Next-Generation Sequencing Reveals Pathway Activations and New Routes to Targeted Therapies in Cutaneous Metastatic Melanoma

Carlson, John A.; Xavier, Jose Candido Caldeira; Tarasen, Ashley J; Sheehan, Christine E.; Otto, Geoff; Miller, Vincent A.; Stephens, Philip J.; Elvin, Julia A.; Vergilio, Jo‐Anne; Suh, James; Ross, Jeffrey S.

doi:10.1097/dad.0000000000000729

Cited by 10 publications

(8 citation statements)

References 133 publications

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“…It remains unclear whether such regional anomalies are “bystander” alterations subsequent to single gene loci or non‐random events where the oncogenes and TSGs in the affected regions play roles at different stages of oncogenesis (Kwong & Chin, ). Irrespective of the cause, if such regional and multi‐gene involvement is maintained within metastatic CoMs, then, ideally, concomitant systemic therapies could be designed for CoM as suggested in CM (Carlson et al, ). There is no current clear guideline for the use of targeted therapeutics in metastatic CoM.…”

Section: Discussionmentioning

confidence: 99%

Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome

Kenawy

Kalirai

Sacco

et al. 2019

Pigment Cell Melanoma Res

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Relatively little is known about the genetic aberrations of conjunctival melanomas (CoM) and their correlation with clinical and histomorphological features as well as prognosis. The aim of this large collaborative multicenter study was to determine potential key biomarkers for metastatic risk and any druggable targets for high metastatic risk CoM. Using Affymetrix single nucleotide polymorphism genotyping arrays on 59 CoM, we detected frequent amplifications on chromosome (chr) 6p and deletions on 7q, and characterized mutation‐specific copy number alterations. Deletions on chr 10q11.21‐26.2, a region harboring the tumor suppressor genes, PDCD4, SUFU, NEURL1, PTEN, RASSF4, DMBT1, and C10orf90 and C10orf99, significantly correlated with metastasis (Fisher's exact, p ≤ 0.04), lymphatic invasion (Fisher's exact, p ≤ 0.02), increasing tumor thickness (Mann–Whitney, p ≤ 0.02), and BRAF mutation (Fisher's exact, p ≤ 0.05). This enhanced insight into CoM biology is a step toward identifying patients at risk of metastasis and potential therapeutic targets for systemic disease.

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Section: Discussionmentioning

confidence: 99%

Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome

Kenawy

Kalirai

Sacco

et al. 2019

Pigment Cell Melanoma Res

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“…In addition, a panel of melanocytic immunohistochemical studies including S‐100 protein, SOX‐9, MITF, Mart‐1, tyrosinase and/or HMB45 are important ancillary tests. Lastly, the absence of EWSR1 (seen in mixed tumors) or HEY1‐NCOA2 rearrangements (seen in mesenchymal chondrosarcomas) and the presence of BRAF or NRAS mutations can help support the diagnosis of melanoma …”

Section: Discussionmentioning

confidence: 99%

Primary chondro‐osseous melanoma (chondrosarcomatous and osteosarcomatous melanoma)

2017

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Melanoma can rarely show malignant chondro-osseous differentiation and can cause diagnostic confusion. We report 3 cases of primary melanoma with extensive bone and cartilage matrix. The first case arose in the nasal mucosa of a 72-year-old woman, the second case in the left index finger of a 26-year-old woman and the third case in the left cheek of a 68-year-old woman. In tumors where osseous and chondroid differentiation appear in mucosa and skin, primary melanoma with chondro-osteosarcomatous differentiation should be considered in the differential. Careful histological examination together with clinical correlation and ancillary immunohistochemical studies can ensure the correct diagnosis is made.

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“…Test results can be helpful for the initial diagnosis, tumor classification, determining the origin of the cancer, and prognosis. 76 Table 2 77 – 130 provides a partial list of cancers where NGS information has provided value for managing patients. Thyroid nodules are a specific example where fine needle aspiration and cytologic examination may not yield a definitive diagnosis, while NGS has been shown to have high specificity and sensitivity for cancer detection.…”

Section: Next-generation Sequencing Applications In Oncologymentioning

confidence: 99%

A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?

et al. 2018

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Next-generation sequencing refers to a high-throughput technology that determines the nucleic acid sequences and identifies variants in a sample. The technology has been introduced into clinical laboratory testing and produces test results for precision medicine. Since next-generation sequencing is relatively new, graduate students, medical students, pathology residents, and other physicians may benefit from a primer to provide a foundation about basic next-generation sequencing methods and applications, as well as specific examples where it has had diagnostic and prognostic utility. Next-generation sequencing technology grew out of advances in multiple fields to produce a sophisticated laboratory test with tremendous potential. Next-generation sequencing may be used in the clinical setting to look for specific genetic alterations in patients with cancer, diagnose inherited conditions such as cystic fibrosis, and detect and profile microbial organisms. This primer will review DNA sequencing technology, the commercialization of next-generation sequencing, and clinical uses of next-generation sequencing. Specific applications where next-generation sequencing has demonstrated utility in oncology are provided.

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Next-Generation Sequencing Reveals Pathway Activations and New Routes to Targeted Therapies in Cutaneous Metastatic Melanoma

Cited by 10 publications

References 133 publications

Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome

Conjunctival melanoma copy number alterations and correlation with mutation status, tumor features, and clinical outcome

Primary chondro‐osseous melanoma (chondrosarcomatous and osteosarcomatous melanoma)

A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?

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