JAK2V617F 돌연변이를 보인 비정형만성골수성백혈병 1예A Case of Atypical Chronic Myeloid Leukemia with the JAK2V617F Mutation
- Other Titles
- A Case of Atypical Chronic Myeloid Leukemia with the JAK2V617F Mutation
- Authors
- 김주연; 이세련; 남명현; 윤수영; 임채승; 이창규; 김병수; 조윤정; 김영기; 이갑노
- Issue Date
- 2011
- Publisher
- 대한진단검사의학회
- Keywords
- Atypical chronic myeloid leukemia; JAK2; Myeloproliferative disorder; Myelodysplastic syndrome; BCR-ABL1
- Citation
- Laboratory Medicine Online, v.1, no.4, pp.232 - 236
- Indexed
- KCI
OTHER
- Journal Title
- Laboratory Medicine Online
- Volume
- 1
- Number
- 4
- Start Page
- 232
- End Page
- 236
- URI
- https://scholar.korea.ac.kr/handle/2021.sw.korea/113570
- ISSN
- 2093-6338
- Abstract
- Atypical chronic myeloid leukemia (aCML) is a rare leukemic disorder that shows myelodysplastic and myeloproliferative features simultaneously.
The Janus kinase 2 gene V617F mutation (JAK2V617F) in aCML has been the source of much controversy. Some JAK2V617F positive cases have been reported but others observed no JAK2V617F mutation in aCML as defined by WHO classification. Recently, we experienced a case of aCML with JAK2V617F mutation with typical myelodysplastic/myeloproliferative features in peripheral blood and bone marrow aspirates. The karyotype was normal and no BCR/ABL1, PDGFRA or PDGFRB gene rearrangement was noted with FISH analysis. JAK2V617F mutation of the case was identified with amplification refractory mutation system PCR and direct sequencing. We also studied JAK2V617F mutation status in 3 additional cases of previously diagnosed aCML in our institution, but no mutation was identified.Atypical chronic myeloid leukemia (aCML) is a rare leukemic disorder that shows myelodysplastic and myeloproliferative features simultaneously. The Janus kinase 2 gene V617F mutation (JAK2V617F) in aCML has been the source of much controversy. Some JAK2V617F positive cases have been reported but others observed no JAK2V617F mutation in aCML as defined by WHO classification. Recently, we experienced a case of aCML with JAK2V617F mutation with typical myelodysplastic/myeloproliferative features in peripheral blood and bone marrow aspirates. The karyotype was normal and no BCR/ABL1, PDGFRA or PDGFRB gene rearrangement was noted with FISH analysis. JAK2V617F mutation of the case was identified with amplification refractory mutation system PCR and direct sequencing. We also studied JAK2V617F mutation status in 3 additional cases of previously diagnosed aCML in our institution, but no mutation was identified.
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Collections - College of Medicine > Department of Medical Science > 1. Journal Articles
- Graduate School > Department of Biomedical Sciences > 1. Journal Articles
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