High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency

Pathogenic germ-line variants in GATA2 (GATA2-deficiency) can cause childhood myelodysplastic syndrome (MDS) and acute myeloid leukaemia (AML), and can be associated with distinct clinical syndromic features. However, penetrance and genotype-phenotype correlations are incompletely understood. Here we report on the clinically diverse features of three siblings affected by GATA2c.1021_1031del over an 18-year period, all initially presenting in childhood and adolescence with MDS and AML with monosomy 7 (-7), and one also with trisomy 8 (+8).

Source: Cancer Genetics and Cytogenetics - April 22, 2021 Category: Genetics & Stem Cells Authors: Jamie M. Ellingford, Nick Telford, Jill Urquhart, Andrew M Will, Denise Bonney, Ben Adams, Rachel Dixon, Bronwyn Kerr, Graeme CM Black, Robert F Wynn, Stefan Meyer Source Type: research