Abstract
Although most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identification and outline of the major known syndromes characteristics will be discussed in this text.
Highlights
Most cases of myeloid neoplasms are sporadic; a small subset has been associated with germline mutations [1,2,3]
The 2016 revision of the World Health Organization (WHO) classification included a group of myeloid neoplasms—such as myelodysplastic syndrome (MDS), MDS/ myeloproliferative neoplasms, and acute myeloid leukemia (AML)—with a predisposing, germline mutational background
The presence of germline genetic alterations associated to myeloid neoplasms should not be limited to the proband: family members might be at higher risk of developing myeloid neoplasms [6, 7]
Summary
Most cases of myeloid neoplasms are sporadic, a small subset has been associated with germline mutations. The 2016 revision of the World Health Organization classification included these cases in a myeloid neoplasm group with a predisposing germline mutational background. These patients must have a different management and their families should get genetic counseling. Cases identification and outline of the major known syndromes characteristics will be discussed in this text
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