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The tumour microenvironment in paediatric rhabdomyosarcomas: a systematic review

The tumour microenvironment in paediatric rhabdomyosarcomas: a systematic review
The tumour microenvironment in paediatric rhabdomyosarcomas: a systematic review

Rhabdomyosarcoma (RMS) is a predominantly paediatric cancer that is classified by the presence or absence of a PAX-FOXO1 fusion gene, which is associated with a worse prognosis. Previous classification was based on histology, Alveolar RMS (ARMS) or Embryonal RMS (ERMS). In other paediatric cancers, fusion gene status has been shown to associate with differences in the tumour microenvironment. However, comprehensive understanding of the TME in RMS and how it may differ between subtypes is lacking. This systematic review aimed to identify differences in the TME between FP-RMS and FN-RMS, to better understand how the fusion gene drives malignancy. The Web of Science, MEDLINE (Ovid) and EMBASE (Ovid) were searched to identify relevant studies investigating the TME in RMS. A total of 17 studies met the inclusion criteria and were included in the review, but only three studies specified fusion status in their sample data. Nine studies investigated the extracellular matrix (ECM) and stroma, and another nine investigated the immune microenvironment. Significant differences in CD163+ macrophages, matrix metalloproteinases (MMPs) and stromal platelet derived growth factor receptors (PDGFRɑ/ß) were observed between ARMS and ERMS. Regarding fusion status, there were differences in the prevalence of T cell dysfunction, NECTIN-3 expression, and genes related to PD-1 signalling and interferon (IFN) response. This review highlights a need for further research of the TME in each fusion subtype. This will improve our understanding of how the fusion gene drives malignancy and ultimately aids in the development of novel treatment strategies.

PAX-FOXO1 fusion gene, Rhabdomyosarcoma, extracellular matrix, immune microenvironment, tumour microenvironment
0143-3334
Richards, Megan
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Putnam, Christina
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Underwood, Timothy J.
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Walters, Zoë S.
e1ccd35d-63a9-4951-a5da-59122193740d
Richards, Megan
f3162bae-776b-4b90-9cd6-1753d82f0d3b
Putnam, Christina
0b22c732-06b2-4f31-89f2-fe3ebe24bc7e
Underwood, Timothy J.
8e81bf60-edd2-4b0e-8324-3068c95ea1c6
Walters, Zoë S.
e1ccd35d-63a9-4951-a5da-59122193740d

Richards, Megan, Putnam, Christina, Underwood, Timothy J. and Walters, Zoë S. (2026) The tumour microenvironment in paediatric rhabdomyosarcomas: a systematic review. Carcinogenesis, 47 (1), [bgag011]. (doi:10.1093/carcin/bgag011).

Record type: Article

Abstract

Rhabdomyosarcoma (RMS) is a predominantly paediatric cancer that is classified by the presence or absence of a PAX-FOXO1 fusion gene, which is associated with a worse prognosis. Previous classification was based on histology, Alveolar RMS (ARMS) or Embryonal RMS (ERMS). In other paediatric cancers, fusion gene status has been shown to associate with differences in the tumour microenvironment. However, comprehensive understanding of the TME in RMS and how it may differ between subtypes is lacking. This systematic review aimed to identify differences in the TME between FP-RMS and FN-RMS, to better understand how the fusion gene drives malignancy. The Web of Science, MEDLINE (Ovid) and EMBASE (Ovid) were searched to identify relevant studies investigating the TME in RMS. A total of 17 studies met the inclusion criteria and were included in the review, but only three studies specified fusion status in their sample data. Nine studies investigated the extracellular matrix (ECM) and stroma, and another nine investigated the immune microenvironment. Significant differences in CD163+ macrophages, matrix metalloproteinases (MMPs) and stromal platelet derived growth factor receptors (PDGFRɑ/ß) were observed between ARMS and ERMS. Regarding fusion status, there were differences in the prevalence of T cell dysfunction, NECTIN-3 expression, and genes related to PD-1 signalling and interferon (IFN) response. This review highlights a need for further research of the TME in each fusion subtype. This will improve our understanding of how the fusion gene drives malignancy and ultimately aids in the development of novel treatment strategies.

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Accepted/In Press date: 6 February 2026
e-pub ahead of print date: 20 February 2026
Published date: 10 March 2026
Keywords: PAX-FOXO1 fusion gene, Rhabdomyosarcoma, extracellular matrix, immune microenvironment, tumour microenvironment

Identifiers

Local EPrints ID: 510361
URI: http://eprints.soton.ac.uk/id/eprint/510361
ISSN: 0143-3334
PURE UUID: ab04ee1c-5cb2-4024-9676-7d7eae99b93a
ORCID for Christina Putnam: ORCID iD orcid.org/0009-0005-8936-9481
ORCID for Timothy J. Underwood: ORCID iD orcid.org/0000-0001-9455-2188
ORCID for Zoë S. Walters: ORCID iD orcid.org/0000-0002-1835-5868

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Date deposited: 27 Mar 2026 17:34
Last modified: 28 Mar 2026 03:20

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Contributors

Author: Megan Richards
Author: Christina Putnam ORCID iD
Author: Zoë S. Walters ORCID iD

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