scholarly journals Real-time PCR-based analysis of BRAF V600E mutation in low and intermediate grade lymphomas confirms frequent occurrence in hairy cell leukaemia

2011 ◽  
Vol 30 (4) ◽  
pp. 190-193 ◽  
Author(s):  
Mark Ewalt ◽  
Subhadra Nandula ◽  
Adrienne Phillips ◽  
Bachir Alobeid ◽  
Vundavalli V. Murty ◽  
...  
Keyword(s):  
Real Time ◽  
Real Time Pcr ◽  
Braf V600e Mutation ◽  
Hairy Cell Leukaemia ◽  
Frequent Occurrence ◽  
Braf V600e ◽  
Cell Leukaemia ◽  
Hairy Cell ◽  
Intermediate Grade

BRAF V600E Mutation Appears Specific for Hairy Cell Leukemia Among Low and Intermediate Grade B-Cell Lymphomas: Utility of a Real Time PCR Based Approach for Detection

Blood ◽  
2011 ◽  
Vol 118 (21) ◽  
pp. 2635-2635
Author(s):  
Mark Ewalt ◽  
Subhadra Nandula ◽  
Adrienne A. Phillips ◽  
Vundavalli Murty ◽  
Mahesh Mansukhani ◽  
...  
Keyword(s):  
Real Time ◽  
Tumor Cells ◽  
Real Time Pcr ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Hairy Cell ◽  
Cell Leukemia ◽  
Pcr Assay ◽  
Neoplastic Cells ◽  
Intermediate Grade

Abstract Abstract 2635 BACKGROUND: Hairy cell leukemia (HCL) is a rare type of B-cell non Hodgkin lymphoma (B-NHL), which is characterized by neoplastic cells exhibiting slender cytoplasmic projections and an activated phenotype. Unlike other B-NHL, HCL lacks characteristic recurrent chromosome abnormalities and its etiology remains elusive. Recently, the BRAF V600E mutation was described to occur at a high frequency in HCL in contrast to other B-NHL, suggesting that the BRAF V600E mutation could represent a disease defining lesion and a possible therapeutic target. In this study, we determined the prevalence of the BRAF V600E mutation in a large series of low and intermediate grade B-NHL and assessed the relationship of this mutation, if any, with microsatellite instability (MSI). METHODS: DNA was extracted from various low and intermediate grade B-NHL (n=100), as defined by the 2008 World Health Organization Classification, which comprised HCL (n=10 from 6 patients), chronic lymphocytic leukemia/small lymphocytic lymphoma (n=22), mantle cell lymphoma (n=19), marginal zone lymphoma (n=22), follicular lymphoma (n=20) and lymphoplasmacytic lymphoma (n=7). Percentage of neoplastic cells was assessed by flow cytometry (n=99) or immunohistochemistry (n=1). Presence of BRAF V600E mutation was determined using a real time PCR assay using allele-specific hydrolysis (“Taqman”) probes. The detection limit of the assay was determined by diluting DNA extracted from a fresh HCL sample with normal high molecular weight DNA extracted by the same method. MSI analysis was performed using a multiplex reaction for 5 quasi monomorphic mononucleotide repeat markers (BAT-25, BAT-26, MONO-27, NR-21 and NR-24) and two highly polymorphic penta nucleotide markers (Penta C and Penta D) as sample identifiers. In the absence of normal DNA for comparison, a sample was considered MSI-H if greater than two markers showed an altered pattern, indeterminate if only two showed an alteration and MSS if no marker showed an altered allele. RESULTS: The ubiquitous occurrence and high specificity of the BRAF V600E mutation for HCL was confirmed in our series of B-NHL. The HCL samples consisted of 10 specimens from 6 patients and were the initial diagnostic specimen in 2 patients. The percentage of neoplastic cells in these samples ranged from 1% to 78.4% (median 18.2%). The BRAF V600E mutation was detected in 7 of 10 (70%) samples of HCL from 5 of 6 (83%) patients. The proportion of hairy cells was ≤5% in samples where the mutation was not detected. All 90 of the other low and intermediate grade B-NHL (>50% tumor burden) were negative for the V600E mutation. Compared to the reported sensitivity of approximately 30% tumor cells for detecting the BRAF V600E mutation by Sanger sequencing, our real time PCR assay allowed detection of the mutation in samples containing ≥9.8% tumor cells. Analysis of the HCL cases for MSI revealed that all cases had a microsatellite stable (MSS) phenotype. CONCLUSIONS: The BRAF V600E mutation appears specific for HCL among low and intermediate grade B-NHL and is not associated with microsatellite instability. These characteristics thus warrant inclusion in disease definition. Further refinements of a realtime PCR based approach for detecting the BRAF V600E mutation might be of utility in diagnosis and disease monitoring, as the neoplastic cellular yield is often limited in HCL due to underlying myelofibrosis. Disclosures: No relevant conflicts of interest to declare.

