Evidence map›Paper›PMID 36913073›Full record

ArticleHead and neck pathology2023

First Reported Case of Malignant Ectomesenchymoma with p.Leu122Arg Mutation in MYOD1 Gene: Extensive Intra- and Extracranial Tumor in a 15-Year-Old Female.

E M Pena-Burgos, D Plaza-López De Sabando, C Utrilla, J J Pozo-Kreilinger, A Sastre, P Rubio, A Escudero, M Mendiola-Sabio, A Pérez-Martínez

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In one paragraph

Article in Head and neck pathology, 2023. 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
0.5field-weighted citation impact, top 31% 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, 2 citations in OpenAlex.

  1. Review
4 · The record

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5 · Who and what money

Authors and funding

9 authors at 1 institution in 1 country.

E M Pena-BurgosPathology Department, La Paz University Hospital, Paseo de La Castellana, 261, 28046, Madrid, Spain. evapenaburgos.ep@gmail.com.ORCID http://orcid.org/0000-0001-7113-045X
D Plaza-López De SabandoPediatric Oncology Department, La Paz University Hospital, Madrid, Spain.
C UtrillaRadiology Department, La Paz University Hospital, Madrid, Spain.
J J Pozo-KreilingerPathology Department, La Paz University Hospital, Paseo de La Castellana, 261, 28046, Madrid, Spain.
A SastrePediatric Oncology Department, La Paz University Hospital, Madrid, Spain.
P RubioPediatric Oncology Department, La Paz University Hospital, Madrid, Spain.
A EscuderoPediatric Oncology Department, La Paz University Hospital, Madrid, Spain.
M Mendiola-SabioLa Paz University Hospital, Molecular Pathology and Therapeutic Targets Group, Instituto de Investigación del Hospital Universitario La Paz (IdiPAZ), Madrid, Spain.
A Pérez-MartínezPediatric Oncology Department, La Paz University Hospital, Madrid, Spain.
Hospital Universitario La Paz · ES

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundEctomesenchymomas (EMs) are extremely rare neoplasms composed of malignant mesenchymal components and neuroectodermal derivatives. They are described in a wide variety of locations, with the head and neck region being one of the most frequently involved areas. EMs are usually managed as high-risk rhabdomyosarcomas and have similar outcomes.

methodsWe present the case of a 15-year-old female with an EM that arose in the parapharyngeal space and extended into the intracranial space.

resultsHistologically, the tumor presented an embryonal rhabdomyosarcomatous mesenchymal component and the neuroectodermal component was constituted by isolated ganglion cells. Next-generation sequencing (NGS) revealed a p.Leu122Arg (c.365 T > G) mutation in the MYOD1 gene, a p.Ala34Gly mutation in the CDKN2A gene, and CDK4 gene amplification. The patient was treated with chemotherapy. She died 17 months after the debut of symptoms. CONCLUSION(S): To our knowledge, this is the first reported case in English literature of an EM with this MYOD1 mutation. We suggest combining PI3K/ATK pathway inhibitors in these cases. NGS should be performed in EMs cases to detect mutations with potential treatment options.

Indexed as

RhabdomyosarcomaRhabdomyosarcoma, EmbryonalAdolescentFemaleHigh-Throughput Nucleotide SequencingHumansMutationPhosphatidylinositol 3-KinasesPhosphatidylinositol 3-KinasesMalignant ectomesenchymomaMYOD1p.Leu122Arg mutationRhabdomyosarcoma

Identifiers

PMID36913073
PMCPMC10514254
OpenAlexW4324018101

What OpenQuestion holds

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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.