Publication at First Faculty of Medicine, Second Faculty of Medicine |
2021
Abstract
GATA2 deficiency is an autosomal dominant disorder predisposing to myeloid neoplasia and immunodeficiency. GATA2-related myelodysplastic syndrome (MDS) may present early in life and is commonly associated with monosomy 7 and trisomy 8 karyotypes.
Der(1;7)(q10;p10), henceforth der(1;7), is an unbalanced whole-arm chromosomal translocation resulting in trisomy 1q and deletion 7q (del(7q)). This translocation has been recurrently reported in adults with primary and therapy-related hematopoietic malignancies, while in children it is associated with primary MDS.
Previously, we and others reported single cases of GATA2 deficiency that carry der(1;7).