Somatic GATA2 mutations define a subgroup of myeloid malignancy patients at high risk for invasive fungal disease

Rahul S. Vedula, Matthew P. Cheng, Christine E. Ronayne, Dimitrios Farmakiotis, Vincent T. Ho, Sophia Koo, Francisco M. Marty, R. Coleman Lindsley, Tyler D. Bold

Research output: Contribution to journalArticlepeer-review

11 Scopus citations


Invasive fungal disease (IFD) can be a severe treatment complication in patients with myeloid malignancies, but current risk models do not incorporate disease-specific factors, such as somatic gene mutations. Germline GATA2 deficiency is associated with a susceptibility to IFD. To determine whether myeloid gene mutations were associated with IFD risk, we identified 2 complementary cohorts of patients with myeloid malignancy, based on (1) the diagnosis of invasive aspergillosis (IA), or (2) the presence of GATA2 mutations identified during standard clinical sequencing. We found somatic GATA2 mutations in 5 of 27 consecutive patients who had myeloid malignancy and developed IA. Among 51 consecutive patients with GATA2 mutations identified in the evaluation of myeloid malignancy, we found that IFD was diagnosed and treated in 21 (41%), all of whom had received chemotherapy or had undergone an allogeneic stem cell transplant. Pulmonary infections and disseminated candidiasis were most common. The 90-day mortality was 52% among patients with IFD. Our results indicate that patients with somatic GATA2 mutations are a vulnerable subgroup of patients with myeloid malignancy who have high risk for treatment-associated IFD and suggest that a focused approach to antifungal prophylaxis be considered.

Original languageEnglish (US)
Pages (from-to)54-60
Number of pages7
JournalBlood Advances
Issue number1
StatePublished - Dec 31 2020

Bibliographical note

Funding Information:
This work was supported by National Institutes of Health (NIH)/ National Heart, Lung, and Blood Institute fellowship training grant 2T32HL116324-06 (R.S.V.), NIH/National Institute of Allergy and Infectious Diseases fellowship training grant T32 AI007061-39 (T.D.B.), NIH/National Cancer Institute grant K08CA204734 (R.C.L.), and by the Dresner Foundation (R.C.L.).

Publisher Copyright:
© 2020 by The American Society of Hematology.


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