Prevalence and Clinicopathologic Significance of  BRAF V600E  Mutation in Chinese Multiple Myeloma Patients

Cheung, Coty Hy; Cheng, Chi Keung; Lau, Kin‐Mang; Ip, Rosalina K. L.; Chan, Nelson C N; Tam, Tommy H.C.; Wong, Raymond; Raghupathy, Radha; Chan, Natalie Pui Ha; Ng, Margaret H.L.

doi:10.1016/j.clml.2018.05.008

Cited by 9 publications

(17 citation statements)

References 19 publications

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“…KRAS and NRAS mutations were detected in 16% of patients, and BRAF V600E was in 14%. The prevalence was similar with the results from previous studies except for BRAF V600E, which was slightly higher than others [ 4 , 6 - 9 , 20 ]. This may be explained by the higher sensitivity of AS-PCR in detecting BRAF V600E compared to other molecular techniques, including pyrosequencing [ 21 ].…”

Section: Discussionsupporting

confidence: 91%

“…Mutations occur at codons 12 and 61 in KRAS and NRAS , respectively, preventing GTP hydrolysis and keeping RAS in its active state, subsequently activating the mitogen-activated protein kinase (MAPK) pathway [ 5 ]. In addition, about 5% (4% to 12%) of patients with PCM harbored the BRAF mutation at diagnosis, mostly on amino acid V600 [ 3 , 4 , 6 - 10 ]. BRAF V600E causes constitutive activation of the RAS pathway, presumably leading to increased cell growth and preventing apoptosis [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

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KRAS, NRAS, and BRAF mutations in plasma cell myeloma at a single Korean institute

et al. 2020

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Background Plasma cell myeloma (PCM) is a genetically heterogeneous disease. The genetic spectrum of PCM has been expanded to mutations such as KRAS, NRAS, and BRAF genes in the RAS-RAF-MAPK pathway. In this study, we have evaluated the frequency of these mutations and their significance, including baseline characteristics and clinical outcomes. Methods We explored 50 patients who were newly diagnosed with PCM between 2009 and 2012 at a single Korean institute. Clinical and laboratory parameters were gathered through careful review of medical records. Mutation analysis was carried out using DNA from the bone marrow at the time of diagnosis. Pyrosequencing was performed to detect KRAS G12V, KRAS G13D, and NRAS G61R. BRAF V600E was analyzed by allele-specific real-time PCR. Comparison of clinical and laboratory parameters was carried out according to those mutations. Results We identified 14 patients (28%) with activating mutations in the RAS-RAF-MAPK pathway (RAS/RAF mutations): KRAS (N=3), NRAS (N=4), BRAF (N=7), and both KRAS and BRAF (N=1). RAS/RAF mutations were more frequently observed in patients with complex karyotypes and showed poorer progression free survival (PFS). Specifically, the BRAF V600E mutation had a significantly negative impact on median PFS. Conclusion We first showed the frequency of RAS/RAF mutations in Korean patients with PCM. Screening of these mutations could be considered as a routine clinical test at the time of diagnosis and follow-up due to their influence on clinical outcome, as well as its potential as a therapeutic target.

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Section: Discussionsupporting

confidence: 91%

Section: Introductionmentioning

confidence: 99%

KRAS, NRAS, and BRAF mutations in plasma cell myeloma at a single Korean institute

et al. 2020

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“…Driver mutations in the BRAF gene, a key player in the RAS-RAF-MAPK-ERK pathway, are described in multiple tumor types, including subsets of melanoma, nonsmall cell lung cancer, and anaplastic thyroid cancer, making BRAF a desirable target for inhibition [ 3 ]. BRAF V600E, the most common BRAF mutation, has been identified in 2.4% to 5.3% multiple myeloma patients in the Western countries [ 4 – 8 ].…”

Section: Introductionmentioning

confidence: 99%

Combination of Dabrafenib and Trametinib for the Treatment of Relapsed and Refractory Multiple Myeloma Harboring BRAF V600E Mutation

Cepulyte

Žučenka

Pečeliūnas

2020

Case Reports in Hematology

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Multiple myeloma (MM) is an incurable plasma cell neoplasia characterized by relapsed and/or refractory (R/R) disease course, which poses a major therapeutic challenge. New therapies, including BRAF V600E mutation targeting, may become a new treatment option for R/R MM. In combination with mitogen-activated protein kinase inhibitors (MEKi), BRAF inhibitors (BRAFi) could provide better tailored clinical management, although experience in this field is lacking. To this date, there is only one case describing R/R MM treatment with BRAFi vemurafenib and MEKi cobimetinib. This is the first case presenting a R/R MM patient treated with BRAFi dabrafenib and MEKi trametinib.

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“…14 In addition, a significant association between BRAF V600E mutation and hypercalcemia was detected in 205 patients with multiple myeloma. 15 As a possibility, we considered that the ameloblastoma accompanied by hypercalcemia in our patient have been caused due to the high expression of PTHrp based on BRAF V600E mutation. Further accumulation of cases of ameloblastoma accompanied by rare hypercalcemia, includingBRAF V600E mutation, is required.…”

Section: -Discussionmentioning

confidence: 92%

“…7 The BRAF V600E mutation has been used as a diagnostic and predictive biomarker in various types of tumors such as colorectal cancer. [8][9][10][13][14][15] The frequency of BRAF V600E mutation has been reported as 62%-63% in patients with ameloblastoma, 13 whereas this the mutation is rare in other odontogenic tumors. 16 Therefore, the detection of BRAF V600E mutation in the present case genetically supported the preoperative diagnosis of ameloblastoma.…”

Section: -Discussionmentioning

confidence: 99%

Recurrent ameloblastoma with both hypercalcemia and BRAF mutation: a case report

Suzuki

Sasaki

Nakamura

et al. 2020

Preprint

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Prevalence and Clinicopathologic Significance of BRAF V600E Mutation in Chinese Multiple Myeloma Patients

Cited by 9 publications

References 19 publications

KRAS, NRAS, and BRAF mutations in plasma cell myeloma at a single Korean institute

KRAS, NRAS, and BRAF mutations in plasma cell myeloma at a single Korean institute

Combination of Dabrafenib and Trametinib for the Treatment of Relapsed and Refractory Multiple Myeloma Harboring BRAF V600E Mutation

Recurrent ameloblastoma with both hypercalcemia and BRAF mutation: a case report

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