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 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 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 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 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 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 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 Among lymphoproliferative disorders, BRAF mutations are restricted to HCL. 23161722 2012
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 However, the requisite analytic performance for a clinical assay to routinely detect BRAF V600E mutations in HCL has not been clearly defined. 24503706 2015