14) The presence of both SF3B1
and JAK2 mutations is diagnostic and prognostic for refractory anemia with ring sideroblasts with thrombocytosis, (15) now classified as a specific subtype of MDS/MPN.
sup] More recently, several novel gene mutations have been identified using next-generation sequencing approaches, including NOTCH1 , MYD88 , SF3B1
, NRAS , KRAS , and others.
The company has worldwide rights to worldwide rights to nucleophosmin-1 (NPM1), an informative biomarker for acute myelogenous leukemia (AML) and mutations in the SF3B1
However, it was shown that patients with disomy 3 tumors and SF3B1
mutations have increased risk of metastatic disease at a longer follow-up time (Koopmans AE, Prognostic implications of acquired genetic changes in uveal melanoma.
56) Moreover, among splicesome mutations, SF3B1
mutations are closely associated with a specific type of MDS, RARS (refractory anemia with ringed sideroblast); 57-75% of RARS patients harbor SF3B1
today announced it has acquired an exclusive global license to the biomarker SF3B1
from the University of Tokyo.
In addition, mutations in genes involved in the RNA-splicing machinery, such as SF3B1
(splicing factor 3b, subunit 1, 155kDa), SRSF2 (serine/arginine-rich splicing factor 2), U2AF1 [U2 small nuclear RNA auxiliary factor 1 (also known as U2AF35)], and ZRSR2 [zinc finger (CCCH type), RNA-binding motif and serine/arginine rich], have recently been identified in MDS and in chronic myelomonocytic leukemia (CMML), as well as in AML and MPN at lower frequencies (5-7).
NeoGenomics now provides mutation analysis of the following genes, either individually or as a group: SF3B1
, U2AF1, SRSF2, ZRSR2, RUNX1, EZH2, ASXL1, TET2, TP53, NRAS, CBL, PTPN11, IDH1/2 and ETV6.
Researchers at the Wellcome Trust Sanger Institute identified the SF3B1
gene as being frequently mutated in myelodysplasia, one of the most common forms of blood cancer.
This laboratory-developed NGS test protocol is based on a well-validated research use-only kit that targets 54 genes, including all exons of 15 genes (BCOR, BCORL1, CDKN2A, CEBPA, CUX1, DNMT3A, ETV6, EZH2, IKZF1, KDM6A, PHF6, RAD21, RUNX1, STAG2, and ZRSR2) and hot spot exons/regions of 39 genes (ABL1, ASXL1, ATRX, BRAF, CALR, CBL, CBLB, CBLC, CSF3R, FBXW7, FLT3, GATA1, GATA2, GNAS, HRAS, IDH1, IDH2, JAK2, JAK3, KIT, KMT2A/MLL, KRAS, MPL, MYD88, NOTCH1, NPM1, NRAS, PDGFRA, PTEN, PTPN11, SETBP1, SF3B1
, SMC1A, SMC3, SRSF2, TET2, TP53, U2AF1, and WT1).
25 July 2014 - Dutch genetic-testing specialist Qiagen NV (ETR:QIA; NASDAQ:QGEN) said yesterday it had exclusively licensed from Japanese University of Tokyo the biomarker SF3B1
, implicated in the prognosis of myelodysplastic syndromes (MDS), as well as three more spliceosome biomarkers involved in multiple blood cancers and targeting variants in the U2AF35 (U2AF1), ZRSR2 and SFRS2 genes.
and other novel cancer genes in chronic lymphocytic leukemia.