Current perspectives on inherited bone marrow syndromes

Česká verzia

Authors: D. Pospíšilová
Authors place of work: Dětská klinika LF UP a FN, Olomouc přednosta prof. MUDr. V. Mihál, CSc.
Published in the journal: Čes-slov Pediat 2016; 71 (4): 216-228.
Category: Přehledový článek

Summary

Inherited bone marrow failure syndromes are a heterogeneous group of diseases characterised by bone marrow failure with cytopenia in peripheral blood, associated somatic anomalies and increased tendency to malignancies. The degree of bone marrow damage can lead to various blood count changes from isolated cytopenia to bicytopenia or severe pancytopenia. The diseases in this group are caused by mutations in genes coding for proteins involved in important cellular processes such as DNA repair, ribosomal biogenesis, telomere maintenance and cell cycle regulation. Rapid development of new molecular-genetic techniques, especially next-generation sequencing, have led to the elucidation of several causative genetic defects. Besides the understanding of the pathogenesis of the different diseases, these new discoveries have significantly contributed to a better understanding of haematopoiesis regulation as well as the pathophysiology of malignancies. The new pieces of knowledge have enabled to create new disease groups such as ribosomopathies or telomeropathies. Revealing the genetic defect in individual diseases is extremely important for appropriate approach to treatment strategies and genetic counselling.

The aim of the paper is to present the overview of current knowledge about this group of diseases.

Key words:
bone marrow failure, pancytopenia, DNA repair, ribosomal biogenesis, telomere length, hematopoietic stem cell transplantation, gene therapy

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