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KMID : 1100820220120030209
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Laboratory Medicine Online
2022 Volume.12 No. 3 p.209 ~ p.213
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A Novel Germline Mutation in DDX41 Predisposed to Myelodysplasia/Acute Myeloid Leukemia
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Kwak Min-Sun
Jeong In-Hwa
Kim Sung-Hyun
Kim Nam-Hee
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Abstract
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Germline DDX41 lesions indicate a hereditary myelodysplastic syndrome and acute myeloid leukemia (MDS/AML). Canonical somatic mutations in this gene often coincide as a second hit with germline DDX41 mutations. We report a patient with inherited MDS/AML containing novel germline DDX41 mutations that harbor somatic mutations in the other DDX41 allele. The 72-year-old woman was diagnosed with myelodysplastic syndrome with excess blasts-2 (MDS-EB-2) and had gone through 16 rounds of chemotherapy. However, an increase in leukemic myeloblasts was observed in the bone marrow aspiration, resulting in transition to AML. Targeted gene panel sequencing revealed DDX41 c.308_309del (p.Glu103Valfs*31) with a variant allele frequency (VAF) of 49%, and DDX41 c.1589G>A (p.Gly530Asp) with a VAF of 6%. The c.308_309del variant was confirmed as a germline variant after analyzing buccal DNA. An identical germline DDX41 mutation was detected in her unaffected daughter and son. The patient was repeatedly hospitalized for neutropenic fever and eventually expired on account of sepsis. Genetic investigation is crucial for providing appropriate medical management to patients and determining the prognosis of a disease. In addition, it helps to provide appropriate counseling and raise awareness of inherited hematologic malignancies for family members.
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KEYWORD
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DEAD box helicase 41, Genetic variations, Myelodysplastic syndromes, Acute myeloid leukemia, Next-generation sequencing
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