BRAF, NRAS and C-KIT Advanced Melanoma: Clinico-pathological Features, Targeted-Therapy Strategies and Survival

Ponti, Giovanni; Manfredini, Marco; Greco, Stefano; Pellacani, Giovanni; Depenni, Roberta; Tomasi, Aldo; Maccaferri, Monia; Cascinu, Stefano

doi:10.21873/anticanres.12175

Cited by 29 publications

(23 citation statements)

References 14 publications

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“…Approximately 25% of mucosal melanomas exhibit amplification of the KIT gene while 10% contain activating mutations of the BRAF gene. KIT -mutated melanomas are more commonly located at acral and mucosal sites, while BRAF and NRAS -mutated melanomas are mostly located at sunlight-exposed sites [ 24 ]. Several randomized trials of KIT -mutated melanoma have reported positive results when treated with tyrosine kinase inhibitors such as imatinib [ 25 ], nilotinib [ 26 ], sorafenib [ 27 ], and dasatinib [ 28 ].…”

Section: Discussionmentioning

confidence: 99%

A Rare Case of Primary Anorectal Melanoma and a Review of the Current Landscape of Therapy

Yeung

Gupta

Kamat

2020

Journal of Community Hospital Internal Medicine Perspectives

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Introduction: Anorectal mucosal melanoma (ARMM) is an uncommon and highly aggressive malignancy. Given its rarity, there is insufficient evidence on the optimal medical management which presents as a clinical challenge to its diagnosis and treatment. Treatment of ARMM typically involves a multimodal approach including surgical resection, chemotherapy, targeted therapy and/or immunotherapy. Case Presentation: Here, we present a case of a 78-year-old female who presented with a four-month history of rectal bleeding and bowel incontinence. Ultimately, colonoscopy revealed a mass at the anal verge, and biopsy of the mass showed malignant cells that stained positive for S100, Melan-A and HMB-45, consistent with the diagnosis of malignant melanoma. Molecular testing revealed no BRAF, KIT or NRAS gene mutations. PD-L1 immunohistochemistry showed tumor proportion score of 1%. She underwent abdominoperineal resection with a plan to initiate immunotherapy with an anti-PD-1 checkpoint inhibitor. This case highlights a rare aggressive malignancy and reviews its treatment option, which are mostly extrapolated from its cutaneous counterpart and some derived from a few case reports. Due to its rarity, there is no consensus guideline for the treatment of ARMM.

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Section: Discussionmentioning

confidence: 99%

A Rare Case of Primary Anorectal Melanoma and a Review of the Current Landscape of Therapy

Yeung

Gupta

Kamat

2020

Journal of Community Hospital Internal Medicine Perspectives

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“…The dramatic importance of molecular biology-based strategies used for the detection of driving mutations in melanoma oncogenes resides in defining targetable alterations and making them "druggable", thus enabling meaningful advances in personalized medicine (210)(211)(212).…”

Section: How Genomic Technologies Are Moving Toward Personalized Medicinementioning

confidence: 99%

Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies

Scatena

Murtas

Tomei³

2021

Front. Oncol.

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Cutaneous melanoma is an aggressive tumor responsible for 90% of mortality related to skin cancer. In the recent years, the discovery of driving mutations in melanoma has led to better treatment approaches. The last decade has seen a genomic revolution in the field of cancer. Such genomic revolution has led to the production of an unprecedented mole of data. High-throughput genomic technologies have facilitated the genomic, transcriptomic and epigenomic profiling of several cancers, including melanoma. Nevertheless, there are a number of newer genomic technologies that have not yet been employed in large studies. In this article we describe the current classification of cutaneous melanoma, we review the current knowledge of the main genetic alterations of cutaneous melanoma and their related impact on targeted therapies, and we describe the most recent high-throughput genomic technologies, highlighting their advantages and disadvantages. We hope that the current review will also help scientists to identify the most suitable technology to address melanoma-related relevant questions. The translation of this knowledge and all actual advancements into the clinical practice will be helpful in better defining the different molecular subsets of melanoma patients and provide new tools to address relevant questions on disease management. Genomic technologies might indeed allow to better predict the biological - and, subsequently, clinical - behavior for each subset of melanoma patients as well as to even identify all molecular changes in tumor cell populations during disease evolution toward a real achievement of a personalized medicine.

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“…The V600K mutation was observed in a NM and in a LMM and K 601E mutation in one LMM. Interestingly, BRAF mutations in literature are less frequently found in melanomas occurring at sites of chronic sun damage such as the head and neck and more frequently in melanomas occurring in skin with intermittent acute sun damage (Curtin et al, 2005;Jin et al, 2013;Ponti et al, 2017).…”

Section: Dear Editormentioning

confidence: 99%

“…NRAS p.Q61L was detected in a NM of the scalp, when the other cases were wild type for the investigated gene mutations. NRASmutated melanoma is usually related to the nodular subtypes of melanoma, chronic UV exposure sites, and a worse prognosis (Ponti et al, 2017).…”

Section: Dear Editormentioning

confidence: 99%

Frequency of somatic mutations in head and neck melanoma: A single‐institution experience

Dika

Lambertini

Patrizi

et al. 2020

Pigment Cell Melanoma Res

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BRAF, NRAS and C-KIT Advanced Melanoma: Clinico-pathological Features, Targeted-Therapy Strategies and Survival

Abstract: BRAF, NRAS and C-KIT melanomas constitute distinct clinico-pathological entities. BRAF-mutated melanoma benefit from both anti-BRAF and anti-MEK targeted therapies while triple-negative melanomas could benefit from novel anti-CTLA-4 and anti-PD-L1 immunotherapeutic approaches.

Cited by 29 publications

References 14 publications

A Rare Case of Primary Anorectal Melanoma and a Review of the Current Landscape of Therapy

A Rare Case of Primary Anorectal Melanoma and a Review of the Current Landscape of Therapy

Cutaneous Melanoma Classification: The Importance of High-Throughput Genomic Technologies

Frequency of somatic mutations in head and neck melanoma: A single‐institution experience

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