Evidence map›Paper›PMID 36051260›Full record

ArticleHeliyon2022

Pediatric chordoma associated with tuberous sclerosis complex: A rare case report with a thorough analysis of potential therapeutic molecular targets.

Kirill Anoshkin, Denis Zosen, Kristina Karandasheva, Maxim Untesco, Ilya Volodin, Ekaterina Alekseeva, Anna Parfenenkova, Eugenia Snegova, Aleksandr Kim, Marina Dorofeeva and 2 more

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

Article in Heliyon, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact, top 85% 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

1 citing paper in PubMed, 0 citations in OpenAlex.

  1. Review
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

12 authors at 7 institutions in 2 countries.

Kirill AnoshkinResearch Centre for Medical Genetics, Moskvorechye Str. 1, 115522 Moscow, Russia.
Denis ZosenFaculty of Mathematics and Natural Sciences, University of Oslo, PO Box 1068, Blindern, 0316 Oslo, Norway.
Kristina KarandashevaResearch Centre for Medical Genetics, Moskvorechye Str. 1, 115522 Moscow, Russia.
Maxim UntescoUNIM LLC, Podsosensky Lane 23, 105062 Moscow, Russia.
Ilya VolodinResearch Centre for Medical Genetics, Moskvorechye Str. 1, 115522 Moscow, Russia.
Ekaterina AlekseevaResearch Centre for Medical Genetics, Moskvorechye Str. 1, 115522 Moscow, Russia.
Anna ParfenenkovaSaint Petersburg State University, University emb. 7-9, 199034 Saint Petersburg, Russia.
Eugenia SnegovaSaint Petersburg State Budget Healthcare Facility "Advisory and Diagnostic Center for Children", Oleko Dundicha Str. 36/2, 192289 Saint Petersburg, Russia.
Aleksandr KimAlmazov National Medical Research Centre, Akkuratova Str. 2, 197341 Saint Petersburg, Russia.
Marina DorofeevaVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical University, Taldomskaya Str. 2, 125412 Moscow, Russia.
Sergei KutsevResearch Centre for Medical Genetics, Moskvorechye Str. 1, 115522 Moscow, Russia.
Vladimir StrelnikovResearch Centre for Medical Genetics, Moskvorechye Str. 1, 115522 Moscow, Russia.
Research Centre for Medical Genetics · RUFederal Almazov North-West Medical Research Centre · RUPirogov Russian National Research Medical University · RUSechenov University · RUSt Petersburg University · RUTelemark Hospital · NOUniversity of Oslo · NO

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Chordoma associated with tuberous sclerosis complex (TSC) is an extremely rare tumor that was described only in 13 cases since 1975. Сhordoma itself is a malignant slow-growing bone tumor thought to arise from vestigial or ectopic notochordal tissue. Chordoma associated with TSC differs from chordoma in the general pediatric population in the median age, where the diagnosis of TSC-associated chordoma is 6.2 months, whereas for chordoma in the general pediatric population it is set to 12 years. The majority of TSC-associated chordomas are localized in skull-based and sacrum regions, and rare in the spine. Chordomas are genetically heterogeneous tumors characterized by chromosomal instability (CIN), and alterations involving PI3K-AKT signaling pathway genes and chromatin remodeling genes. Here we present the 14th case of chordoma associated with TSC in a 1-year-old pediatric patient. Alongside biallelic inactivation of the

Indexed as

APOBEC3CBX7ChordomaCMAHTSNGSTSC

Identifiers

PMID36051260
PMCPMC9424951
OpenAlexW4293166586

What OpenQuestion holds

Textmetadata
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.