Evidence map›Paper›PMID 24369359›Full record

ArticleJournal of human genetics2014

Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysis.

Terence T Sio, Aaron S Mansfield, Travis E Grotz, Rondell P Graham, Julian R Molina, Florencia G Que, Robert C Miller

Open access · hybridAbstract read
In one paragraph

Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.6field-weighted citation impact, top 11% 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

18 citing papers in PubMed, 31 citations in OpenAlex.

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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

7 authors at 3 institutions in 1 country.

Terence T SioDepartment of Radiation Oncology, Mayo Clinic, Rochester, MN, USA.
Aaron S MansfieldDivision of Medical Oncology, Mayo Clinic, Rochester, MN, USA.
Travis E GrotzDivision of Gastroenterologic and General Surgery, Mayo Clinic, Rochester, MN, USA.
Rondell P GrahamDivision of Anatomic Pathology, Mayo Clinic, Rochester, MN, USA.
Julian R Molina1] Division of Medical Oncology, Mayo Clinic, Rochester, MN, USA [2] Division of Experimental Pathology and Laboratory Medicine, Mayo Clinic, Rochester, MN, USA.
Florencia G QueDivision of Gastroenterologic and General Surgery, Mayo Clinic, Rochester, MN, USA.
Robert C MillerDepartment of Radiation Oncology, Mayo Clinic, Rochester, MN, USA.
Mayo Clinic in Arizona · USMayo Clinic · USWinnMed · US

Funding

Women's Cancer ProgramP30CA015083 · NCI · MAYO CLINIC ROCHESTER · PI Felicity Enders · 1985 to 2026
$151.3M
NCI NIH HHS P30 CA015083
6 · The paper itself

Abstract

Pseudomyxoma peritonei (PMP) is a rare abdominal malignancy. We hypothesized that next-generation exomic sequencing would identify recurrent mutations that may have prognostic or therapeutic implications. Ten patients were selected on the basis of availability of tissue and adequate follow-up. They were treated at our institution between September 2002 and August 2004. Using next-generation exomic sequencing, we tested for mutations in 236 cancer-related genes in formalin-fixed paraffin-embedded slides. MCL1 amplification was additionally tested with immunohistochemical staining. Detectable mutations were found in 8 patients (80%). Seven patients harbored a KRAS mutation, most commonly involving codon 12. Four GNAS mutations (R201H/R201C substitutions) were also detected. MCL1 and JUN were concurrently amplified in three patients. One patient with MCL1 and JUN amplification had concurrent amplification of MYC and NFKBIA. ZNF703 was amplified in one patient. Patients with MCL1 amplification were also found to express MCL1 with immunohistochemistry, but MCL1 expression was also detected in some patients without amplification. To our knowledge, we are the first to report MCL1 and JUN coamplification in PMP. Expression of MCL1 may not be completely dependent on amplification. The prognostic and therapeutic implications of these recurrent mutational events are the subject of ongoing investigation.

Indexed as

Gene AmplificationGene Expression ProfilingAdultAgedAged, 80 and overChromograninsDemographyFemaleGene RearrangementGTP-Binding Protein alpha Subunits, GsHigh-Throughput Nucleotide SequencingHumansImmunohistochemistryMaleMiddle AgedMutationChromograninsGNAS protein, humanGTP-Binding Protein alpha Subunits, GsKRAS protein, humanMCL1 protein, humanMyeloid Cell Leukemia Sequence 1 ProteinProto-Oncogene ProteinsProto-Oncogene Proteins c-junProto-Oncogene Proteins p21(ras)ras Proteins

Identifiers

PMID24369359
PMCPMC3973125
OpenAlexW2087392980

What OpenQuestion holds

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LicenceCC BY-NC-ND
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Registered trials

None linked

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.