Characterizations of Gene Alterations in Melanoma Patients from Chinese Population

Luo, Yi; Zhang, Zhenzhen; Liu, Jianfan; Li, Linqing; Xu, Xuezheng; Yao, Xinyu; Dai, Zixun; Wang, Xin; Yang, Shuo; Wu, Hongwei; Bu, Jie; Wu, Yuan; Xiang, Tianmin; Li, Xianan

doi:10.1155/2020/6096814

Cited by 12 publications

(12 citation statements)

References 38 publications

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“…We observe different frequencies of BRAF and NRAS mutations in cases from North America and Europe than from Asia. Similar differences in distribution of genetic variants between Western countries and Asia have been also reported in cutaneous melanomas [28]. Patients from Europe have significantly better OS (p = 0.01) in comparison to those from North America and Asia in our study.…”

Section: Discussionsupporting

confidence: 88%

Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas

Wróblewska

Dias‐Santagata

Ustaszewski

et al. 2021

Cells

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Background: The prognostic value of commonly recurrent mutations remains unclear in mucosal melanomas. Methods: Clinicopathologic parameters of 214 cases of mucosal melanomas diagnosed in 1989–2020 in several clinical institutions were analyzed. NRAS, KIT, BRAF, IGF2R and SF3B1 mutational analyses by Sanger sequencing and next generation sequencing-based assay were performed in a subset of cases. Results: Of the triple (BRAF, NRAS, NF1)-negative cases, APC, KIT and KRAS are detected mainly in sinonasal, vulvovaginal and anorectal melanomas, respectively. NRAS, KIT, BRAF, IGF2R and SF3B1 mutations are detected in 19% (37/198), 22% (44/197), 12% (25/201), 16% (22/138) and 15% (20/133) of cases, respectively. In univariate analyses, advanced stage (p = 0.016), 65 years or older (p = 0.048) and presence of ulceration (p = 0.027) are significantly correlated with worse overall survival (OS), respectively. NRAS mutation significantly correlates with worse OS (p = 0.028) and worse melanoma-specific survival (MSS) (p = 0.03) for all cases of mucosal melanomas. In multivariate analyses, NRAS mutation remains as an independent predictor of worse OS (p = 0.036) and worse MSS (p = 0.024). Conclusion: NRAS mutation is a predictor of worse survival, independent of stage in mucosal melanomas. The significance of frequently mutated IGF2R in mucosal melanomas remains unclear.

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Section: Discussionsupporting

confidence: 88%

Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas

Wróblewska

Dias‐Santagata

Ustaszewski

et al. 2021

Cells

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“…There is a big difference between melanoma in China and Caucasians in Europe and America. The differences in genetic etiological mechanisms, pathological morphology, biological behavior, treatment methods and prognosis are quite different (20,21). Therefore, in order to investigate the relationship between NLR and the response to anti-PD-1 antibody in Chinese melanoma patients, and to investigate the prognostic value of NLR for melanoma patients treated with chemotherapy, we conducted this retrospective study.…”

Section: Introductionmentioning

confidence: 99%

Elevated Neutrophil-to-Lymphocyte Ratio Is Associated With Poor Outcomes for Melanoma Patients Treated With PD-1 Inhibitor or Chemotherapy in a Chinese Population

Qi¹,

Liao²,

Mei³

et al. 2020

Front. Oncol.

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Background: Previous studies have suggested that an elevated pre-treatment neutrophil-to-lymphocyte ratio (NLR) is associated with worse outcomes in patients with a variety of cancers. The purpose of this retrospective analysis is to investigate the prognostic value of the NLR in a Chinese melanoma population. Methods: Melanoma patients were divided into two groups based on pre-treatment NLR values (≥3 vs. <3). Cox proportional hazard regression analysis and the Kaplan-Meier method were employed to study the prognostic role of the NLR for overall survival (OS) and progression-free survival (PFS). Results: A total of 159 melanoma patients were included in this study, including 40 patients treated with PD-1 inhibitor and 119 patients treated with chemotherapy. In the PD-1 inhibitor group, the median OS was 18.0 months in the low NLR subgroup and 5.6 months in the high NLR subgroup; the median PFS was 7.0 and 2.2 months, respectively. In chemotherapy group, the median OS was 23.0 months in the low NLR group and 8.0 months in the high NLR group, and the median PFS was 9.0 and 4.0 months, respectively. Multivariate analysis showed that the NLR was significantly associated with OS and PFS in melanoma patients treated with either PD-1 inhibitor immunotherapy or chemotherapy. Conclusion: In the Chinese population, an elevated NLR was closely related to worse survival in patients with melanoma treated with either PD-1 inhibitor monotherapy or chemotherapy.

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“…In Caucasians, acral melanomas have been found to have a higher number of CNVs than cutaneous melanomas (42,45). In contrast, in a Chinese cohort, a higher number of CNV amplifications were detected in non-CSD cutaneous melanomas than in acral melanomas (58). However, future molecular studies in patients with different ancestries are required to elucidate the relationship between ancestry and the mutational landscape of acral melanoma.…”

Section: Mutational Landscapementioning

confidence: 94%

Immunotherapy in Acral and Mucosal Melanoma: Current Status and Future Directions

Mao

Zhang

et al. 2021

Front. Immunol.

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Acral and mucosal melanomas are extremely rare in Caucasians; however, they are the predominant melanoma subtypes in Asians and other non-Caucasian populations. Acral and mucosal melanomas share many clinicopathological features, including aggressive phenotypes, similar genetic landscapes, and grim prognoses. In spite of advances in melanoma management, patients with acral and mucosal melanomas show limited benefit from current therapies. The rarity of these subtypes of melanoma is a significant factor contributing to the poor understanding of these pathological subtypes and the lack of effective interventions. Furthermore, the mechanisms contributing to disparities between different types of melanoma remain largely unclear. Herein, we comprehensively review current knowledge on the clinicopathological characteristics and mutational landscapes of acral and mucosal melanomas, as well as providing an overview of current therapies for patients with these aggressive melanoma subtypes, focusing on available immunotherapeutic interventions. We also discuss pathological differences between different melanoma subtypes and summarize current knowledge on melanoma disparities between Asians and Caucasians. Finally, we discuss emerging immunotherapeutic strategies for the treatment of acral and mucosal melanomas, focusing on combination therapies with immune checkpoint inhibitors. Unraveling the unique features of acral and mucosal melanomas is key for their early diagnosis and for the development of effective therapies.

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Characterizations of Gene Alterations in Melanoma Patients from Chinese Population

Cited by 12 publications

References 38 publications

Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas

Prognostic Roles of BRAF, KIT, NRAS, IGF2R and SF3B1 Mutations in Mucosal Melanomas

Elevated Neutrophil-to-Lymphocyte Ratio Is Associated With Poor Outcomes for Melanoma Patients Treated With PD-1 Inhibitor or Chemotherapy in a Chinese Population

Immunotherapy in Acral and Mucosal Melanoma: Current Status and Future Directions

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