Dataset Information

Mutation status among patients with sinonasal mucosal melanoma and its impact on survival.

ABSTRACT:

Background

Sinonasal mucosal melanoma (SNMM) comprises <1% of all melanomas and lacks well-characterised molecular markers. Our aim was to determine the frequencies of common mutations and examine their utility as molecular markers in a large series of primary SNMMs.

Methods

SNMM patients seen at our institution from August 1991 through July 2016 were identified. Genomic DNA was extracted from 66 formalin-fixed paraffin-embedded tumours and screened for mutations by direct sequencing. We investigated the association of mutations with clinicopathological features and survival outcomes.

Results

Overall, 41% (27 out of 66) of the SNMMs harboured mutations. BRAF and KIT mutations were identified in 8% (five patients) and 5% (three patients) of SNMMs, respectively, whereas NRAS mutations were detected in 30% (20 patients) of SNMMs. Mutation rates in these oncogenes were similar between SNMMs located in the paranasal sinuses and those in the nasal cavity (30% and 13%, respectively, P=0.09). In a multivariate analysis, patients with negative margins had significantly better overall survival (hazard ratio 5.43, 95% confidence interval 1.44-21.85, P=0.01) and disease-specific survival (hazard ratio 21.9, 95% confidence interval 3.71-180, P=0.0004). The mutation status of the tumours showed no association with survival outcomes.

Conclusions

In SNNM, mutation status does not affect survival outcomes, but NRAS mutations are relatively frequent and could be targeted in this disease by MEK inhibitors.

SUBMITTER: Amit M

PROVIDER: S-EPMC5518854 | biostudies-literature | 2017 Jun

REPOSITORIES: biostudies-literature

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Publications

Mutation status among patients with sinonasal mucosal melanoma and its impact on survival.

Amit Moran M Tam Samantha S Abdelmeguid Ahmed S AS Roberts Dianna B DB Takahashi Yoko Y Raza Shaan M SM Su Shirley Y SY Kupferman Michael E ME DeMonte Franco F Hanna Ehab Y EY

British journal of cancer 20170511 12

<h4>Background</h4>Sinonasal mucosal melanoma (SNMM) comprises <1% of all melanomas and lacks well-characterised molecular markers. Our aim was to determine the frequencies of common mutations and examine their utility as molecular markers in a large series of primary SNMMs.<h4>Methods</h4>SNMM patients seen at our institution from August 1991 through July 2016 were identified. Genomic DNA was extracted from 66 formalin-fixed paraffin-embedded tumours and screened for mutations by direct sequenc ...[more]

PMID: 28494469

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Project description:Background/Objectives: Sinonasal mucosal melanomas (SNMMs) are rare and aggressive malignancies with poor survival outcomes. Our systematic review and meta-analysis aim to evaluate overall survival (OS) rates in patients with SNMM; Methods: We conducted a systematic search, following PRISMA guidelines across PubMed, Web of Science (WOS), and citation searching for studies reporting survival and prognosis outcomes for SNMMs. Inclusion criteria included studies with 5-year OS rates. Studies were excluded if they included tumor sites other than the paranasal sinuses or nasal cavity, were published in languages other than English and Spanish, or had a sample size of fewer than 15 patients. Two reviewers independently screened studies, extracted data, and assessed study quality using the Joanna Briggs Institute (JBI) critical appraisal checklist. Analyses of survival probabilities were conducted. Meta-analyses were performed using a random-effects model. PROSPERO ID CRD42024565137; Results: A total of 515 articles were identified after removing duplicates, and 99 reports were assessed for eligibility. Of these, 35 studies were included in the meta-analysis, encompassing a total of 2383 SNMM patients, of whom 1192 (50%) were female, with a weighted mean age of 65.4 years (SD = 5.4). Fifteen studies were from Europe (42.9%), six (17.1%) were from America, eleven (31.4%) were from Asia, two (5.7%) were from Australia, and one (2.9%) combined European, United Kingdom, and American populations. The 5-year OS was 34.8 [95% CI = 30.6-39.5], with the highest OS in America at 40.5 [95% CI = 34.1-48.1], followed by Europe at 36.6 [95% CI = 30.6-43.7], Australia at 32.3 [95% CI = 12.5-83.8], and Asia at 28.1 [95% CI = 19.5-40.7]. The age-standardized incidence rate (ASIR) for SNMM ranges was between 0.07 and 0.14 per 100,000 persons/year, with a slightly higher incidence in women than in men; Conclusions: This meta-analysis, one of the largest to date on SNMM, confirms the aggressive nature of this melanoma subtype with poor survival outcomes. Despite geographic differences in survival rates, the overall 5-year survival remains low, highlighting the urgent need for improved treatment strategies and more research to improve patient outcomes.

Dataset Information

Mutation status among patients with sinonasal mucosal melanoma and its impact on survival.

Background

Methods

Results

Conclusions

Publications

Mutation status among patients with sinonasal mucosal melanoma and its impact on survival.

Similar Datasets

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