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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, Vol. 12, No. 1, 64, 27.12.2023.

Research output: SCORING: Contribution to journal › Case report › Research › peer-review

Harvard

Wagner, JN, Al-Bazaz, M, Forstreuter, A, Hammada, MI, Hille, J, Papingi, D, Bokemeyer, C & Fiedler, W 2023, 'Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia', BIOMEDICINES, vol. 12, no. 1, 64. https://doi.org/10.3390/biomedicines12010064

APA

Wagner, J. N., Al-Bazaz, M., Forstreuter, A., Hammada, M. I., Hille, J., Papingi, D., Bokemeyer, C., & Fiedler, W. (2023). Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia. BIOMEDICINES, 12(1), [64]. https://doi.org/10.3390/biomedicines12010064

Vancouver

Wagner JN, Al-Bazaz M, Forstreuter A, Hammada MI, Hille J, Papingi D et al. Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia. BIOMEDICINES. 2023 Dec 27;12(1). 64. https://doi.org/10.3390/biomedicines12010064

Bibtex

@article{8f2a9045d5074e9693da8281f3de401b,
title = "Case Report of a DDX41 Germline Mutation in a Family with Multiple Relatives Suffering from Leukemia",
abstract = "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.",
author = "Wagner, {Jan Nicolai} and Maximilian Al-Bazaz and Anika Forstreuter and Hammada, {Mohammad Ibrahim} and Jurek Hille and Dzhoy Papingi and Carsten Bokemeyer and Walter Fiedler",
year = "2023",
month = dec,
day = "27",
doi = "10.3390/biomedicines12010064",
language = "English",
volume = "12",
journal = "BIOMEDICINES",
issn = "2227-9059",
publisher = "MDPI AG",
number = "1",

}

RIS

TY - JOUR

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 -