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. 2018 Oct 4:13:114-122.
doi: 10.1016/j.jbo.2018.09.011. eCollection 2018 Nov.

Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model

Li Fei  1 , Clara Ngoh  2 , Daniel E Porter  1
Affiliations

Chondrosarcoma transformation in hereditary multiple exostoses: A systematic review and clinical and cost-effectiveness of a proposed screening model

Li Fei et al. J Bone Oncol. .

Abstract

Background: The most serious complication of hereditary multiple exostoses(HME) is chondrosarcoma transformation. Numerous authors have suggested that screening might allow early chondrosarcoma detection. However, literature-quoted incidences of malignant transformation are highly variable.

Methods: A systematic review of malignant transformation by sex, exostosin-1 mutation(EXT1), age and site was conducted searching Medline, Embase and CINHAL. Three HME screening strategies were then developed and compared using cost per life-year gained and incremental cost-effectiveness ratio (ICER).

Results: Systematic review: 18 papers with 852 chondrosarcomas were identified. The incidence of chondrosarcoma transformation averaged 4%, 75.2% occurring between ages 20-40 and 56.2% at the pelvis and proximal femur. Screening model: In the general HME population, plain radiographs provided cost per life-year gain of £19,013 compared to £53,392 in MRIs. ICER in MRIs compared to X-rays was £80,218. However, for every generation of HME patients screened over 20 years, X-ray radiation induced 0.65 cancers. Psychological effects of false-positives were marginal. Screening only higher-risk groups (males or EXT1) reduced cost but benefited fewer patients.

Conclusions: Our results suggest that annual MRI screening for all HME patients between age 20-40 may be of value. However, the extent of anatomical imaging is subject to debate; it is possible that focused imaging protocols which scan from cervical spine to proximal femur may improve cost-effectiveness.

Keywords: Chondrosarcoma; Hereditary multiple exostosis; Incremental cost-effectiveness ratio; MRI; Mass screening; X-ray.

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Figures

Fig. 1.
Fig. 1
A. Age distribution of chondrosarcoma transformation secondary to HME. This has been compared to the age distribution of primary chondrosarcomas. B. Anatomic distribution of the 852 chondrosarcomas. This is expressed as absolute numbers of exostoses, with percentage in brackets.
Fig. 2.
Fig. 2
Structure of the HME screening model. Reflecting current best-practice guidelines in the management of bone sarcomas, a positive screen result will require a diagnostic work-up comprising a clinical examination and a CT-guided biopsy .
Appendix B.1:
Appendix B.1
Incidence of chondrosarcoma transformation by study author.
See this image and copyright information in PMC

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