The mutational landscape of paroxysmal nocturnal hemoglobinuria revealed: New insights into clonal dominance Journal Article
| Authors: | Lee, S. C. W.; Abdel-Wahab, O. |
| Article Title: | The mutational landscape of paroxysmal nocturnal hemoglobinuria revealed: New insights into clonal dominance |
| Abstract: | Paroxysmal nocturnal hemoglobinuria (PNH) is a disorder of hematopoietic stem cells that has largely been considered a monogenic disorder due to acquisition of mutations in the gene encoding PIGA, which is required for glycosylphosphatidylinositol (GPI) anchor biosynthesis. In this issue of the JCI, Shen et al. discovered that PNH is in fact a complex genetic disorder orchestrated by many genetic alterations in addition to PIGA mutations. Some of these mutations predate the acquisition of PIGA mutations, while others occur later. Surprisingly, this work indicates that PNH has a clonal evolution and architecture strikingly similar to that of other myeloid neoplasms, highlighting a potentially broader mechanism of disease pathogenesis in this disorder. |
| Keywords: | gene sequence; somatic mutation; pathogenesis; review; biosynthesis; immune response; hematopoietic cell; x chromosome; cell mutant; paroxysmal nocturnal hemoglobinuria; aplastic anemia; landscape; clonal evolution; glycosylphosphatidylinositol; monogenic disorder; human |
| Journal Title: | Journal of Clinical Investigation |
| Volume: | 124 |
| Issue: | 10 |
| ISSN: | 0021-9738 |
| Publisher: | American Society for Clinical Investigation |
| Date Published: | 2014-10-01 |
| Start Page: | 4227 |
| End Page: | 4230 |
| Language: | English |
| DOI: | 10.1172/jci77984 |
| PROVIDER: | scopus |
| PUBMED: | 25244089 |
| PMCID: | PMC4191026 |
| DOI/URL: | |
| Notes: | Export Date: 3 November 2014 -- Source: Scopus |
