loading page

Germline 3q21 Deletion Affects GATA2 and is Associated with Myelodysplastic Syndrome
  • +4
  • Jacob Greenmyer,
  • Whitney Thompson,
  • Nicole Hoppman,
  • Shakila Khan,
  • Mrinal Patnaik,
  • Lisa Schimmenti,
  • Mira Kohorst
Jacob Greenmyer
Mayo Clinic
Author Profile
Whitney Thompson
Mayo Clinic
Author Profile
Nicole Hoppman
Mayo Clinic
Author Profile
Shakila Khan
Mayo Clinic
Author Profile
Mrinal Patnaik
Mayo Clinic
Author Profile
Lisa Schimmenti
Mayo Clinic
Author Profile
Mira Kohorst
Mayo Clinic

Corresponding Author:[email protected]

Author Profile

Abstract

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.