Inherited and acquired bone marrow failure syndromes associated with multiple cytopenias

doi:10.1017/CBO9780511781292.007

6 - Inherited and acquired bone marrow failure syndromes associated with multiple cytopenias

from Section 1 - General and non-neoplastic hematopathology

Published online by Cambridge University Press: 03 May 2011

Sa A. Wang and

Victor Zota

Edited by

Maria A. Proytcheva

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Sa A. Wang: Affiliation:
University of Texas M.D. Anderson Cancer Center
Victor Zota: Affiliation:
Novartis Institutes for BioMedical Research, Inc.
Maria A. Proytcheva: Affiliation:
Northwestern University Medical School, Illinois

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Summary

Overview

Bone marrow failure syndrome consists of a group of rare diseases with the defining features of ineffective/defective hematopoiesis by the bone marrow and resultant peripheral cytopenia [1, 2]. Bone marrow failure can be attributed to a variety of mechanisms, such as loss of pluripotent hematopoietic stem cells; bone marrow replacement by metastatic carcinoma, lymphoma, leukemia or fibrosis; nutritional/metabolic disorder leading to maturation arrest or clonal hematopoietic stem neoplasm such as myelodysplastic syndromes. Aplastic anemia is the paradigm of the human bone marrow failure syndrome, characterized by peripheral cytopenia and a hypocellular marrow [1, 3, 4]. Injury to or loss of pluripotent hematopoietic stem cells, in the absence of an infiltrative disease of the bone marrow, is the major pathophysiologic characteristic of the disease [3, 4]. Aplastic anemia can result from either inherited or acquired causes. This chapter will discuss the bone marrow failure syndromes, both inherited and acquired, that are associated with multiple cytopenias.

Inherited bone marrow failure syndromes

The inherited bone marrow failure syndromes in children comprise a group of rare congenital disorders in which the bone marrow is unable to produce blood cells effectively resulting in unilineage or multilineage cytopenia (Table 6.1). These syndromes may present with or without physical anomalies [5]. Patients with inherited bone marrow failure syndromes are at risk for severe cytopenia, development of marrow cytogenetic abnormalities, myelodysplastic syndromes (MDS), and other malignancies [6].

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Type: Chapter
Information: Diagnostic Pediatric Hematopathology , pp. 90 - 103

DOI: https://doi.org/10.1017/CBO9780511781292.007 [Opens in a new window]

Publisher: Cambridge University Press

Print publication year: 2011

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