Essential thrombocythaemia with aggressive megakaryocytosis after myelofibrotic transformation.
Essential thrombocythaemia (ET)
JAK2 V617F
U2AF1 S34Y
post-essential thrombocythaemia myelofibrosis (post-ET MF)
prefibrotic/early stage primary myelofibrosis (PMF)
Journal
Hematology (Amsterdam, Netherlands)
ISSN: 1607-8454
Titre abrégé: Hematology
Pays: England
ID NLM: 9708388
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
entrez:
17
8
2021
pubmed:
18
8
2021
medline:
31
8
2021
Statut:
ppublish
Résumé
Among myeloproliferative neoplasms, it is often difficult to distinguish essential thrombocythaemia (ET) from prefibrotic-stage primary myelofibrosis (PMF) with thrombocytosis given their overlapping clinicopathological phenotypes. We encountered a 45-year-old male who was initially diagnosed with ET and eventually became transformed to secondary myelofibrosis 20 years later. Two distinct types of aberrant megakaryocytes were observed at diagnosis: one type characteristic of ET and the other type characteristic of PMF. With a proliferation in the bone marrow, aberrant megakaryocytes were infiltrated into the extramedullary organs and were even present in the thrombus were observed at autopsy. As a result of next-generation sequencing, the significant increase of variant allele frequency (VAF) of This patient could be recognized as an atypical case of aggressive megakaryocytosis transformed from ET.
Sections du résumé
BACKGROUND
BACKGROUND
Among myeloproliferative neoplasms, it is often difficult to distinguish essential thrombocythaemia (ET) from prefibrotic-stage primary myelofibrosis (PMF) with thrombocytosis given their overlapping clinicopathological phenotypes.
CASE PRESENTATION
METHODS
We encountered a 45-year-old male who was initially diagnosed with ET and eventually became transformed to secondary myelofibrosis 20 years later. Two distinct types of aberrant megakaryocytes were observed at diagnosis: one type characteristic of ET and the other type characteristic of PMF. With a proliferation in the bone marrow, aberrant megakaryocytes were infiltrated into the extramedullary organs and were even present in the thrombus were observed at autopsy. As a result of next-generation sequencing, the significant increase of variant allele frequency (VAF) of
CONCLUSIONS
CONCLUSIONS
This patient could be recognized as an atypical case of aggressive megakaryocytosis transformed from ET.
Identifiants
pubmed: 34402416
doi: 10.1080/16078454.2021.1965714
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM