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
P04.60 Genomic profile of tumorigenesis in a patient with Turcot syndrome
Karschnia P, Erson-Omay E, Huttner A, Fulbright R, Günel M, Baehring J. P04.60 Genomic profile of tumorigenesis in a patient with Turcot syndrome. Neuro-Oncology 2018, 20: iii293-iii293. PMCID: PMC6143975, DOI: 10.1093/neuonc/noy139.294.Peer-Reviewed Original ResearchWhole-exome sequencingEndometrial carcinomaTurcot syndromeBrain tumorsMicrosatellite instabilityMMR genesSecond hitSomatic missense mutationsMissense mutationsLeft frontal tumorPrimary brain tumorsPatient's brain tumorMismatch repair deficiencyMMR-deficient tumorsExpression of MSH6Heterozygous germline mutationsHeterozygous germline missense mutationRight hemiparesisSubtotal resectionUterine adenocarcinomaMetachronous tumorsFrontal tumorGermline missense mutationAbdominal tumorsFamily history
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