Diagnostic Approach to Aplastic/Hypoplastic Bone Marrow Disorders

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Copyright: 2024
Pages: 34
Source title: Principles and Approaches to Diagnostic Bone Marrow Examination
Source Author(s)/Editor(s): Samia Hassan Rizk (Cairo University, Egypt)
DOI: 10.4018/978-1-6684-5818-1.ch007

Keywords: Medical Diagnosis and Practice / Medical Information Science Reference / Medical Treatment & Care / Medicine & Healthcare

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Abstract

Bone marrow aplasia is a hypofunctional HSC disorder with variable etiology. The term encompasses both acquired and hereditary types. Patients with marrow aplasia often present with single or multiple cytopenias, age-related marrow hypocellularity, with or without other organ abnormalities, and a variable risk of clonal evolution. The pathogenic mechanisms of acquired and hereditary marrow aplasia involve immunologic and germline gene abnormalities of stem cells. Clonal evolution often occurs due to the acquisition of somatic and germline mutations. Recently, hematopoietic stem cell transplantation using fludarabine-based protocols significantly improved outcomes, particularly for patients with FA and DC. New and potentially more efficacious therapies may improve patient outcomes, including hematopoietic gene therapy and drugs, e.g., transforming growth factor (TGF)-beta inhibitors for FA and PAPD5, a human poly(A) polymerase, inhibitors for DC that target disease-specific defects.

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Diagnostic Approach to Aplastic/Hypoplastic Bone Marrow Disorders

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