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MG-116 Report of 2 families with emberger syndrome (GATA2 mutation): Recognition of variance in clinical phenotype allows detection prior to malignant presentation
  1. Karen Y Niederhoffer1,
  2. David Dix2,
  3. Wingfield Rehmus3,
  4. Barbara McGillivray1,
  5. Linlea Armstrong1
  1. 1Department of Medical Genetics, University of British Columbia, Vancouver, Canada
  2. 2Division of Hematology and Oncology
  3. 3Division of Dermatology, Department of Pediatrics, University of British Columbia, Vancouver, Canada


Background Emberger syndrome is caused by mutation in GATA2 and predisposes to myelodysplastic syndrome (MDS)/acute myelogenous leukaemia (AML), lymphedema, warts, subtle dysmorphic features, and, rarely, congenital anomalies.

Objectives To describe the heterogeneity associated with GATA2 mutation and highlight features that should prompt testing.

Design/methods Case report of 2 families with mutation-confirmed Emberger syndrome.

Results Family 1: The proband presented with warts and mouth ulcers. WHIM syndrome was considered when neutropenia and B-cell deficiency developed, despite negative CXCR4 testing. Years later, the patient developed AML with monosomy 7 and underwent chemotherapy and stem cell transplantation. Idiopathic leg lymphedema occurred. Family history was significant for warts. Re-examination identified subtle dysmorphisms. GATA2 sequencing detected a missense mutation.

Family 2: Sibling 1 had a history of warts, mouth ulcers, ectopic anus, mild sensorineural hearing loss, and new-onset neutropenia. Bone marrow testing diagnosed MDS with monosomy 7. Sibling 2 had hypocellular, mildly dysplastic bone marrow. History included warts and leg lymphedema. Sibling 3 had mild bone marrow hypocellularity. Family history was significant for a parent with childhood warts and mouth ulcers. Siblings 1–3 had subtle dysmorphisms. GATA2 sequencing identified a nonsense mutation. Sibling 1 underwent stem cell transplantation. Siblings 2–3 are closely monitored.

Conclusions The literature is biassed towards individuals who present with overt haematological malignancies; however, Emberger syndrome can be recognised earlier. Suspicion should be high in individuals with persistent hematologic/immunologic abnormalities, warts refractory to treatment, and/or lymphedema particularly in the setting of subtle, but typical, dysmorphisms. Intervention before development of AML decreases morbidity/mortality.

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