Primary Myelofibrosis

An ASXL1 mutation, especially in conjunction with DNMT3A and EZH2 mutations, results in a fourfold increase in resistance to treatment with ruxolitinib and a reduced time to treatment discontinuation … (full text at CIViC)

PMID 26124496 · Patel et al., 2015 · Open in CIViC

Study of 428 patients with primary Myelofibrosis found that those patients harboring CALR exon 9 mutations displayed significantly longer survival than those with JAK2 mutations (HR: 2.5, median survi… (full text at CIViC)

PMID 25037629 · Tefferi et al., 2014 · Open in CIViC

In patients with primary myelofibrosis CALR mutations were associated with improved median survival. For 277 patients, CALR mutated, ASXL1 wildtype patients (median survival, 10.4 years, N=46); CALR w… (full text at CIViC)

PMID 24496303 · Tefferi et al., 2014 · Open in CIViC

In a study of 617 patients with primary myelofibrosis, 140 CALR-mutated patients harboring the type 1 (N=101, 52-bp deletion L367fs*46), the type 2 mutation (N=22, 5-bp insertion K385fs*47) or other i…

In a study of activation mutations in MPL were prognostically informative for overall survival. They occur in 4% with ET and 8% with Primary Myelofibrosis.

PMID 25037629 · Tefferi et al., 2014 · Open in CIViC

Found MPL W515L mutation in 4/45 MF patients' bone marrow but not cheek DNA. Expression of the mutated gene in cell cultures (BaF3, 3D, or UT-7 cells) resulted increased cell growth, and in mice (via … (full text at CIViC)

PMID 16834459 · Pikman et al., 2006 · Open in CIViC

In this study deep sequencing was performed on 185 patients with hematological malignancies, and the NTRK2 A203T substitution was detected in one case of primary myelofibrosis. The substitution is loc… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

Deep sequencing of samples from 185 patients with different hematological malignancies detected an NTRK2 A203T substitution in one case of primary myelofibrosis. When stably expressed into murine inte… (full text at CIViC)

PMID 32315394 · Joshi et al., 2020 · Open in CIViC

In a large study of patients with primary myelofibrosis evaluating mutations associated with anemia, 457 patients were evaluated for U2AF1 mutations. U2AF1 mutations were significantly associated with… (full text at CIViC)

PMID 27058230 · Barraco et al., 2016 · Open in CIViC