Evidence map›Paper›PMID 33317587›Full record

ArticleDiagnostic pathology2020

Quality assessment of a clinical next-generation sequencing melanoma panel within the Italian Melanoma Intergroup (IMI).

Irene Vanni, Milena Casula, Lorenza Pastorino, Antonella Manca, Bruna Dalmasso, Virginia Andreotti, Marina Pisano, Maria Colombino, Italian Association for Cancer Research (AIRC) Study Group, Ulrich Pfeffer and 7 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Diagnostic pathology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 88% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

17 authors at 3 institutions in 1 country.

Irene VanniGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, L.go R Benzi, 10, 16132, Genoa, Italy.
Milena CasulaUnit of Cancer Genetics, National Research Council (CNR), Sassari, Italy.
Lorenza PastorinoGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, L.go R Benzi, 10, 16132, Genoa, Italy.
Antonella MancaUnit of Cancer Genetics, National Research Council (CNR), Sassari, Italy.
Bruna DalmassoGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, L.go R Benzi, 10, 16132, Genoa, Italy.
Virginia AndreottiGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, L.go R Benzi, 10, 16132, Genoa, Italy.
Marina PisanoUnit of Cancer Genetics, National Research Council (CNR), Sassari, Italy.
Maria ColombinoUnit of Cancer Genetics, National Research Council (CNR), Sassari, Italy.
Italian Association for Cancer Research (AIRC) Study Group
Ulrich PfefferTumor Epigenetics, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Enrica Teresa TandaMedical Oncology, IRCCS Ospedale Policlinico San Martino, Genoa, Italy.
Carla RozzoUnit of Cancer Genetics, National Research Council (CNR), Sassari, Italy.
Panagiotis PaliogiannisDepartment of Medical, Surgical, and Experimental Sciences, University of Sassari, Sassari, Italy.
Antonio CossuUnit of Cancer Genetics, National Research Council (CNR), Sassari, Italy.
Paola GhiorzoGenetics of Rare Cancers, IRCCS Ospedale Policlinico San Martino, L.go R Benzi, 10, 16132, Genoa, Italy. paola.ghiorzo@unige.it.
Giuseppe PalmieriUnit of Cancer Genetics, National Research Council (CNR), Sassari, Italy.
Italian Melanoma Intergroup (IMI)
Ospedale Policlinico San Martino · ITNational Research Council · ITUniversity of Sassari · IT

Funding

Associazione Italiana per la Ricerca sul Cancro 21073Ministero della Salute 5x1000 RC2019Ministero della Salute RF-2016-02362288
6 · The paper itself

Abstract

backgroundIdentification of somatic mutations in key oncogenes in melanoma is important to lead the effective and efficient use of personalized anticancer treatment. Conventional methods focus on few genes per run and, therefore, are unable to screen for multiple genes simultaneously. The use of Next-Generation Sequencing (NGS) technologies enables sequencing of multiple cancer-driving genes in a single assay, with reduced costs and DNA quantity needed and increased mutation detection sensitivity.

methodsWe designed a customized IMI somatic gene panel for targeted sequencing of actionable melanoma mutations; this panel was tested on three different NGS platforms using 11 metastatic melanoma tissue samples in blinded manner between two EMQN quality certificated laboratory.

resultsThe detection limit of our assay was set-up to a Variant Allele Frequency (VAF) of 10% with a coverage of at least 200x. All somatic variants detected by all NGS platforms with a VAF ≥ 10%, were also validated by an independent method. The IMI panel achieved a very good concordance among the three NGS platforms.

conclusionThis study demonstrated that, using the main sequencing platforms currently available in the diagnostic setting, the IMI panel can be adopted among different centers providing comparable results.

Indexed as

Quality Assurance, Health CareCutaneous Malignant MelanomaDNA Mutational AnalysisFemaleHigh-Throughput Nucleotide SequencingHumansItalyMaleMelanomaSequence Analysis, DNASkin NeoplasmsBRAFGene panel testingMelanomaNext generation sequencing (NGS)Quality controlsSomatic mutationsTarget therapy

Identifiers

PMID33317587
PMCPMC7737361
OpenAlexW3111863506

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.