A case of secondary acute myeloid leukemia on a background of glycogen storage disease with chronic neutropenia treated with granulocyte colony stimulating factor
Dina Khalaf,
Heather Bell,
David Dale,
Vikas Gupta,
Hanna Faghfoury,
Chantal F. Morel,
Anne Tierens,
David A. Weinstein,
Jiong Yan,
Santhosh Thyagu,
Dawn Maze
Affiliations
Dina Khalaf
Department of Medical Oncology and Hematology, Princess Margaret Hospital Cancer Centre University Health Network Toronto Ontario Canada
Heather Bell
Fred A. Litwin Family Centre in Genetic Medicine University Health Network and Mount Sinai Hospital Toronto Ontario Canada
David Dale
Department of Medicine University of Washington Seattle Washington
Vikas Gupta
Department of Medical Oncology and Hematology, Princess Margaret Hospital Cancer Centre University Health Network Toronto Ontario Canada
Hanna Faghfoury
Fred A. Litwin Family Centre in Genetic Medicine University Health Network and Mount Sinai Hospital Toronto Ontario Canada
Chantal F. Morel
Department of Medical Oncology and Hematology, Princess Margaret Hospital Cancer Centre University Health Network Toronto Ontario Canada
Anne Tierens
Department of Pathology, Toronto General Hospital University Health Network Toronto Ontario Canada
David A. Weinstein
Glycogen Storage Disease Program University of Connecticut and Connecticut Children's Medical Center Hartford Connecticut
Jiong Yan
Department of Pathology, Toronto General Hospital University Health Network Toronto Ontario Canada
Santhosh Thyagu
Department of Medical Oncology and Hematology, Princess Margaret Hospital Cancer Centre University Health Network Toronto Ontario Canada
Dawn Maze
Department of Medical Oncology and Hematology, Princess Margaret Hospital Cancer Centre University Health Network Toronto Ontario Canada
Abstract Congenital neutropenias due to mutations in ELANE, SBDS or HAX1 or in the setting of glycogen storage disease (GSD) which is caused by SLC37A4 mutation, often require prolonged granulocyte colony stimulating factor (G‐CSF) therapy to prevent recurrent infections and hospital admission. There has been emerging evidence that prolonged exposure to G‐CSF in cases with congenital neutropenia other than GSD is associated with transformation to myelodysplastic syndrome/acute myeloid leukemia.
