Disease: Hairy Cell Leukemia ×
Source: ALL
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 CausalMutation disease CGI
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 SomaticCausalMutation disease ORPHANET In immunohistologic and Western blot studies, HCL cells expressed phosphorylated MEK and ERK (the downstream targets of the BRAF kinase), indicating a constitutive activation of the RAF-MEK-ERK mitogen-activated protein kinase pathway in HCL. 21663470 2011
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 AlteredExpression disease BEFREE In immunohistologic and Western blot studies, HCL cells expressed phosphorylated MEK and ERK (the downstream targets of the BRAF kinase), indicating a constitutive activation of the RAF-MEK-ERK mitogen-activated protein kinase pathway in HCL. 21663470 2011
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE High resolution melting analysis for detection of BRAF exon 15 mutations in hairy cell leukaemia and other lymphoid malignancies. 21910720 2011
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE BRAF-V600E was detected at different time points during the disease course, even after therapy, pointing to its pivotal role in HCL pathogenesis and maintenance of the leukemic clone. 22028477 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE We conclude that the BRAF V600E mutation is present in all patients with HCL and that, in combination with clinical and morphologic features, represents a reliable molecular marker for this condition. 22072557 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Furthermore, high resolution melting with confirmatory Sanger sequencing are useful methods that can be employed in routine diagnostic laboratories to detect BRAF mutations in patients with hairy cell leukemia and related lymphoproliferative disorders. 22133769 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 Biomarker disease BEFREE Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600. 22210875 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Recently, the BRAF V600E mutation was uniformly identified in one HCL series, which may provide insights into the pathogenic mechanisms. 22212971 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Thus, in conjunction with prior data, our results suggest incorporation of BRAF V600E mutation analysis in the diagnostic workup of HCL cases. 22246856 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Detection of the BRAF V600E mutation is therefore a useful adjunct in the differential diagnosis of HCL and HCL variant and highlights the value of a multifaceted approach to the diagnosis of this malignancy. 22313586 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Diagnostically, the BRAF(V600E) mutation is a powerful molecular marker for papillary thyroid carcinoma and, quite possibly, hairy cell leukemia as well. 22369373 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE In this study we investigated the application of a BRAF V600E mutation-specific antibody (clone VE1) to differentiate HCL from HCL mimics, such as HCL variant and splenic marginal zone lymphoma. 22531170 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Especially, BRAF mutations have been detected in almost all patients with HCL that may have implications for pathogenesis, diagnosis, and targeted therapy. 22541613 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Moreover, our pyrosequencing-based assay provides a convenient, rapid, sensitive, and quantitative tool for the detection of BRAF p.V600E mutations in HCL for clinical diagnostic testing. 22706871 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Among lymphoproliferative disorders, BRAF mutations are restricted to HCL. 23161722 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE We conclude that the presence of pERK as detected by immunohistochemical staining is a useful surrogate marker for BRAF V600E in the diagnosis of HCL. 23211289 2013
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Besides confirming the constant presence of BRAF-V600E in all patients with hairy cell leukemia, we observed ubiquitous phospho-ERK expression in this malignancy. 23349307 2013
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE Importantly, SkE resensitized the PLX-4032-resistant 451Lu melanoma cell line (451Lu-R) and was more efficient than U0126, a MEK inhibitor, and PLX-4032 (PLX) at inducing the apoptosis of two hairy cell leukemia (HCL) patient samples carrying the B-Raf-V600E mutation. 23518796 2012
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE BRAF mutation is seen in melanoma, papillary thyroid carcinoma (including papillary thyroid carcinoma arising from ovarian teratoma), ovarian serous tumours, colorectal carcinoma, gliomas, hepatobiliary carcinomas and hairy cell leukaemia. 23594689 2013
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE The thymidine kinase inhibitor vemurafenib, which inhibits the V600E mutant of BRAF, was reported to induce a CR in multiply relapsed and refractory HCL, with nearly complete clearing of MRD. 23892906 2013
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 Biomarker disease BEFREE Several genetic alterations are intuitively "druggable" with existing agents, for example, kinase-activating lesions in high-risk B-cell ALL, NOTCH1 in both leukemia and lymphoma, and BRAF in hairy cell leukemia. 24041576 2013
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 SomaticCausalMutation disease ORPHANET High prevalence of MAP2K1 mutations in variant and IGHV4-34-expressing hairy-cell leukemias. 24241536 2014
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE In contrast with the classic form, variant hairy cell leukemia (HCLv) responds poorly to single-agent purine analogs, expresses unmutated BRAF, has shorter overall survival, and lacks effective standard therapy. 24277451 2013
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia 		0.600 GeneticVariation disease BEFREE We therefore suggest screening of BRAF V600E-negative HCL for alternative exon 11 mutations in the diagnostic setting. 24433452 2014