Journal of Hematology & Thromboembolic Diseases
Open Access
ISSN: 2329-8790
+44 1478 350008
ISSN: 2329-8790
+44 1478 350008
Research Article
WHO Clinical Molecular and Pathological (WHO-CMP) Features of Congenital MPLS505N and the Acquired MPLW515l/K Mutated Essential Thrombocythemia and Myelofibrosis
Author(s): Jan Jacques Michiels, Achille PICH, Hendrik de Raeve, Vitr Camp and Jiri SchwarzJan Jacques Michiels, Achille PICH, Hendrik de Raeve, Vitr Camp and Jiri Schwarz
We analysed the clinical and hematological features in 41 patients of seven families, including 21 ET patients with a proven MPLS505N mutation and 20 relatives with thrombocythemia reported in the medical records. Out of the 41 MPLS505N mutated individuals 15 major thrombotic episodes in 14 members (34%) were reported as Budd-Chiari syndrome age 17 in 1, deep vein thrombosis leg age 41 in 1,ecclampsia and fetal in 1, stroke at ages 43, 72, 76 and 80 in 4 and myocardial infarction at ages between 31-81 years, median 52 years. Fourteen out of 21 well documented MPLS505N mutated ET patients had no splenomegaly and were free of major thrombosis during follow-up at ages between 2 and 76 years (mean 31 years). Eight MPLS505N mutated patients had myelofibrosis (MF) from grade MF1 in 5 to grade MF2 in 3 at ages between 28-80 years (mean 48 years), which was associated with mild to moderate sp.. View More»
DOI:
10.4172/2329-8790.1000181