Molecular targets in melanoma: time for ‘ethnic personalization’

Morita, Shane Y.; Markovic, Svetomir N.

doi:10.1586/era.12.39

Cited by 9 publications

(12 citation statements)

References 57 publications

(66 reference statements)

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“…The unusual subtype distribution and mutation pattern may indicate that melanoma cases in Javanese ethnic indeed present an anomaly among other Asian populations. Genetic variations between the different ethnicities may influence the prevalence of certain mutations [23], which may explain the wide variation of BRAF V600 mutation rates in Asia. The current evidence from Asia mostly studied East Asia populations, with nearly no data from South-East Asia regions.…”

Section: Discussionmentioning

confidence: 99%

Low BRAF V600 mutation prevalence in primary skin nodular melanoma in Indonesia: a real-time PCR detection among Javanese patients

et al. 2019

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BackgroundCutaneous melanoma is a rare, aggressive skin malignancy with a high mortality rate. Although only contributing 7.6% of the cases worldwide, Asia is responsible for 18.6% of deaths from cutaneous melanoma. BRAF V600 mutation presents a potential prognostic predictor in melanoma. Unfortunately, studies on that mutation in melanoma, particularly nodular subtype, in Indonesia are still scarce. This research aimed to investigate the prevalence of BRAF V600 mutation in primary skin nodular melanoma in Yogyakarta and Central Java, Indonesia. Its association with clinicopathological parameters was also analyzed.MethodsForty paraffin-embedded tissue samples from primary skin nodular melanoma cases in 2011–2018 were collected from the two biggest referral hospitals in Yogyakarta and Central Java, Indonesia. The BRAF V600 mutation status was assessed using qualitative real-time PCR and its associations with age, sex, anatomic location, lymph node metastasis, tumor thickness, ulceration, mitotic index, necrosis, lymphovascular invasion, and tumor-infiltrating lymphocytes were analyzed.ResultsBRAF V600 mutations were found in 4 (10%) samples. These mutations were significantly associated with the central (non-extremity) region (p = 0.013) and presence of lymphovascular invasion (p = 0.005). However, it was not associated with any other variables analyzed in this study.ConclusionThe prevalence of BRAF V600 mutation in Indonesian primary skin nodular melanoma cases is low and significantly associated with anatomic location and lymphovascular invasion. It is lower than prevalences in other Asian populations as well as in Caucasian populations and suggests that melanoma cases in Javanese people may have distinct clinicopathological characteristics from other Asian ethnicities.

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Section: Discussionmentioning

confidence: 99%

Low BRAF V600 mutation prevalence in primary skin nodular melanoma in Indonesia: a real-time PCR detection among Javanese patients

et al. 2019

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“…It is possible that fewer Hispanics have BRAF mutations, which could help to explain their lower incidence of melanoma. Since most clinical trials have been conducted in NHWs, there is a paucity of literature on genetic mutations in other populations [ 105 ]. Further studies are necessary to elucidate the role of genotype in the risk for melanoma among Hispanics.…”

Section: Resultsmentioning

confidence: 99%

Current Data on Risk Factor Estimates Does Not Explain the Difference in Rates of Melanoma between Hispanics and Non-Hispanic Whites

Kamath

Miller

Cockburn

2016

Journal of Skin Cancer

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United States Hispanics have seven times lower melanoma incidence rates than non-Hispanic whites (NHW). It is unclear whether this difference can be explained solely by phenotypic risk factors, like darker skin, or whether modifiable risk factors, like sun exposure, also play a role. The purpose of this paper is to summarize what is currently known about melanoma risk factors among Hispanics and NHWs, and whether or not those differences could explain the difference in melanoma incidence. Through literature review, relative risks and prevalence of melanoma risk factors in Hispanics and NHWs were identified and used to calculate the expected rate in Hispanics and rate ratio compared to NHWs. We found that melanoma risk factors either have similar frequency in Hispanics and NHWs (e.g., many large nevi) or are less frequent in Hispanics but do not explain a high proportion of disease variation (e.g., red hair). Considering current knowledge of risk factor prevalence, we found that melanoma incidence rates in the two groups should actually be similar. Sun exposure behavior among Hispanics may contribute to the explanation for the 7-fold difference in melanoma rates. Currently, limited data exist on sun exposure behavior among Hispanics, but possibilities for improving primary prevention by further studying these practices are substantial.

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“…More specifically, somatic mutations in the BRAF , NRAS , KIT , and GNAQ genes are critical to correctly stage and manage patients with metastatic disease who can nowadays benefit from these modern molecular targeted therapies. The mutations affect receptor tyrosine kinases and the MAPK and MTOR pathways display different frequencies in distinct histopathological subtypes of melanoma [ 2 ].…”

mentioning

confidence: 99%

“…Somatic mutations in the GNAQ and GNA11 genes are found in 80% of uveal melanomas [ 9 ]. Nowadays, patients with N-RAS , KIT , and GNAQ mutated tumors can be enrolled in clinical trials of specific inhibitors [ 2 , 8 – 11 ].…”

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confidence: 99%

Molecular Targeted Approaches for AdvancedBRAFV600,N-RAS,c-KIT, andGNAQMelanomas

et al. 2014

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The introduction of a newly developed target therapy for metastatic melanomas poses the challenge to have a good molecular stratification of those patients who may benefit from this therapeutic option. Practically, BRAF mutation status (V600E) is commonly screened although other non-V600E mutations (i.e., K-R-M-D) could be found in some patients who respond to therapy equally to the patients harboring V600E mutations. Furthermore, other mutations, namely, N-RAS, KIT, and GNAQ, should be sequenced according to distinct melanoma specific subtypes and clinical aspects. In our report, a practical flow chart is described along with our experience in this field.

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Molecular targets in melanoma: time for ‘ethnic personalization’

Cited by 9 publications

References 57 publications

Low BRAF V600 mutation prevalence in primary skin nodular melanoma in Indonesia: a real-time PCR detection among Javanese patients

Low BRAF V600 mutation prevalence in primary skin nodular melanoma in Indonesia: a real-time PCR detection among Javanese patients

Current Data on Risk Factor Estimates Does Not Explain the Difference in Rates of Melanoma between Hispanics and Non-Hispanic Whites

Molecular Targeted Approaches for AdvancedBRAFV600,N-RAS,c-KIT, andGNAQMelanomas

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