TY - JOUR
T1 - Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML
T2 - A case report and literature review of invasive fungal infections in GATA2 deficiency
AU - Chiu, Chia Yu
AU - Matsuo, Takahiro
AU - Wurster, Sebastian
AU - Gerstein, Yoheved
AU - Hammond, Danielle E.
AU - Chien, Kelly S.
AU - DiNardo, Courtney
AU - Kontoyiannis, Dimitrios P.
N1 - Publisher Copyright:
© 2023 Wiley-VCH GmbH. Published by John Wiley & Sons Ltd.
PY - 2023/12
Y1 - 2023/12
N2 - Germline pathogenic variants (PVs) in the gene encoding the GATA2 transcription factor can result in profound reductions of monocytes, dendritic cells, natural killer cells and B cells. GATA2 PVs are associated with an increased risk of myeloid malignancies and a predisposition to nontuberculous mycobacterial and human papillomavirus infections. Additionally, invasive fungal infections (IFIs) have been reported in individuals with GATA2 PVs, even in the absence of myeloid malignancies. In this report, we present the case of a 40-year-old man with Emberger syndrome (GATA2 mutation, recently diagnosed acute myeloid leukaemia [AML] and history of lymphedema with hearing loss) who developed Mucorales sinusitis while receiving his first course of remission induction chemotherapy. Additionally, we review the literature on all published cases of proven IFIs in patients with GATA2 PVs. Clinicians should be aware that patients with GATA2 PVs could be vulnerable to opportunistic IFIs, even in the absence of AML and antineoplastic therapy. Furthermore, the distinctly unusual occurrence of mucormycosis during the first course of induction chemotherapy for AML in our patient indicates that patients with germline GATA2 PVs receiving induction chemotherapy for AML might be at high risk for early onset of IFIs due to aggressive, opportunistic moulds.
AB - Germline pathogenic variants (PVs) in the gene encoding the GATA2 transcription factor can result in profound reductions of monocytes, dendritic cells, natural killer cells and B cells. GATA2 PVs are associated with an increased risk of myeloid malignancies and a predisposition to nontuberculous mycobacterial and human papillomavirus infections. Additionally, invasive fungal infections (IFIs) have been reported in individuals with GATA2 PVs, even in the absence of myeloid malignancies. In this report, we present the case of a 40-year-old man with Emberger syndrome (GATA2 mutation, recently diagnosed acute myeloid leukaemia [AML] and history of lymphedema with hearing loss) who developed Mucorales sinusitis while receiving his first course of remission induction chemotherapy. Additionally, we review the literature on all published cases of proven IFIs in patients with GATA2 PVs. Clinicians should be aware that patients with GATA2 PVs could be vulnerable to opportunistic IFIs, even in the absence of AML and antineoplastic therapy. Furthermore, the distinctly unusual occurrence of mucormycosis during the first course of induction chemotherapy for AML in our patient indicates that patients with germline GATA2 PVs receiving induction chemotherapy for AML might be at high risk for early onset of IFIs due to aggressive, opportunistic moulds.
KW - acute myeloid leukaemia
KW - GATA2 mutations
KW - hematologic malignancy
KW - invasive fungal infections
KW - mucormycosis
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U2 - 10.1111/myc.13638
DO - 10.1111/myc.13638
M3 - Review article
C2 - 37550272
AN - SCOPUS:85166973705
SN - 0933-7407
VL - 66
SP - 1029
EP - 1034
JO - Mycoses
JF - Mycoses
IS - 12
ER -