{"title":"急性髓性白血病(AML)中独特的RUNX1基因重排","authors":"Yenam, A. Ra, A. Hollis, D. Zalepa, M. Kapp","doi":"10.15406/icpjl.2017.05.00123","DOIUrl":null,"url":null,"abstract":"Case 1: A 9year old male was referred for fever, fatigue, and pancytopenia. Bone marrow analysis revealed hypercellularity with a mixture of myeloblasts and immature monocytes comprising 90% of cells as determined by both morphology and flow cytometry. Molecular analysis for mutations in FLT3, NMP1 and C-KIT were negative, and FISH revealed rearrangement of RUNX1 locus in the chromosome 7p22 region. analysis confirmed this finding, revealing a unique translocation:46,XY, t(7;21) (p22;q22). Three adults and one child have been reported in the literature with AML or high grade MDS with t(7;21) involving RUNX1-ubiquitin-specific protease gene (USP42) fusion; however, no consistent prognostic information has emerged from these cases to date.1 Our patient had reinduction chemotherapy and is currently in remission, awaiting stem cell transplant.","PeriodicalId":92215,"journal":{"name":"International clinical pathology journal","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2017-10-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Unique RUNX1 gene rearrangements in acute myeloid Leukemia (AML)\",\"authors\":\"Yenam, A. Ra, A. Hollis, D. Zalepa, M. Kapp\",\"doi\":\"10.15406/icpjl.2017.05.00123\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Case 1: A 9year old male was referred for fever, fatigue, and pancytopenia. Bone marrow analysis revealed hypercellularity with a mixture of myeloblasts and immature monocytes comprising 90% of cells as determined by both morphology and flow cytometry. Molecular analysis for mutations in FLT3, NMP1 and C-KIT were negative, and FISH revealed rearrangement of RUNX1 locus in the chromosome 7p22 region. analysis confirmed this finding, revealing a unique translocation:46,XY, t(7;21) (p22;q22). Three adults and one child have been reported in the literature with AML or high grade MDS with t(7;21) involving RUNX1-ubiquitin-specific protease gene (USP42) fusion; however, no consistent prognostic information has emerged from these cases to date.1 Our patient had reinduction chemotherapy and is currently in remission, awaiting stem cell transplant.\",\"PeriodicalId\":92215,\"journal\":{\"name\":\"International clinical pathology journal\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2017-10-04\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"International clinical pathology journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.15406/icpjl.2017.05.00123\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"International clinical pathology journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.15406/icpjl.2017.05.00123","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Unique RUNX1 gene rearrangements in acute myeloid Leukemia (AML)
Case 1: A 9year old male was referred for fever, fatigue, and pancytopenia. Bone marrow analysis revealed hypercellularity with a mixture of myeloblasts and immature monocytes comprising 90% of cells as determined by both morphology and flow cytometry. Molecular analysis for mutations in FLT3, NMP1 and C-KIT were negative, and FISH revealed rearrangement of RUNX1 locus in the chromosome 7p22 region. analysis confirmed this finding, revealing a unique translocation:46,XY, t(7;21) (p22;q22). Three adults and one child have been reported in the literature with AML or high grade MDS with t(7;21) involving RUNX1-ubiquitin-specific protease gene (USP42) fusion; however, no consistent prognostic information has emerged from these cases to date.1 Our patient had reinduction chemotherapy and is currently in remission, awaiting stem cell transplant.