Young woman with mild bone marrow dysplasia, GATA2 and ASXL1 mutation treated with allogeneic hematopoietic stem cell transplantation

• Heterozygous mutations in GATA2 underlie different syndromes, previously described as monocytopenia and mycobacterial avium complex infection (MonoMAC); dendritic cell, monocytes, B- and NK lymphocytes deficiency (DCML); lymphedema, deafness and myelodysplasia (Emberger syndrome) and familiar myelodysplastic syndrome/acute myeloid leukemia (MDS / AML). Onset and severity of clinical symptoms vary and preceding cytopenias are not always present. We describe a case of symptomatic DCML deficiency and rather discrete bone marrow findings due to GATA2 mutation. Exome sequencing revealed a somatic ASXL1 mutation and the patient underwent allogeneic stem cell transplantation successfully. © 2015.

Ämnesord

Medical and Health Sciences  (hsv)

Clinical Medicine  (hsv)

Hematology  (hsv)

Medicin och hälsovetenskap  (hsv)

Klinisk medicin  (hsv)

Hematologi  (hsv)

Nyckelord

GATA2 mutation; Myelodysplastic syndrome; ASXL1 mutation; Allogeneic hematopoietic stem cell transplantation