期刊
HEMATOLOGY-ONCOLOGY CLINICS OF NORTH AMERICA
卷 34, 期 2, 页码 333-+出版社
W B SAUNDERS CO-ELSEVIER INC
DOI: 10.1016/j.hoc.2019.10.002
关键词
Myelodysplastic syndrome; Inherited predisposition; Germline mutations; Somatic mutations; Diagnostic testing; Hematopoietic stem cell transplant
资金
- NIH [T32HL007525]
Myelodysplastic syndromes (MDS) are a heterogeneous group of marrow failure disorders that primarily affect older persons but also occur at a lower frequency in children and young adults. There is increasing recognition of an inherited predisposition to MDS as well as other myeloid malignancies for patients of all ages. Germline predisposition to MDS can occur as part of a syndrome or sporadic disease. The timely diagnosis of an underlying genetic predisposition in the setting of MDS is important. This article delineates germline genetic causes of MDS and provides a scaffold for the diagnosis and management of patients in this context.
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