Abstract
A wide spectrum of inherited and sporadic genetic abnormalities predisposes individuals to increased risks of developing hematopoietic and lymphoid disorders. Each of these genetic abnormalities is associated with a syndrome with characteristic clinical and laboratory features. These predispositions to hematolymphoid disorders may be placed into one of two board categories: (1) bone marrow (BM) failure syndromes; and (2) primary immune deficiency syndromes. The majority of individuals in either of these two groups will have an inherited genetic abnormality. The disorders predisposing to hematolymphoid neoplasias addressed in this chapter are presented in Table 2.1. An attempt was made to include in this table the processes where there is sufficient documentation of increased risks of developing hematologic or lymphoid neoplasms. This table also attempts to group the different hematolymphoid predisposition entities by major function of their mutated gene’s normal counterpart. This is not an entirely satisfying approach. For example, patients with Dyskeratosis congenita (DC) and a mutation of DKC1 will have an abnormal dyskerin, the normal counterpart of which is involved in RNA biogenesis and telomerase activity. Similarly, some disorders like Ataxia–telangiectasia (AT) or Wiskott–Aldrich syndrome are included in classifications of primary BM failure syndromes as well as in those of primary immune deficiency diseases. Space does not allow for providing an extensive discussion of the clinical and laboratory features of each of entities to be presented, but this information is available in many current reviews and texts.
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Behm, F.G. (2010). Genetic Predispositions for Hematologic and Lymphoid Disorders. In: Dunphy, C. (eds) Molecular Pathology of Hematolymphoid Diseases. Molecular Pathology Library, vol 4. Springer, Boston, MA. https://doi.org/10.1007/978-1-4419-5698-9_2
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