[Diagnosis and management of leukemia-predisposing conditions]

For the diagnosis of leukemia-predisposing condition, patients with a hematological disorder should provide complete personal and family history and undergo physical examination. However, as patients often present without classic clinical stigmata or suspicious family history, genetic testing becomes a crucial diagnostic challenge. As several genes predispose leukemia, genetic analysis targeting multiple genes, besides conventional testing procedures such as the chromosome fragility test, should be performed for rapid diagnosis and treatment planning. In addition, complete blood count and bone marrow analysis should be routinely performed to monitor disease progression. Knowledge of what kind of results imply predisposition to leukemia is imperative. Furthermore, genetic counseling, including disease review, genetic information updates, patient education, and psychosocial support, is vital in the process of patient medical care.