Poster Display Malignancy and PID

GATA2 MUTATIONS IN NORWAY; FROM ACUTE DISSEMINATED HSV-INFECTION, HPV-ASSOCIATED CANCER AND MYELODYSPLASIA.

Lecture Time
10:46 - 10:47
Presenter
  • Silje Fjellgård Jørgensen, Norway
Room
Poster Area
Date
20.09.2019, Friday
Session Time
10:00 - 17:00
Board Number
49
Presentation Topic
Malignancy and PID

Abstract

Background and Aims

GATA2 mutations have a variable clinical presentation including non-tuberculous mycobacterial infection (NTMs), severe HPV infection with associated cancer, herpes-virus family infections and lymphedema. In addition, one-third of the patients progress to myelodysplastic syndrome (MDS)/acute myelogen leukemia. We aimed to describe the characteristics and outcome of adult patients diagnosed with GATA2 mutation at our hospital.

Methods

The information was retrieved from the patients’ medical records.

Results

Six patients were diagnosed with GATA2 mutation between 2013-2018. All of the patients had cytopenia, but none of the patients had NTMs. The other characteristics of the patients are given in Table1. Patient 1 presented critically ill with a disseminated HSV infection involving the liver. Patients 2 and 3 (monozygotic twins) had massive pulmonary involvement (without NTMs or alveolar proteinosis) at least partly caused by interstitial pneumonitis, and disseminated HPV infection (with carcinoma in-situ in the urogenital tract). Patients 1-4 were transplanted successfully, but Patient 2 died after 8 months due to a cerebral hemorrhage (secondary to thrombocytopenia). Patient 5 is currently being considered for HSCT, whereas patient 6 is followed with regularly BM biopsies to monitor the development of MDS. Half of the patients initially presented to a Hematologist due to cytopenia and the other half to an Infectious Disease Specialist due to severe infections and/or pulmonary involvement.

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Conclusions

The Norwegian GATA2 patients presented with a wide spectrum of clinical features from disseminated viral infection, HPV associated cancer, sterile pulmonary involvement and BM disease, but not with NTMs.

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