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Review
. 2017 Sep 12:7:206.
doi: 10.3389/fonc.2017.00206. eCollection 2017.

Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition

Renata Lyrio Rafael Baptista  1 , Anna Cláudia Evangelista Dos Santos  2 , Luciana Mayumi Gutiyama  3 , Cristiana Solza  1 , Ilana Renault Zalcberg  3
Affiliations
Review

Familial Myelodysplastic/Acute Leukemia Syndromes-Myeloid Neoplasms with Germline Predisposition

Renata Lyrio Rafael Baptista et al. Front Oncol. .

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.

Keywords: CEBPA; GATA2; RUNX1; WHO classification; familial; germline mutations; leukemia; myeloid neoplasms.

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Figure 1
Figure 1
How to identify acute myeloid leukemia (AML) familial cases.
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