Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE This review summarizes current knowledge regarding the role of BRAF in lymphoid and myeloid neoplasms, with a focus on hairy-cell leukemia, Langerhans cell histiocytosis, and Erdheim-Chester disease. 24495477 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE However, the requisite analytic performance for a clinical assay to routinely detect BRAF V600E mutations in HCL has not been clearly defined. 24503706 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Advanced molecular techniques have identified distinct molecular aberrations in the Raf/MEK-ERK pathway and BRAF (V600E) mutations that drive the proliferation and survival of HCL B cells. 24652320 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. 24689848 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Discovery of the BRAF V600E mutation as a disease-defining genetic event in hairy cell leukemia can be helpful in both differential diagnosis and treatment of this disease. 24789721 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Unearthing of the BRAF mutation in self-renewing hematopoietic stem cells reveals an unexpected origin for hairy cell leukemia-a mature B cell malignancy-and a potential new therapeutic target (Chung et al., this issue). 24871129 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE In 2011, the V600E mutation of the BRAF gene in exon 15 was identified in HCL; being present in HCL, it is absent in the variant form of HCL (HCL-v) and in splenic red pulp lymphoma (SRPL), two entities related to HCL. 24994538 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE We investigated BRAF mutations in 36 subjects with different forms of SM, but could not detect BRAF mutation in any of the cases, not even in the mast cell lineage of a patient with V600E BRAF-positive HCL. 25034364 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Using this BRAF V600E mutation specific antibody, this immunohistochemical study has 100% sensitivity and 100% specificity for the diagnosis of HCL in our cohort. 25120816 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE BRAF inhibitors reverse the unique molecular signature and phenotype of hairy cell leukemia and exert potent antileukemic activity. 25480661 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE A BRAF V600E mutation was detected in 17 (77.3%) of 22 HCL cases by PCR. 25511147 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The two VE1-negative HCL cases had BRAF V600 mutations proven by molecular analysis. 25511150 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE Currently, the most promising therapeutic strategies for relapsed or refractory HCL include recombinant immunoconjugates targeting CD22 (e.g. moxetumomab pasudotox), BRAF inhibitors such as vemurafenib and B cell receptor signaling kinase inhibitors such as ibrutinib. 25563425 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE This report presents a patient with HCL and malignant melanoma with the BRAF p.V600E mutation, and discusses the successful treatment of both cancers with the BRAF inhibitor dabrafenib. 25583765 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE In this issue of Blood, Pettirossi et al, including Drs Tiacci and Falini, who led the effort in 2011 defining the BRAF-V600E driving mutation in hairy cell leukemia (HCL),provide extensive laboratory studies showing that inhibitors of BRAF-V600E and/or mitogen-activated protein kinase kinase (MEK) reach their targets and cause HCL cell death 25700421 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE We compared the ability of Sanger sequencing, fluorescent single-strand conformational polymorphism (F-SSCP) and high resolution melting (HRM) analysis to detect BRAF mutations in 20 cases of HCL consisting of four archival Romanowsky stained air-dried peripheral blood and bone marrow aspirate smears, 12 mercury fixed decalcified bone marrow trephine biopsies, three formalin fixed, paraffin embedded (FFPE) splenectomy samples and one fresh peripheral blood sample. 25938346 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Cell lines originating from HCL patients lack BRAF mutations but retain the typical piliferous morphology and the distinctive HCL immunophenotype, thus, constituting suitable tools for identifying alternative tumor genes and leukemic mechanisms in this malignancy. 25960206 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE Identification of the BRAFV600E mutation in nearly 100% of HCL patients has provided rationale for inclusion of BRAF inhibitors into the therapeutic armamentarium to treat HCL. 26049757 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The detection of BRAF V600E by IHC is useful in the distinction of HCLs from other splenic-based lymphomas, although the identification of at least rare SMZLs containing this abnormality illustrates the continuing need for a multiparameter approach to diagnosis. 26071465 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE A better understanding of any potential association between HCL and skin cancer is highly relevant given ongoing trials using BRAF inhibitors, such as vemurafenib, for relapsed HCL, as RAS-mutant skin cancers could be paradoxically activated in these patients. 26115047 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The precise cellular origin of HCL remains elusive but BRAF mutations were detected in hematopoietic stem cells of patients with HCL. 26154707 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 AlteredExpression disease BEFREE We assessed the safety and activity of the oral BRAF inhibitor vemurafenib in patients with hairy-cell leukemia that had relapsed after treatment with a purine analogue or who had disease that was refractory to purine analogues. 26352686 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE Modern approaches to the evaluation and treatment of HCL include detailed molecular analysis which informs therapeutic options, which may consist of traditional therapies such as purine nucleoside analogs, or targeted therapies with antibodies, BTK inhibitors, or BRAF inhibitors, or combination therapy. 26614894 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The discovery of the BRAF V600E mutation in most cases of classical hairy cell leukemia opens up unique opportunities for tumor specific treatment of HCL targeting the MEK/ERK signaling pathway. 26614903 2015
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE As mutant BRAF alone is insufficient to drive malignant transformation in other histological cancers, it suggests that individual tumours utilise largely differing patterns of genetic somatic mutations to coalesce with BRAF V(600)E to drive pathogenesis of malignant HCLc disease. 26871591 2016