Recursive Partitioning to Differentiate Acquired From Inherited Bone Marrow Failure Syndromes.

ABSTRACT: Distinguishing inherited bone marrow failure (IBMF) from acquired aplastic anemia (aAA) at diagnosis is a major clinical challenge and is essential for appropriate treatment and patients' counseling. Genetic testing to exclude IBMF is frequently subject to delays of several months and may not be available in all centers and could not be applied to all patients in a large number of countries. Our study aimed to develop a practical scoring system to identify patients who are unlikely to have IBMF. Patients in the training set (N = 150) were classified as having either aAA or IBMF based on genetic results and/or response to immunosuppressive therapy. We retrospectively recorded 33 clinical and laboratory characteristics at the time of diagnosis. The diagnostic algorithm was then constructed u

SUBMITTER: Kaphan E 

PROVIDER: S-EPMC12516657 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature