Coexistence of primary myelofibrosis and paroxysmal nocturnal hemoglobinuria clone with jak2 v617f, u2af1 and setbp1 mutations: A case report and brief review of literature

Sholhui Park, Min Kyung So, Min Sun Cho, Dae Young Kim, Jungwon Huh

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

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.

Original languageEnglish
Article number1644
JournalDiagnostics
Volume11
Issue number9
DOIs
StatePublished - Sep 2021

Bibliographical note

Publisher Copyright:
© 2021 by the authors. Licensee MDPI, Basel, Switzerland.

Keywords

  • Case report
  • JAK2 V617F
  • Paroxysmal nocturnal hemoglobinuria
  • Primary myelofibrosis
  • SETBPT1 mutation
  • U2AF1 mutation

Fingerprint

Dive into the research topics of 'Coexistence of primary myelofibrosis and paroxysmal nocturnal hemoglobinuria clone with jak2 v617f, u2af1 and setbp1 mutations: A case report and brief review of literature'. Together they form a unique fingerprint.

Cite this