Clinical case: allogeneic transplantation of hematopoietic stem cells for Fanconi anemia in the onset of refractory anemia with excess blasts

Author:

Prokofiev M. E.1ORCID,Kostareva I. O.1ORCID,Sergeenko K. A.2ORCID,Stepanyan N. G.1ORCID,Sidorova N. V.3ORCID,Kirgizov K. I.1ORCID

Affiliation:

1. N. N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia

2. Russian Medical Academy of Continuous Professional Education, Ministry of Health of Russia

3. N. I. Pirogov Russian National Research Medical University, Ministry of Health of Russia

Abstract

   Fanconi anemia (AF) is a hereditary genetic disease characterized by developmental abnormalities, progressive bone marrow failure, hypersensitivity to alkylating agents, and a tendency to hematological and solid tumors throughout life. The only curative option in the treatment of bone marrow failure in patients with AF is allogeneic hematopoietic stem cell transplantation (allo-HSCT). There are no detailed descriptions of allo-HSCT in patients with AF in the Russian-language literature. On the example of a clinical case with AF at the onset of myelodysplastic syndrome, a choose of method for treating bone marrow failure is presented.

Publisher

OOO Grafika

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

Reference15 articles.

1. Auerbach A. D., Buchwald M., Joenje H. Fanconi anemia. In: Vogelstein B., Kinzler K. W., eds. The Genetic Basis of Human Cancer. 2nd ed. NewYork, NY: McGraw-Hill, 2002. Pp. 317–332.

2. Mehta P. A., Ebens C. Fanconi Anemia. In: Adam M. P., Ardinger H. H., Pagon R. A., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1401/.

3. Rosenberg P. S., Tamary H., Alter B. P. How high are carrier frequencies of rare recessive syndromes? Contemporary estimates for Fanconi Anemia in the United States and Israel. Am J Med Genet A. 2011; 155A (8): 1877–83. doi: 10.1002/ajmg.a.34087.

4. Panferova A. V., Timofeeva N. M., Ol’shanskaya Yu. V. Genetic diagnosis of Fanconi anemia. Literature review. Onkogematologiya = Oncohematology. 2016; 11 (3): 76–85. (In Russ.)

5. Howlett N. G., Taniguchi T., Olson S., Cox B., Waisfisz Q., De Die-Smulders C. Biallelic inactivation of BRCA2 in Fanconi anemia. Science. 2002; 297 (5581): 606–9. doi: 10.1126/science.1073834.

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