Academic Journal
2596. Invasive Fungal Disease in Patients with GATA2 Variant Hematologic Malignancy
| العنوان: | 2596. Invasive Fungal Disease in Patients with GATA2 Variant Hematologic Malignancy |
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| المؤلفون: | Bold, Tyler D, Vedula, Rahul S, Cheng, Matthew P, Marty, Francisco M, Lindsley, R Coleman |
| المصدر: | Open Forum Infectious Diseases ; volume 6, issue Supplement_2, page S902-S902 ; ISSN 2328-8957 |
| بيانات النشر: | Oxford University Press (OUP) |
| سنة النشر: | 2019 |
| مصطلحات موضوعية: | Infectious Diseases, Oncology |
| الوصف: | Background Patients with hematologic malignancies (HM) are at risk of invasive fungal disease (IFD). Identification of those patients at the highest risk for IFD would help optimize prophylactic or preemptive treatment decisions in this population. We previously found that among patients with myeloid malignancies who develop invasive aspergillosis, 15% had a mutation in the gene GATA2. Here, we report the incidence of IFD in a cohort of patients with HM related to a pathogenic sequence variant of GATA2. Methods We identified 6343 patients cared for at Dana-Farber/Brigham and Women’s Cancer Center between January 2014 and August 2018 who underwent a next-generation sequencing assay of 95 genes recurrently mutated in hematologic malignancy. Those found to have a pathogenic GATA2 sequence variant were selected for retrospective chart review with respect to serious infectious complications including IFD. Results We identified 54 patients with a pathogenic GATA2 variant. 5 had a germline mutation related to familial GATA2 deficiency. The other 49 had a HM, mostly (41/49) acute myeloid leukemia or myelodysplastic syndrome. The frequency of the variant GATA2 allele in this group ranged from 2.5 to 92.0% of sequencing reads. 14 patients were excluded due to lack of sufficient follow-up, often related to treatment at another institution. Of the remaining 35 patients, 13 (37%) had proven/probable invasive fungal infection (IFI). Fourteen others had syndromes consistent with possible IFD. In total, 16 of these 35 patients (46%) received antifungal therapy for proven, probable or possible IFD. Four of the patients not treated with antifungals were diagnosed with a serious infection including 2 cases of Staphylococcus aureus bacteremia, and one case of disseminated Mycobacterium avium complex. Conclusion We identified a high incidence of IFD among patients with HM related to a pathogenic sequence variant of GATA2. The wide range of variant allele frequency observed raises the possibility that either inherited or ... |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| DOI: | 10.1093/ofid/ofz360.2274 |
| الاتاحة: | http://dx.doi.org/10.1093/ofid/ofz360.2274 http://academic.oup.com/ofid/article-pdf/6/Supplement_2/S902/30276786/ofz360.2274.pdf |
| Rights: | http://creativecommons.org/licenses/by-nc-nd/4.0/ |
| رقم الانضمام: | edsbas.74759B5B |
| قاعدة البيانات: | BASE |
| DOI: | 10.1093/ofid/ofz360.2274 |
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