3.2 Classification of MDS in Pediatric Patients3.2.1 Historical Background; 3.2.2 Differences Between Adult and Pediatric MDS; 3.2.3 Current Classification of Pediatric MDS; 3.3 Refractory Cytopenia of Childhood; 3.3.1 Differentiating Severe Aplastic Anemia from Hypocellular Refractory Cytopenia of Childhood; 3.4 Advanced MDS; 3.5 Challenges of the Current WHO Classification; 3.6 Primary Versus Secondary MDS; 3.7 MDS Due to Germline Predisposition; 3.7.1 MDS Due to Germline Mutations in GATA2; 3.7.2 MDS Due to Germline Mutations in SAMD9; 3.8 Somatic Mutations in MDS.
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3.9 Clinical Presentation3.10 Diagnostic Work-Up; 3.10.1 Laboratory Evaluation; 3.10.2 Histopathology; 3.10.3 Cytogenetics and Molecular Studies; 3.10.4 Flow Cytometry; 3.11 Treatment Options in Pediatric MDS; 3.12 Prognosis; References; 4: Fanconi Anemia: A Pathway of Hematopoiesis and Cancer Predisposition; 4.1 Clinical Presentation; 4.2 Diagnosis; 4.3 Acute Myeloid Leukemia/Myelodysplastic Syndrome; 4.4 Solid Tumor; 4.5 Treatment of Patients with Fanconi Anemia; 4.5.1 Androgens; 4.5.2 Hematopoietic Cell Transplantation; 4.5.3 Supportive Care; 4.5.4 Gene Therapy.
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SUMMARY OR ABSTRACT
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This book presents the latest scientific knowledge on inherited and acquired bone marrow failure syndromes, describing the advances in understanding of genetics and pathophysiology that have been achieved as a result of high-throughput DNA sequencing, RNA expression studies, and modern biochemistry techniques. The full range of relevant conditions is covered, including acquired aplastic anemia, Fanconi anemia, ribosomopathies, telomeropathies, dyskeratosis congenita, Shwachman-Diamond syndrome, Diamond-Blackfan anemia, and congenital neutropenias and thrombocytopenias. In addition, it is explained how the study of these rare diseases has uncovered important new science and elucidated the pathophysiology of more common hematological and oncological diseases. A treatment-specific chapter describes options ranging from the conventional to the cutting edge. Bone Marrow Failure will be of value for both trainee and practicing hematologists and oncologists.