Is time of the essence? Delayed diagnosis of Ewing's sarcoma

Edwards, Madeline; Halton, Jacqueline; Ramphal, Raveena; Johnston, Donna

doi:10.1136/bcr-2014-208307

Cited by 2 publications

(1 citation statement)

References 12 publications

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“…8 In addition, the absence of symptoms and clinical presentation can result in late referrals to sarcoma specialists which delays diagnosis. [9][10][11] Due to the heterogeneity of these tumors, response to conventional treatments such as surgery, radiation, and chemotherapy (Fig. 2) also varies and cannot be translated between different sarcoma subtypes.…”

Section: Introductionmentioning

confidence: 99%

Molecular mechanisms underpinning sarcomas and implications for current and future therapy

Damerell

Pepper

Prince

2021

Sig Transduct Target Ther

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Sarcomas are complex mesenchymal neoplasms with a poor prognosis. Their clinical management is highly challenging due to their heterogeneity and insensitivity to current treatments. Although there have been advances in understanding specific genomic alterations and genetic mutations driving sarcomagenesis, the underlying molecular mechanisms, which are likely to be unique for each sarcoma subtype, are not fully understood. This is in part due to a lack of consensus on the cells of origin, but there is now mounting evidence that they originate from mesenchymal stromal/stem cells (MSCs). To identify novel treatment strategies for sarcomas, research in recent years has adopted a mechanism-based search for molecular markers for targeted therapy which has included recapitulating sarcomagenesis using in vitro and in vivo MSC models. This review provides a comprehensive up to date overview of the molecular mechanisms that underpin sarcomagenesis, the contribution of MSCs to modelling sarcomagenesis in vivo, as well as novel topics such as the role of epithelial-to-mesenchymal-transition (EMT)/mesenchymal-to-epithelial-transition (MET) plasticity, exosomes, and microRNAs in sarcomagenesis. It also reviews current therapeutic options including ongoing pre-clinical and clinical studies for targeted sarcoma therapy and discusses new therapeutic avenues such as targeting recently identified molecular pathways and key transcription factors.

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Section: Introductionmentioning

confidence: 99%

Molecular mechanisms underpinning sarcomas and implications for current and future therapy

Damerell

Pepper

Prince

2021

Sig Transduct Target Ther

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Navigating chronic pain: how taking a few wrong turns can miss sinister pathology

Turnbull¹,

Dodds²,

Wainwright³

et al. 2017

Arch Dis Child Educ Pract Ed

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Bone sarcomas are rare in childhood, and their presentation can often mimic more benign complaints or chronic musculoskeletal pain. Ewing sarcomas in particular are often diagnosed after a significant delay from the onset of symptoms. At a population level, a long diagnostic delay is not necessarily associated with worse survival , as tumours that display slow growth also tend to be less aggressive. For any specific individual however, a delayed diagnosis can result in a larger tumour that is more difficult to treat. We explore a case of Ewing sarcoma and discuss how the presenting features, approach to imaging and the role of clinician cognitive bias may have led to diagnostic delay.Ewing sarcoma is treated with chemotherapy and surgery and/or radiotherapy based on the initial site of disease, size of tumour and response to initial treatment. With current UK treatments, overall survival is approximately 70% for localised tumours and up to 20% in those with metastatic disease. Bone sarcomas usually present with deep-seated mechanical bone pain akin to toothache. The pain can be intermittent over the course of days or weeks, but pain occurring at night should be considered a red flag. Swelling may also present. On plain X-ray, bone sarcomas can demonstrate areas of bone destruction, new bone formation, periosteal inflammation and soft tissue swelling, but in some cases the changes are very subtle. Persistent unexplained symptoms require MRI to exclude tumours and detect potential benign causes that are amenable to treatment.

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Is time of the essence? Delayed diagnosis of Ewing's sarcoma

Cited by 2 publications

References 12 publications

Molecular mechanisms underpinning sarcomas and implications for current and future therapy

Molecular mechanisms underpinning sarcomas and implications for current and future therapy

Navigating chronic pain: how taking a few wrong turns can miss sinister pathology

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