Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
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Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia. / Wagner, Jan Nicolai; Al-Bazaz, Maximilian; Forstreuter, Anika; Hammada, Mohammad Ibrahim; Hille, Jurek; Papingi, Dzhoy; Bokemeyer, Carsten; Fiedler, Walter.
in: BIOMEDICINES, Jahrgang 12, Nr. 1, 64, 27.12.2023.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › Case Report › Forschung › Begutachtung
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T1 - Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia
AU - Wagner, Jan Nicolai
AU - Al-Bazaz, Maximilian
AU - Forstreuter, Anika
AU - Hammada, Mohammad Ibrahim
AU - Hille, Jurek
AU - Papingi, Dzhoy
AU - Bokemeyer, Carsten
AU - Fiedler, Walter
PY - 2023/12/27
Y1 - 2023/12/27
N2 - 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 DDX41 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 DDX41 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 DDX41 mutation in all siblings.RESULTS: DDX41 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.
AB - 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 DDX41 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 DDX41 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 DDX41 mutation in all siblings.RESULTS: DDX41 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.
U2 - 10.3390/biomedicines12010064
DO - 10.3390/biomedicines12010064
M3 - Case report
C2 - 38255170
VL - 12
JO - BIOMEDICINES
JF - BIOMEDICINES
SN - 2227-9059
IS - 1
M1 - 64
ER -