View : 434 Download: 110
Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone with JAK2 V617F, U2AF1 and SETBP1 Mutations: A Case Report and Brief Review of Literature
- Title
- Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone with JAK2 V617F, U2AF1 and SETBP1 Mutations: A Case Report and Brief Review of Literature
- Authors
- Park, Sholhui; So, Min-Kyung; Cho, Min-Sun; Kim, Dae-Young; Huh, Jungwon
- Ewha Authors
- 허정원; 조민선; 박설희; 김대영
- SCOPUS Author ID
- 허정원; 조민선; 박설희; 김대영
- Issue Date
- 2021
- Journal Title
- DIAGNOSTICS
- ISSN
- 2075-4418
- Citation
- DIAGNOSTICS vol. 11, no. 9
- Keywords
- case report; primary myelofibrosis; paroxysmal nocturnal hemoglobinuria; JAK2 V617F; U2AF1 mutation; SETBPT1 mutation
- Publisher
- MDPI
- Indexed
- SCIE; SCOPUS
- Document Type
- Review
- Abstract
- Primary myelofibrosis (PMF) and paroxysmal nocturnal hemoglobinuria (PNH) are very rare diseases, respectively, and it is uncommon to have both diseases together. Mutational profiling using next-generation sequencing in PMF and PNH detected additional mutations associated with myeloid neoplasms, suggesting a step-wise clonal evolution. We present here a very rare case with PMF and PNH with JAK2 V617F, U2AF1 and SETBP1 mutations at the time of diagnosis. The combination of these two diseases and three genetic mutations is difficult to interpret at once. (i.e., the sequence of these two clonal diseases or the time points of acquiring these mutations). Our report suggests that when diagnosing or treating patients with PMF, it is necessary to keep in mind that PNH may be present at the same time or sometimes new. The genetic mutations simultaneously found in this patient require further research to elucidate the clinical significance and their genetic associations fully.
- DOI
- 10.3390/diagnostics11091644
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
- Files in This Item:
-
diagnostics-11-01644.pdf(861.27 kB)
Download
- Export
- RIS (EndNote)
- XLS (Excel)
- XML