Evidence map›Paper›PMID 36374445›Full record

ReviewHead and neck pathology2023

Rhabdomyosarcoma with TFCP2 Rearrangement or Typical Co-expression of AE1/AE3 and ALK: Report of Three New Cases in the Head and Neck Region and Literature Review.

Karen Patricia Domínguez Gallagher, Ana Luiza Oliveira Corrêa Roza, Elena María José Roman Tager, Bruno Augusto Linhares Almeida Mariz, Ciro Dantas Soares, André Caroli Rocha, Aline Corrêa Abrahão, Mário José Romañach, Roman Carlos, Keith D Hunter and 3 more

Open access · greenAbstract readReviewCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Review 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 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
2.9field-weighted citation impact, top 8% 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

8 citing papers in PubMed, 20 citations in OpenAlex.

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  7. Genomic alterations and diagnosis of renal cancer.Virchows Archiv : an international journal of pathology · 2024
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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

13 authors at 4 institutions in 3 countries.

Karen Patricia Domínguez GallagherOral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil. karendg89@gmail.com.ORCID http://orcid.org/0000-0002-0316-6343
Ana Luiza Oliveira Corrêa RozaOral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Elena María José Roman TagerOral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Bruno Augusto Linhares Almeida MarizOral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Ciro Dantas SoaresLaboratório de Citopatologia, Division of Surgical Pathology, Private Pathology Service, Natal, Rio Grande do Norte, Brazil.
André Caroli RochaOral and Maxillofacial Surgery and Traumatology Service, Clinical Hospital, Medical School, University of São Paulo (FMUSP), São Paulo, São Paulo, Brazil.
Aline Corrêa AbrahãoDepartment of Oral Diagnosis and Pathology, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Mário José RomañachDepartment of Oral Diagnosis and Pathology, School of Dentistry, Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, Brazil.
Roman CarlosPathology Section, Centro Clínico de Cabeza y Cuello/Hospital Herrera Llerandi, Guatemala City, Guatemala.
Keith D HunterLiverpool Head and Neck Centre, Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, UK.
Marcio Ajudarte LopesOral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Pablo Agustin VargasOral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Alan Roger Santos-SilvaOral Diagnosis Department, Semiology and Oral Pathology Areas, Piracicaba Dental School, University of Campinas (UNICAMP), Av. Limeira, 901, Areão, Piracicaba, São Paulo, 13414-903, Brazil.
Universidade Estadual de Campinas (UNICAMP) · BRUniversidade Federal do Rio de Janeiro · BRUniversidade de São Paulo · BRUniversity of Liverpool · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundRhabdomyosarcoma (RMS) harboring EWSR1/FUS-TFCP2 fusions has been recently described as a distinct form of RMS with an aggressive course and predilection for the craniofacial bones, especially the jaws.

methodsWe report three new cases of this rare entity, two from Brazil and one from Guatemala, with detailed clinicopathologic, immunohistochemical, and molecular descriptions. Additionally, we explored the English-language literature searching RMS with TFCP2 rearrangement or typical immunophenotype with co-expression of AE1/AE3 and ALK in the head and neck region.

resultsCase 1 is a 58-year-old male with a 3-month history of painful swelling in the anterior maxilla. Case 2 is a 22-year-old male presenting with right facial swelling and proptosis. Case 3 is a 43-year-old female with a rapidly growing tumor located in the zygomatic region. Imaging examinations revealed highly destructive intraosseous masses in the first two cases, and a soft tissue tumor with bone invasion in case 3. Microscopically, all cases showed a hybrid spindle and epithelioid phenotype of tumor cells which expressed desmin, myogenin and/or Myo-D1, AE1/AE3, and ALK. FISH confirmed molecular alterations related to TFCP2 rearrangement in Cases 1-2. In case 3, there was no available material for molecular analysis. The patients were subsequently referred to oncologic treatment. Additionally, we summarized the clinicopathologic, immunohistochemical, and molecular features of 27 cases of this rare RMS variant in the head and neck region reported in the English-language literature.

conclusionRMS with TFCP2 rearrangement is a rare and aggressive tumor with a particular predilection for craniofacial bones, especially the jaws. Knowing its clinicopathologic and immunohistochemical profile can avoid misdiagnosis.

Indexed as

RhabdomyosarcomaSoft Tissue NeoplasmsBiomarkers, TumorBrazilDNA-Binding ProteinsFemaleHumansMaleReceptor Protein-Tyrosine KinasesTranscription FactorsBiomarkers, TumorDNA-Binding ProteinsReceptor Protein-Tyrosine KinasesTFCP2 protein, humanTranscription FactorsAE1/AE3ALKHead and neckJawsRhabdomyosarcomaTFCP2

Identifiers

PMID36374445
PMCPMC10293535
OpenAlexW4308954774

What OpenQuestion holds

Textmetadata
Read underepoch 390

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.