Assessment of BRAF and KIT mutations in Japanese melanoma patients

Ashida, Atsuko; Uhara, Hisashi; Kiniwa, Yukiko; Oguchi, Motoi; Murata, Hiroshi; Goto, Yasufumi; Uchiyama, Aya; Ogawa, Emiko; Hayashi, Kôichi; Koga, Hiroshi; Okuyama, Ryuhei

doi:10.1016/j.jdermsci.2012.03.005

Cited by 56 publications

(36 citation statements)

References 10 publications

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“…Curtin et al [16], who examined 102 primary melanomas excised from various anatomical sites, found mutations and copy number increases of c-kit in 39% of mucosal melanomas, 36% of acral melanomas, and 28% of CSD, but not in any (0%) non-CSD melanomas. Other studies also identified oncogenic c-kit mutations in several melanoma cohorts [17,[19][20][21]22 && , [23][24][25]. In our own cohort of 502 Chinese patients, somatic mutations within the c-kit gene were 10.8% (54 of 502).…”

Section: Key Pointssupporting

confidence: 62%

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C-kit-mutated melanomas

Guo

2013

Current Opinion in Oncology

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Section: Key Pointssupporting

confidence: 62%

“…Genetic mutations and gene amplifications of c-kit have been described and examined in melanomas [15][16][17][18][19][20][21]22 && , [23][24][25]. Genetic mutations and gene amplifications of c-kit have been described and examined in melanomas [15][16][17][18][19][20][21]22 && , [23][24][25].…”

Section: Introductionmentioning

confidence: 99%

C-kit-mutated melanomas

Guo

2013

Current Opinion in Oncology

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“…Other studies have also revealed that the frequency of BRAF mutation in ALM was lower, than in other types of melanoma3,4. Most of these studies are conducted in the Caucasian population, but there have been only few reports about BRAF mutation in Asian patients10,11,12,13,14. In the Asian population, the most common type of melanoma is ALM; and to our knowledge, there is only one report about the status and the clinical significance of BRAF mutation in melanoma of the Korean population13.…”

Section: Discussionmentioning

confidence: 99%

“…Recent studies have revealed that the frequency of BRAF mutation in ALM was lower than in other types of melanoma3,4, and the effects of mutation on clinicopathologic features and clinical outcome remain uncertain, with previous studies reporting conflicting results2,5,6,7,8,9. However these observations are mostly conducted in Caucasian populations, and there have been few studies about the status and clinical significance of BRAF mutation in Asian patients10,11,12,13,14.…”

Section: Introductionmentioning

confidence: 99%

Prognostic and Clinicopathologic Associations ofBRAFMutation in Primary Acral Lentiginous Melanoma in Korean Patients: A Preliminary Study

et al. 2014

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BackgroundIn the majority of melanomas, the RAS/RAF/MEK/ERK signaling pathway is constitutively activated, due to oncogenic mutations in the BRAF and NRAS genes. The BRAF mutation has been mainly described in Caucasian melanomas. However, there is a lack of study evaluating the status, and the clinical significance, of BRAF mutation in the Asian population.ObjectiveThis study was aimed to determine the frequency of BRAF mutation, and to evaluate the correlation of BRAF status with clinicopathologic features and outcomes, in Korean primary acral lentiginous melanoma (ALM) patients.MethodsALM samples (n=36) were analyzed for the BRAF V600E mutation, by dual-priming oligonucleotide (DPO) based real-time polymerase chain reaction. The clinicopathologic features and prognosis of the patients were analyzed with BRAF mutation status.ResultsThe incidence of BRAF V600E mutation was 19.4% (7/36). The BRAF V600E mutations were not associated with clinicopathologic features, except for the age factor. All of the BRAF-mutant patients survived without recurrence or metastasis, and have a better clinical outcome than BRAF wild-type patients.ConclusionIn Korean primary ALM, a low frequency of BRAF mutation was shown; and BRAF mutation presented with a favorable prognosis. These results indicate that other distinctive genetic mechanisms may have more important roles in the development and progression of disease. Further multicenter study with large sample size is firmly needed, to confirm the results of our preliminary study.

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“…Studies involving China, Korea and Japan revealed that there may be some differences in incidence of melanoma compared with the findings in Caucasians, including frequency and an age association with BRAF mutation 7, 8, 9, 10. In a recent study conducted in Japan, the detection rates of BRAF , NRAS and KIT mutations were 30.4%, 12.3% and 12.9%, respectively 11…”

Section: Introductionmentioning

confidence: 96%

Phase 1/2 study assessing the safety and efficacy of dabrafenib and trametinib combination therapy in Japanese patients with BRAF V600 mutation‐positive advanced cutaneous melanoma

Yamazaki¹,

Tsutsumida²,

Takahashi³

et al. 2018

The Journal of Dermatology

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The combination of dabrafenib and trametinib demonstrated encouraging antitumor activity and tolerability, at initial analysis, in Japanese patients with BRAF V600 mutant advanced melanoma warranting further investigation. This study evaluated the safety and tolerability, pharmacokinetics (PK) and preliminary efficacy of dabrafenib 150 mg b.i.d. plus trametinib 2 mg q.d. in Japanese patients with BRAF V600E/K mutant solid tumors (phase 1) and melanoma (phase 2). Phase 1 was primarily intended to assess safety and tolerability as assessed by adverse events (AE), and the primary end‐point in phase 2 was to assess confirmed overall response rate (ORR). The secondary end‐points in phase 1 included PK, confirmed/unconfirmed ORR and duration of response (DOR). The secondary end‐points in phase 2 were PK, unconfirmed ORR, DOR, safety and tolerability. A total of 12 cutaneous melanoma patients were enrolled in the study (six in phase 1 and six in phase 2) and received the combination therapy of dabrafenib and trametinib. Common AE (≥50.0%) included pyrexia (75%), increased aspartate aminotransferase (67%), peripheral edema (50%) and nasopharyngitis (50%). The investigator‐assessed ORR was reported in five patients (83%) in phase 1 and was also reported in five patients (83%; 95% confidence interval, 35.9–99.6; P < 0.0001) in phase 2. Plasma concentrations of both dabrafenib and trametinib seemed to a reach steady state by week 3. Overall, efficacy and PK properties for the dabrafenib plus trametinib combination in Japanese patients were comparable with those seen in global studies.

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Assessment of BRAF and KIT mutations in Japanese melanoma patients

Cited by 56 publications

References 10 publications

C-kit-mutated melanomas

C-kit-mutated melanomas

Prognostic and Clinicopathologic Associations ofBRAFMutation in Primary Acral Lentiginous Melanoma in Korean Patients: A Preliminary Study

Phase 1/2 study assessing the safety and efficacy of dabrafenib and trametinib combination therapy in Japanese patients with BRAF V600 mutation‐positive advanced cutaneous melanoma

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