编码GATA2转录因子的基因中的种系致病变体(PV)可导致单核细胞的大幅减少,树突状细胞,自然杀伤细胞和B细胞。GATA2PV与骨髓性恶性肿瘤的风险增加以及对非结核性分枝杆菌和人乳头瘤病毒感染的易感性相关。此外,侵袭性真菌感染(IFIs)已在GATA2PV患者中报告,即使没有骨髓性恶性肿瘤。在这份报告中,我们介绍了一个40岁的男性Emberger综合征(GATA2突变,最近诊断为急性髓性白血病[AML]和淋巴水肿伴听力损失的病史),在接受其第一个疗程的缓解诱导化疗时发展为Mucorales鼻窦炎。此外,我们回顾了所有已发表的GATA2PV患者经证实的IFIs病例的文献.临床医生应该意识到GATA2PV患者可能容易受到机会性IFIs的影响,即使没有AML和抗肿瘤治疗。此外,我们的患者在AML诱导化疗的第一个疗程中明显不寻常地发生了毛霉菌病,这表明接受AML诱导化疗的种系GATA2PV患者可能由于侵袭性而处于早期发生IFIs的高风险,机会主义模具。
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.