Germline 3q21 Deletion Affects GATA2 and is Associated with
Germline 3q21 chromosome deletions result in a rare multi-system
condition. Of the 14 cases of germline 3q21 deletion syndrome reported,
2 have been reported to develop myelodysplastic syndrome necessitating
allogeneic HCT (our patient and one other). Our patient was treated with
an allogeneic, matched sibling hematopoietic cell transplantation.
Patients with 3q21 deletion have a predilection for myelodysplastic
syndrome, likely due to GATA2 deletion. We recommend frequent complete
blood count evaluation with annual bone marrow aspiration to monitor for
development of MDS in patients with 3q21 deletion.