Inherited Bone Marrow Failure Syndromes

2019 ◽  
pp. 131-146
Author(s):  
K. V. Karthika ◽  
Priyanka Mishra ◽  
Hara Prasad Pati
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Bone Marrow Failure Syndromes

Bone Marrow Failure Syndromes

2021 ◽  
pp. 43-61
Author(s):  
Amy E. Geddis ◽  
Meera Srikanthan ◽  
Katie Bergstrom
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Bone Marrow Failure Syndromes

scholarly journals Androgen therapy in inherited bone marrow failure syndromes: analysis from the Canadian Inherited Marrow Failure Registry

2020 ◽  
Vol 189 (5) ◽  
pp. 976-981 ◽  
Author(s):  
Albert Català ◽  
Salah S. Ali ◽  
Geoffrey D. E. Cuvelier ◽  
MacGregor Steele ◽  
Robert J. Klaassen ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Androgen Therapy ◽  
Bone Marrow Failure Syndromes

scholarly journals Monitoring and treatment of MDS in genetically susceptible persons

Hematology ◽  
2019 ◽  
Vol 2019 (1) ◽  
pp. 105-109 ◽  
Author(s):  
Stella M. Davies
Keyword(s):  
Bone Marrow ◽  
Dna Damage ◽  
Bone Marrow Failure ◽  
Treatment Strategies ◽  
Informed Choice ◽  
Dyskeratosis Congenita ◽  
Careful Consideration ◽  
Host Susceptibility ◽  
Bone Marrow Failure Syndromes ◽  
Severe Infections

Abstract Genetic susceptibility to myelodysplastic syndrome (MDS) occurs in children with inherited bone marrow failure syndromes, including Fanconi anemia, Shwachman Diamond syndrome, and dyskeratosis congenita. Available evidence (although not perfect) supports annual surveillance of the blood count and bone marrow in affected persons. Optimal treatment of MDS in these persons is most commonly transplantation. Careful consideration must be given to host susceptibility to DNA damage when selecting a transplant strategy, because significant dose reductions and avoidance of radiation are necessary. Transplantation before evolution to acute myeloid leukemia (AML) is optimal, because outcomes of AML are extremely poor. Children and adults can present with germline mutations in GATA2 and RUNX1, both of which are associated with a 30% to 40% chance of evolution to MDS. GATA2 deficiency may be associated with a clinically important degree of immune suppression, which can cause severe infections that can complicate transplant strategies. GATA2 and RUNX1 deficiency is not associated with host susceptibility to DNA damage, and therefore, conventional treatment strategies for MDS and AML can be used. RUNX1 deficiency has a highly variable phenotype, and MDS can occur in childhood and later in adulthood within the same families, making annual surveillance with marrow examination burdensome; however, such strategies should be discussed with affected persons, allowing an informed choice.

scholarly journals The clinical impact of copy number variants in inherited bone marrow failure syndromes

2017 ◽  
Vol 2 (1) ◽  
Author(s):  
Nicolas Waespe ◽  
Santhosh Dhanraj ◽  
Manju Wahala ◽  
Elena Tsangaris ◽  
Tom Enbar ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Copy Number ◽  
Bone Marrow Failure ◽  
Copy Number Variants ◽  
Clinical Impact ◽  
Bone Marrow Failure Syndromes

scholarly journals Identification and functional characterization of novel telomerase variant alleles in Japanese patients with bone-marrow failure syndromes

2008 ◽  
Vol 40 (2) ◽  
pp. 185-191 ◽  
Author(s):  
Junko Takeuchi ◽  
Hinh Ly ◽  
Hiroki Yamaguchi ◽  
Kathryn A. Carroll ◽  
Fumiko Kosaka ◽  
...  
Keyword(s):  
Bone Marrow ◽  
Bone Marrow Failure ◽  
Functional Characterization ◽  
Japanese Patients ◽  
Bone Marrow Failure Syndromes ◽  
Variant Alleles
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