| topic | acute leukemia DDX41 germline mutation CPX-351 genetics |
| url | https://www.mdpi.com/2227-9059/12/1/64 |
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