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2024, Number 4

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Acta Pediatr Mex 2024; 45 (4)

Fanconi anemia, Part 3. Cytogenetic monitoring in the bone marrow of patients with Fanconi anemia

Sánchez S, Reyes P, Mejía BMA, Paz MA, Frias S

Language: Spanish
References: 41
Page: 343-360
PDF size: 500.47 Kb.


ABSTRACT

Fanconi anemia is the most common hereditary bone marrow failure syndrome; in these patients usually develops progressively, and hematological complications may worsen during adolescence and early adulthood, leading to the development of neoplasmassociated conditions such as myelodysplastic syndromes and acute myeloid leukemia. The onset and evolution toward neoplasia in Fanconi anemia, has been associated with losses and gains of chromosomal regions, and can be monitored by searching for clonal cytogenetic alterations located on chromosomes 1, 3 and 7 being characteristic of the disease. In this article, we present the methodology used by our laboratory to detect and monitor chromosome alterations, using banding GTG and fluorescence in situ hybridization techniques. This strategy represents a cost-effective way to perform longitudinal monitoring of changes in the bone marrow of patients, which, together with morphological analysis and monitoring of peripheral blood counts, allows timely therapeutic decisions to be made, such as programming transplantation of hematopoietic stem and progenitor cells, when possible.


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