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 IMPLICATIONS FOR PRACTICE: Hairy cell leukemia (HCL) has effective treatments including purine analogs with and without rituximab, and oral inhibitors of BRAF, MEK and Bruton's tyrosine kinase (BTK). 31628266 2020
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The intestinal lymphoma bears the BRAF V600E mutant, which is the molecular hallmark of HCL, being implicated in its pathogenesis. 31354304 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE An overview of the major forms of treatment of HCL (cytostatic drugs, specific BRAF inhibitors, B cell-specific antibodies) is given. 31282776 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Mutation of BRAF V600E was pronounced in HCL, but "hairiness" was not linked to the mutation. 31538423 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Identification of the BRAF-V600E kinase mutation as the genetic cause of HCL has opened the way, in the relapsed/refractory experimental setting, to targeted and non-myelotoxic effective strategies that are based on inhibition of BRAF with vemurafenib, co-inhibition of BRAF and its target MEK with dabrafenib and trametinib, and BRAF inhibition with vemurafenib combined with anti-CD20 immunotherapy. 31187521 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE Expert opinion: Ongoing and planned studies will help to optimize the use of BRAF inhibitor therapy for HCL by determining the efficacy of BRAF inhibition in combination with other antigen targeted or molecularly targeted therapies, and more broadly, to determine how hematologists can best utilize and sequence emerging diagnostic and therapeutic modalities in the care of patients with newly diagnosed and relapsed or refractory HCL. 30782032 2019
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Many such genetic events have already demonstrated clinical utility, such as BRAF V600E that confers sensitivity to vemurafenib in patients with hairy cell leukemia. 29702524 2018
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE To the best of our knowledge, this is the first case of a co-occurring BRAF positive melanoma and HCL to be reported in a chemotherapy-naïve patient. 30680261 2018
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Hairy cell leukemia (HCL) is a rare, low-grade mature B-cell neoplasm with a characteristic clinical, morphological, immunophenotypic, and more recently described molecular (BRAF p.V600E mutation) profile. 30197362 2018
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE In order to investigate the suitability of MinION sequencing on formalin-fixed paraffin-embedded samples, the presence and frequency of BRAF c.1799T > A mutation was investigated in two archival tissue specimens of Hairy cell leukemia and Hairy cell leukemia Variant. 29238890 2018
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Our results confirm that BRAF V600E-positive HCL is a relatively rare disorder in the Japanese leukemia patient population. 30043333 2018
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE The recent application of high-throughput sequencing to NHL not only advances the understanding of disease pathogenesis and classification, but allows the discovery of new drug targets, such as BRAF gene inhibition in hairy cell leukemia. 27910030 2017
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Diagnosis of HCL is based on morphological evidence of hairy cells, an HCL immunologic score of 3 or 4 based on the CD11C, CD103, CD123, and CD25 expression, the trephine biopsy which makes it possible to specify the degree of tumoral medullary infiltration and the presence of BRAF V600E somatic mutation. 29110361 2017
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 Biomarker disease BEFREE Patients' leukemic cells exposed ex vivo to BRAF inhibitors are spoiled of their HCL identity and then undergo apoptosis. 28297625 2017
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE HCL variant and the IGHV4-34 molecular variant of HCL lack BRAF mutation and have inferior outcomes with standard purine analogue therapy. 28146266 2017
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
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE Sensitive molecular assays for detecting BRAF V600E allow HCL (highly responsive to purine analogs) to be better distinguished from HCL-like disorders, which are treated differently. 27554081 2016
CUI: C0023443
Disease: Hairy Cell Leukemia
Hairy Cell Leukemia
0.600 GeneticVariation disease BEFREE The recent surge in next generation sequencing (NGS) technology has shed more light on the genetic landscape of SBCLs through characterization of numerous driver mutations including SF3B1 and NOTCH1 in CLL, ATM and CCND1 in MCL, KMT2D and EPHA7 in FL, MYD88 (L265P) in LPL, KLF2 and NOTCH2 in splenic MZL (SMZL) and BRAF (V600E) in HCL. 27121112 2016
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 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 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 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 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 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