Table 3.

Recommended Evaluations Following Initial Diagnosis in Individuals with DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

System/ConcernEvaluationComment
Hematologic/
Oncologic 		CBC w/differential, reticulocyte count, & peripheral smear review
Referral to hematologistRefer to center w/expertise in predisposition to hematologic malignancies.
Bone marrow biopsy & aspirate, cytogenetics:
  • In those w/cytopenia(s) &/or macrocytosis
  • Consider in healthy persons w/normal blood counts on an individual basis.
Consider a myeloid malignancy multigene panel if warranted based on bone marrow findings to identify acquired variants in affected tissue relevant to prognosis & treatment (e.g., FLT3, NPM1, CEBPA, IDH1/2, TP53).
Genetic
counseling 		By genetics professionals 1To inform patients & their families re nature, MOI, & implications of DDX41-assoc familial MDS/AML in order to facilitate medical & personal decision making

AML = acute myeloid leukemia; CBC = complete blood count; MDS = myelodysplastic syndrome; MOI = mode of inheritance

1.

Medical geneticist, certified genetic counselor, certified advanced genetic nurse

From: DDX41-Associated Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia

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