To the Editor,
We read with interest your recently published case report entitled “Periosteal mesenchymal chondrosarcoma of the tibia with multifocal bone metastases: a case report” [1]. We contend that testing for HEY1-NCOA2 fusion transcript should have been attempted [2]. Our own experience with a similar challenge was made easier by testing for HEY1-NCOA2. Our 19-year-old male patient had a nuclear bone scan that revealed increased activity in the left tibia, but other imaging modalities revealed no metastatic disease. A CT-guided biopsy suggested a low-grade osteosarcoma with cartilaginous differentiation; however, complete resection showed a high-grade process in large segments. HEY1-NCOA2 fusion transcript by RT-PCR confirmed mesenchymal chondrosarcoma [2].
To this day, the diagnosis, management, and prognosis of mesenchymal chondrosarcoma remain challenging. Utilizing molecular testing is warranted wherever possible. Conventional clinical, radiological, and pathological findings are only the start of diagnosis. Better understanding of molecular testing in cancer is not only a helpful diagnostic tool, but the key to developing targeted therapies.
References
Kumar R, Duran C, Amini B, Araujo DM, Wang WL. Periosteal mesenchymal chondrosarcoma of the tibia with multifocal bone metastases: a case report. Skeletal Radiol. 2017;46(7):995–1000.
Wang L, Motoi T, Khanin R, et al. Identification of a novel recurrent HEY1-NCOA2 fusion in mesenchymal chondrosarcoma based on a genome-wide screen of exon-level expression delta. Genes Chromosomes Cancer. 2012;51(2):127–39.
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Khalil, S., Al-Rahawan, M.G. & Al-Rahawan, M.M. Periosteal mesenchymal chondrosarcoma of the tibia. Skeletal Radiol 47, 605 (2018). https://doi.org/10.1007/s00256-018-2885-9
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DOI: https://doi.org/10.1007/s00256-018-2885-9