2019
Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation
McReynolds L, Zhang Y, Yang Y, Tang J, Mulé M, Hsu A, Townsley D, West R, Zhu J, Hickstein D, Holland S, Calvo K, Hourigan C. Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation. Leukemia Research Reports 2019, 12: 100176. PMID: 31245276, PMCID: PMC6582196, DOI: 10.1016/j.lrr.2019.100176.Peer-Reviewed Original ResearchAcute myeloid leukemiaMyelodysplastic syndromeProgression to acute myeloid leukemiaNRAS Q61K mutationDevelopment of acute myeloid leukemiaGATA2 deficiency syndromeGermline GATA2 mutationsQ61K mutationBone marrow failureHeterozygous germline mutationsTargeted deep sequencingGATA2 mutationsAllogeneic transplantationMarrow failureMyeloid leukemiaAML developmentBone marrowDeficiency syndromeHematologic abnormalitiesGermline mutationsK mutationWhole exomePatientsDeep sequencingMutations
2018
MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations
McReynolds L, Yang Y, Yuen Wong H, Tang J, Zhang Y, Mulé M, Daub J, Palmer C, Foruraghi L, Liu Q, Zhu J, Wang W, West R, Yohe M, Hsu A, Hickstein D, Townsley D, Holland S, Calvo K, Hourigan C. MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations. Leukemia Research 2018, 76: 70-75. PMID: 30578959, PMCID: PMC6340496, DOI: 10.1016/j.leukres.2018.11.013.Peer-Reviewed Original ResearchConceptsMDS-associated mutationsGermline GATA2 mutationsGATA2 patientsGATA2 mutationsHypocellular marrowRelatives of probandsHealthy relativesMyelodysplastic syndrome/acute myeloid leukemiaMorphological evidence of dysplasiaComplex multi-system disorderChronic myelomonocytic leukemiaBone marrow diseaseBone marrow failureEvidence of dysplasiaMulti-system disorderMinimal disease manifestationsCytopenic patientsGATA2 deficiencyMarrow diseaseClonal hematopoiesisMutation patientsSevere immunodeficiencyMarrow failureVariable cytopeniasMyelomonocytic leukemia
This site is protected by hCaptcha and its Privacy Policy and Terms of Service apply