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, but recent data indicate that hereditary MDS/AML may have a higher incidence than was thought previously, and may have a younger age of onset than 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.
Clinical Reference (เอกสารอ้างอิง):
1. Rabbani, B., Tekin, M. & Mahdieh, N. The promise of whole-exome sequencing in medical genetics. J Hum Genet 59, 5–15 (2014). https://doi.org/10.1038/jhg.2013.114
2. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, Nayir A, Bakkaloğlu A, Ozen S, Sanjad S, Nelson-Williams C, Farhi A, Mane S, Lifton RP. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19096-101. doi: 10.1073/pnas.0910672106. Epub 2009 Oct 27. PMID: 19861545; PMCID: PMC2768590.
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