A highly recurrent RPS27 5'UTR mutation in melanoma

Dutton‐Regester, Ken; Gartner, Jared J.; Emmanuel, Rafi; Qutob, Nouar; Davies, Michael A.; Gershenwald, Jeffrey E.; Robinson, William A.; Robinson, Steven E.; Rosenberg, Steven A.; Scolyer, Richard A.; Mann, Graham J.; Thompson, John F.; Hayward, Nicholas K.; Samuels, Yardena

doi:10.18632/oncotarget.2048

Cited by 50 publications

(51 citation statements)

References 35 publications

(26 reference statements)

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“…MRPS31 encodes a mitochondrial ribosomal protein not previously associated with cancer; RPS27 is a component of the 40S ribosomal subunit whose overexpression has been reported in melanoma (Santa Cruz et al, 1997). The recurrent mutation in RPS27 was recently shown to expand the 5′ TOP element, a motif known to control mRNA translation regulated through the PI(3)K/AKT and mTOR pathways (Dutton-Regester et al, 2014). …”

Section: Resultsmentioning

confidence: 99%

Genomic Classification of Cutaneous Melanoma

Akbani¹,

Akdemir²,

Aksoy³

et al. 2015

Cell

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SUMMARY We describe the landscape of genomic alterations in cutaneous melanomas through DNA, RNA, and protein-based analysis of 333 primary and/or metastatic melanomas from 331 patients. We establish a framework for genomic classification into one of four subtypes based on the pattern of the most prevalent significantly mutated genes: mutant BRAF, mutant RAS, mutant NF1, and Triple-WT (wild-type). Integrative analysis reveals enrichment of KIT mutations and focal amplifications and complex structural rearrangements as a feature of the Triple-WT subtype. We found no significant outcome correlation with genomic classification, but samples assigned a transcriptomic subclass enriched for immune gene expression associated with lymphocyte infiltrate on pathology review and high LCK protein expression, a T cell marker, were associated with improved patient survival. This clinicopathological and multidimensional analysis suggests that the prognosis of melanoma patients with regional metastases is influenced by tumor stroma immunobiology, offering insights to further personalize therapeutic decision-making.

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Section: Resultsmentioning

confidence: 99%

Genomic Classification of Cutaneous Melanoma

Akbani¹,

Akdemir²,

Aksoy³

et al. 2015

Cell

Self Cite

2,583

2,078

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“…This gene is a targeted by somatic missense mutations that mainly cluster in a 7 amino-acid region of exon 4 in 10-20% of chronic lymphocytic leukemia (CLL) patients (10,13). Additionally, RPS27 contains an identical mutation in its 5’UTR in 10% of melanoma patients (103). The impact of this non-coding variant on RPS27 expression remains to be determined.…”

Section: Defects In Ribosome Biogenesis Ribosomal Proteins and Ribosmentioning

confidence: 99%

How Ribosomes Translate Cancer

et al. 2017

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A wealth of novel findings, including congenital ribosomal mutations in ribosomopathies and somatic ribosomal mutations in various cancers, have significantly increased our understanding of the relevance of ribosomes in oncogenesis. Here we explore the growing list of mechanisms by which the ribosome is involved in carcinogenesis – from the hijacking of ribosomes by oncogenic factors and dysregulated translational control, to the effects of mutations in ribosomal components on cellular metabolism. Of clinical importance, the recent success of RNA polymerase inhibitors highlights the dependence on “onco-ribosomes” as an Achilles’ heel of cancer cells and a promising target for further therapeutic intervention.

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“…Recurrent mutations in regulatory regions of several genes that aberrantly activate expression of these genes have also recently been described [38–40]. Of these, recurrent mutations in the promoter of TERT , which create novel ETS family transcription factor binding sites, have been documented in up to 70% of melanoma patient samples.…”

Section: Tissue-based Molecular Genetic Markersmentioning

confidence: 99%

Revisiting determinants of prognosis in cutaneous melanoma

Weiss

Hanniford

Hernando

et al. 2015

Cancer

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The American Joint Committee on Cancer staging system for cutaneous melanoma is based on primary tumor thickness and the presence of ulceration, mitoses, lymph node spread, and distant metastases as determinants of prognosis. Although this cutaneous melanoma staging system has evolved over time to more accurately reflect patient prognosis, improvements are still needed, because current understanding of the particular factors (genetic mutation, expression alteration, host response, etc) that are critical for predicting patient outcomes is incomplete. Given the clinical and biologic heterogeneity of primary melanomas, new prognostic tools are needed to more precisely identify patients who are most likely to develop advanced disease. Such tools would affect clinical surveillance strategies and aid in patient selection for adjuvant therapy. The authors reviewed the literature on prognostic molecular and immunologic markers in primary cutaneous melanoma, their associations with clinicopathologic and survival outcomes, and their potential for incorporation into current staging models. Overall, the studies considered in this review did not define prognostic markers that could be readily incorporated into the current staging system. Therefore, efforts should be continued in these and other directions to maximize the likelihood of identifying clinically useful prognostic biomarkers for cutaneous melanoma. Cancer 2015;121:4108–4123. © 2015 American Cancer Society.

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A highly recurrent RPS27 5'UTR mutation in melanoma

Cited by 50 publications

References 35 publications

Genomic Classification of Cutaneous Melanoma

Genomic Classification of Cutaneous Melanoma

How Ribosomes Translate Cancer

Revisiting determinants of prognosis in cutaneous melanoma

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