Identiﬁcation of sterile a-motif domain-containing 9-like as a potential biomarker in patients with cutaneous melanoma

Sep 24, 2026

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Skin cutaneous melanoma (SKCM) is a highly aggressive malignancy responsible for about 75% of skin cancer deaths annually. Sterile a-motif domain-containing 9-like (SAMD9L) regulates cell proliferation and suppresses neoplastic features, yet its function in SKCM is unclear. Integrative bioinformatics and expression profiling identified elevated SAMD9L in SKCM, with ROC and survival analyses supporting diagnostic and prognostic value. A real-world cohort of 35 patients linked higher SAMD9L to better outcomes, while functional assays showed that SAMD9L down-regulation promotes SKCM proliferation and migration and correlates with immune infiltration.

LanguageEnglish

CategoryResearch & Report

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Pages22

Reading Time55 min

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ABSTRACT

INTRODUCTION

Submitted 10 March 2023 Accepted 5 June 2023 Published 5 July 2023 Corresponding authors Ying Qian, [18606270627@126.com](18606270627@126.com)[ ](18606270627@126.com)Jin Xu, [jin.xu@helmholtz-muenchen.de](jin.xu@helmholtz-muenchen.de), [JinJyo@outlook.com](JinJyo@outlook.com) Academic editor Tian Li Additional Information and Declarations can be found on page 18 DOI 10.7717/peerj.15634 Copyright 2023 Ye et al. Distributed under Creative Commons CC-BY 4.0 Identiﬁcation of sterile a-motif domaincontaining 9-like as a potential biomarker in patients with cutaneous melanoma Junsen Ye 1, *, Haidan Tang2, *, Chuanrui Xie3, Wei Han4, Guoliang Shen5, Ying Qian5 and Jin Xu4 1 The Department ofScientiﬁc Education, The First People’s Hospital of Jiande, Hangzhou, China 2 Afﬁliated Hospital of Youjiang Medical University for Nationalities, Guangxi, China 3 The Department of Surgery, The People’s Hospital of Rongcheng, Rongcheng, China 4 Institute of Regenerative Biology and Medicine, Helmholtz Centre for Environmental Research–UFZ, Munich, Germany 5 Department of Burn and Plastic Surgery, First Afﬁliated Hospital of Soochow University, Suzhou, China * These authors contributed equally to this work. ABSTRACT Skin cutaneous melanoma (SKCM) is one of the most aggressive malignancies, accounting for approximately 75% of skin cancer-related fatalities annually. Sterile a-motif domain-containing 9-like (SAMD9L) has been found to regulate cell proliferation and suppress the neoplastic phenotype, but its speciﬁc role in SKCM remains unknown. To investigate the cancer-associated immunology of SKCMand the role of SAMD9L in tumor progression, we conducted an integrative bioinformatics analysis that revealed elevated expression levels of SAMD9L in SKCM. ROC curves and survival analyses conﬁrmed the considerable diagnostic and prognostic abilities ofSAMD9L. Moreover, a real-world cohort of 35 SKCM patients from the First Afﬁliated Hospital of Soochow University showed that higher expression levels of SAMD9L were associated with better prognosis. We performed validation experiments, including cell culture, generation of lentiviral-transfected SKCM cell lines, cell proliferation assay, and transwell assay, which demonstrated that down-regulation of SAMD9L signiﬁcantly promoted proliferation and migration capacities of SKCM cells. Additionally, SAMD9L expression was found tobe strongly linked to immune inﬁltration. Our results revealed a positive correlation between SAMD9L and XAF1 expression, suggesting that SAMD9L may serve as a prospective prognostic indicator of SKCM with co-expressed XAF1 gene. In summary, our ﬁndings indicate that SAMD9L may serve as a promising prognostic and therapeutic biomarker and play a critical role in tumor-immune interactions in SKCM. Subjects Bioinformatics, Dermatology, Oncology, Medical Genetics Keywords SAMD9L, Melanoma, Immune, Prognosis INTRODUCTION Skin cutaneous melanoma (SKCM) accounts for only 1% of all skin malignancies globally, but it is responsible for 75% of skin cancer-related deaths each year. With over 230,000 new occurrences and 100,000 new cases of invasive melanoma diagnosed annually, How to cite this article Ye J, Tang H, Xie C, Han W, Shen G, Qian Y, Xu J. 2023. Identiﬁcation of sterile a-motif domain-containing 9-like as a potential biomarker in patients with cutaneous melanoma. PeerJ 11:e15634 DOI 10.7717/peerj.15634 melanoma is one of the most aggressive malignancies (Schadendorf et al., 2018) . The Clark model outlines the progression of SKCM’s pathogenesis, starting from melanocytes and advancing to dysplastic nevi, melanoma in situ, and ultimately invasive melanoma (Clark et al., 1984) . While surgical resection is the primary treatment for early-stage tumors, advanced melanoma poses a challenge for chemotherapy and radiation therapy to be effective (Gadeliya Goodson & Grossman, 2009) . Targeted therapies and immunotherapies have been effective

FAQs

What is the study focus regarding SAMD9L in cutaneous melanoma?

The study investigates the cancer-associated immunology of SKCM and evaluates how SAMD9L contributes to tumor progression, including its prognostic and diagnostic potential.

What evidence supports SAMD9L as a diagnostic and prognostic biomarker?

Elevated SAMD9L expression in SKCM was revealed by integrative bioinformatics, and ROC curves plus survival analyses demonstrated diagnostic and prognostic abilities. A 35-patient cohort further showed higher SAMD9L expression was linked to better prognosis.

How did validation experiments relate SAMD9L to melanoma cell behavior and immune infiltration?

Cell culture and lentiviral-transfected SKCM lines followed by proliferation and transwell assays showed that SAMD9L down-regulation promoted proliferation and migration. SAMD9L expression also strongly correlated with immune infiltration, with a reported positive correlation with XAF1 expression.

Sep 24, 2026

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