Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation

We report a case of Emberger syndrome with GATA2 mutation in a 9-year-old girl who presented with congenital sensorineural deafness, warts, lymphedema, and Myelodysplastic syndrome. Her sister had died of a similar illness. She underwent a nonmyeloablative matched related donor peripheral blood HSCT with rabbit antithymoglobulin (5 mg/kg), fludarabine (160 mg/m2), cyclophophamide (29 mg/kg), and total body irradiation (2 Gray). Graft versus host disease prophylaxis consisted of tacrolimus and mycophenolate moefetil. She had neutrophil engraftment on day+15 and fully donor chimerism by day+30. She developed limited chronic skin graft versus host disease on tapering off immunosuppression. She is disease free on day+475. The review of literature showed a total of 28 patients with GATA2 mutation have undergone HSCT mostly nonmyeloablative and overall survival is 75%. Nonmyeloablatove HSCT is feasible and safe for the patients with GATA2 mutation.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Clinical and Laboratory Observations Source Type: research