Correlation of the BRAF V600E mutation in hairy cell leukaemia with morphology, cytochemistry and immunophenotype

2012 ◽  
Vol 34 (4) ◽  
pp. 417-421 ◽  
Author(s):  
S. E. LANGABEER ◽  
D. O’BRIEN ◽  
S. LIPTROT ◽  
C. M. FLYNN ◽  
P. J. HAYDEN ◽  
...  
Keyword(s):  
Braf V600e Mutation ◽  
Hairy Cell Leukaemia ◽  
Braf V600e ◽  
Cell Leukaemia ◽  
Hairy Cell

Real-world experience of BRAF V600E mutation testing in hairy cell leukaemia

2020 ◽  
pp. jclinpath-2020-207246
Author(s):  
Stephen E Langabeer ◽  
David O'Brien ◽  
Sarah McCarron ◽  
C Larry Bacon ◽  
Elisabeth Vandenberghe
Keyword(s):  
Real World ◽  
Mutation Testing ◽  
Braf V600e Mutation ◽  
Hairy Cell Leukaemia ◽  
Braf V600e ◽  
Cell Leukaemia ◽  
Hairy Cell

scholarly journals Two Atypical Cases of Classical Hairy Cell Leukaemia and Hairy Cell Leukaemia Variant: A Case Study

2020 ◽  
Vol 1 ◽  
Author(s):  
S.A.C.D. Ranatunga ◽  
B.L.T. Balasuriya ◽  
C.C. Kariyawasan
Keyword(s):  
Bone Marrow ◽  
B Cell ◽  
Clinical Findings ◽  
Braf V600e Mutation ◽  
Hairy Cell Leukaemia ◽  
Braf V600e ◽  
Full Blood Count ◽  
Cell Leukaemia ◽  
Hairy Cell ◽  
Cervical Lymph Nodes

Introduction: Classical Hairy Cell Leukaemia (cHCL) and Hairy Cell Leukaemia variant (HCL-v) are both rare and slow-growing mature B cell neoplasms. According to flowcytometry data, they fall into the group classified as CD5- CD10- B cell lymphoproliferative disorders. Methods: Two cases with features atypical to two neoplasms at the time of diagnosis were studied. Results: Case 1 was a 15 year old male with right cervical lymph nodes (1x1 cm) in the posterior triangle, a few ecchymotic patches on the arm and a massive splenomegaly. C-reactive protein (CRP) level was 53 mg/dL. Erythrocyte Sedimentation Rate (ESR) was 98 mm/1 st hour. Full Blood Count (FBC) revealed typical features of pancytopenia with monocytopenia. The liver and renal profiles were normal. Morphology of bone marrow was suggestive of cHCL. Flowcytometry and BRAF V600E mutation was positive confirming the diagnosis of cHCL. Case 2 was a 55 year old male presenting with moderate splenomegaly and absolute lymphocytosis. The FBC revealed leukocytosis which is commonly seen with monocytopenia. Blood pictures revealed many hairy cells with moderately basophilic cytoplasm and visible nucleoli suggesting HCL-v. Flowcytometry findings and negative BRAF V600E mutation confirmed HCL-v. Conclusions: Clinical findings, blood images, morphology of bone marrow, flowcytometric findings and positive BRAF V600E mutation confirmed the diagnosis of cHCL in case 1 (15 year old boy) making it as a very rare case. The morphological findings on blood, the presence of characteristic CD markers on flowcytometry and negativity of BRAF V600E confirmed the case 2 as HCL-v, despite having CD10 positivity and monocytopenia.Keywords: Flowcytometric immunophenotyping, Hairy cell leukaemia, Hairy cell leukaemia variant

Abstract 411: Sensitive detection of BRAF V600E mutation by bridged nucleic acid (BNA)-mediate real-time PCR assay

2016 ◽  
Author(s):  
Xiaoyun Liu ◽  
Leticia Loredo ◽  
Houquan Dai ◽  
Aaron Castro ◽  
Yuewei Zhao ◽  
...  
Keyword(s):  
Nucleic Acid ◽  
Real Time ◽  
Real Time Pcr ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Sensitive Detection ◽  
Pcr Assay

BRAF V600E Mutation Analysis in Papillary Thyroid Carcinomas by Peptide Nucleic Acid Clamp Real-time PCR

2012 ◽  
Vol 20 (3) ◽  
pp. 759-766 ◽  
Author(s):  
Dongjun Jeong ◽  
Yujun Jeong ◽  
Ji Hye Park ◽  
Sun Wook Han ◽  
Sung Yong Kim ◽  
...  
Keyword(s):  
Nucleic Acid ◽  
Real Time ◽  
Mutation Analysis ◽  
Real Time Pcr ◽  
Peptide Nucleic Acid ◽  
Braf V600e Mutation ◽  
Braf V600e ◽  
Papillary Thyroid ◽  
Thyroid Carcinomas

Molecular detection of BRAF‐V600E is superior to flow cytometry for disease evaluation in hairy cell leukaemia

2013 ◽  
Vol 32 (3) ◽  
pp. 158-161 ◽  
Author(s):  
Tom Rider ◽  
Robert Powell ◽  
R. Gover ◽  
Richard Ansell ◽  
Sarah Bastow ◽  
...  
Keyword(s):  
Flow Cytometry ◽  
Molecular Detection ◽  
Hairy Cell Leukaemia ◽  
Braf V600e ◽  
Cell Leukaemia ◽  
Hairy Cell
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