Myeloproliferative Neoplasm, BCR-ABL1 Negative

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

Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016.

PMID 27069254 · Arber et al., 2016 · Open in CIViC

TG101348 effectively inhibits STAT5 signaling in JAK2 V617F cells.

PMID 18394554 · Wernig et al., 2008 · Open in CIViC

In patients with JAK2 V617F, the use of pegylated IFN-alpha-2a leads to reduction in the percentage of cells harboring JAK2 V617F.

PMID 16709929 · Kiladjian et al., 2006 · Open in CIViC

Diagnostic criterion for essential thrombocytemia according to the World Health Organization (WHO) classification of tumors of the hematopoietic and lymphoid tissues 2016.

PMID 27069254 · Arber et al., 2016 · Open in CIViC

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

A case report revealed a 7 month old male infant of Bangladesh ethnicity with a novel homozygous VHL germline missense (c.376G>A; p.Asp126Asn) mutation with congenital polycythemia and dramatically el… (full text at CIViC)

PMID 24729484 · Sarangi et al., 2014 · Open in CIViC

A 12 year old white male child presented with polycythemia. Genetic testing confirmed a germline missense mutation found at c.571C>G (p.His191Asp) in the VHL gene. This is the only other case of a hom… (full text at CIViC)

PMID 16617601 · Hajnzić et al., 2006 · Open in CIViC

Plasma concentrations of Th1 and Th2 cytokines were analyzed using the Bio-Plex multiplex suspension array system in 34 homozygotes VHL patients, 4 heterozygous VHL patients, and 32 VHL wild-type part… (full text at CIViC)

PMID 19062180 · Niu et al., 2009 · Open in CIViC