ArticleBMC cancer2021
Genetic alteration of Chinese patients with rectal mucosal melanoma.
Article in BMC cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 11 citations in OpenAlex.
- Review
- A rare case of rectal malignant melanoma with long-term survival: case report and literature review.World journal of surgical oncology · 2025Review
- Primary anorectal melanoma: report of two cases.Journal of surgical case reports · 2025Article
- Membraneless organelles-based integrative analysis constructs an immune-related prognostic signature and identifies NRG1 as a novel methylation biomarker in colorectal cancer.Frontiers in immunology · 2025Article
- Case Report: Surgery combined with targeted therapy for metastatic anorectal malignant mucosal melanoma.Frontiers in oncology · 2025Article
- Neuregulin 1 (NRG1) and its receptors in the enteric nervous system and other parts of the gastrointestinal wall.Histology and histopathology · 2024Review
- [Clinicopathological features and prognosis of anorectal melanoma: A report of 68 cases].Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences · 2023Article
- Article
- Molecular Features in Lymphatic Metastases Reflect the Metastasis Mechanism of Lymph Nodes With Non-Small-Cell Lung Cancers.Frontiers in bioengineering and biotechnology · 2022Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundRectal mucosal melanoma (RMM) is a rare and highly aggressive disease with a poor prognosis. Due to the rarity of RMM, there are few studies focusing on its genetic mechanism. This retrospective study aimed to analyze the genetic spectrum and prognosis of RMM in China and lay a foundation for targeted therapy.
methods36 patients with primary RMM from Peking University Cancer Hospital were enrolled in this study. The Next-generation sequencing (NGS) data of the tumor samples were fitted into the TruSight™ Oncology 500 (TSO500) Docker pipeline to detect genomic variants. Then, the univariate and multivariate Cox hazard analysis were performed to evaluate the correlations of the variants with the overall survival (OS), along with Kaplan-Meier and log-rank test to determine their significance.
resultsBRAF mutations, NRG1 deletions and mitotic index were significant prognostic factors in the univariate analysis. In multivariable analysis of the OS-related prognostic factors in primary RMM patients, it revealed 2 significant alterations: BRAF mutations [HR 7.732 (95%CI: 1.735-34.456), P = 0.007] and NRG1 deletions [HR 14.976 (95%CI: 2.305-97.300), P = 0.005].
conclusionsThis is the first study to show genetic alterations exclusively to Chinese patients with RMM. We confirmed genetic alterations of RMM differ from cutaneous melanoma (CM). Our study indicates that BRAF and NRG1 were correlated with a poor prognostic of RMM and may be potential therapeutic targets for RMM treatment.
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