Coexistence of Primary Myelofibrosis and Paroxysmal Nocturnal Hemoglobinuria Clone with JAK2 V617F, U2AF1 and SETBP1 Mutations: A Case Report and Brief Review of Literature
- 주제(키워드) case report , primary myelofibrosis , paroxysmal nocturnal hemoglobinuria , JAK2 V617F , U2AF1 mutation , SETBPT1 mutation
- 주제(기타) Medicine, General & Internal
- 설명문(일반) [Park, Sholhui; So, Min-Kyung; Huh, Jungwon] Ewha Womans Univ, Coll Med, Dept Lab Med, Seoul 07804, South Korea; [Cho, Min-Sun] Ewha Womans Univ, Coll Med, Dept Pathol, Seoul 07804, South Korea; [Kim, Dae-Young] Ewha Womans Univ, Coll Med, Dept Internal Med, Seoul 07804, South Korea
- 등재 SCIE, SCOPUS
- OA유형 Green Published, gold
- 발행기관 MDPI
- 발행년도 2021
- 총서유형 Journal
- URI http://www.dcollection.net/handler/ewha/000000183581
- 본문언어 영어
- Published As http://dx.doi.org/10.3390/diagnostics11091644
- PubMed https://pubmed.ncbi.nlm.nih.gov/34573985
초록/요약
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.
more