Clinical Information (ข้อมูลทางคลินิก):
Myelodysplastic syndromes (MDS) are clonal hematopoietic stem cell disorders characterized by ineffective hematopoiesis, dysplastic bone marrow, and peripheral blood cytopenias. Progression of MDS to acute myeloid leukemia (AML) occurs in up to 40% of patients. MDS and AML are most often sporadic, late-onset malignancies; however, recent data indicate that hereditary MDS/AML may have a higher incidence than previously thought and may present at a younger age of onset compared with sporadic cases. MDS/AML predisposition is associated with several primary bone marrow failure disorders, including Diamond-Blackfan anemia, Fanconi anemia, severe congenital neutropenia, Shwachman-Diamond syndrome, and dyskeratosis congenita. This panel analyzes 69 genes associated with hereditary MDS/AML predisposition.
Clinical Reference (เอกสารอ้างอิง):
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3. Rio-Machin, A., Vulliamy, T., Hug, N. et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun 11, 1044 (2020). https://doi.org/10.1038/s41467-020-14829-5