PubMed · 14783698
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H L JAFFE. 1950. Aneurysmal bone cyst.. https://pubmed.ncbi.nlm.nih.gov/14783698/
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Aneurysmal bone cysts (ABC) are locally aggressive bone tumors that often feature chromosome 17p13 rearrangements. One of the ABC 17p13 rearrangements--t(16;17)(q22;p13)--was recently shown to create a CDH11-USP6 fusion in which the USP6/TRE17 oncogene is overexpressed through juxtaposition with the CDH11 promoter. Herein, we characterize four different ABC translocations involving 17p13, and we show that each is associated with a novel USP6 fusion oncogene. Specifically, we demonstrate that t(1;17), t(3;17), t(9;17), and t(17;17) result in USP6 fusions with TRAP150 (thyroid receptor-associated protein 150), ZNF9 (ZiNc Finger 9), Osteomodulin, and COL1A1 (Collagen 1A1), respectively. The oncogenic mechanism in these fusion genes is akin to CDH11-USP6, with the USP6 coding sequences juxtaposed to the promoter regions in each of the four novel translocation partners. The novel fusion partners appear well suited to drive USP6 transcription in the bone/mesenchymal context: osteomodulin is expressed strongly in osteoblastic lineages, and the COL1A1 promoter has an oncogenic role in the mesenchymal cancer dermatofibrosarcoma protuberans. In summary, these studies show that USP6 oncogenic activation results from heterogeneous genomic mechanisms involving USP6 transcriptional upregulation by juxtaposition with ectopic promoters.
STUDY DESIGN: Case report. OBJECTIVES: To report: 1) one of the youngest cases of aneurysmal bone cysts presenting with cord compression at the cervicothoracic junction with 7-year follow-up; and 2) the technique we used to stabilize such a small spine. SUMMARY OF BACKGROUND DATA: Aneurysmal bone cyst is an uncommon but well-recognized tumor affecting the spine of children. The mean age of presentation is 16 years. It has hardly been reported below the age of 4 years. All data are in the form of case reports or series. Surgical or nonoperative management can be used. Spinal implant systems are not designed for use in very small children. METHODS: Clinical data analysis. RESULTS: A girl presented at age 2 years and 3 months with cord compression at the cervicothoracic junction. After an inconclusive biopsy, a formal excision and reconstruction of the C7 and T1 were performed anteriorly and posteriorly. We used a fibular graft, internal fixation with crossed plates from the maxillofacial implant tray and a Cervifix rod contoured into a rectangle with sublaminar titanium cables. Postsurgery, she had a left Horner syndrome that has never recovered and motor weakness of the right arm that improved but did not fully recover. She developed a staphylococcal infection 6 months postsurgery that was managed by removal of the rectangle. She developed a posterior recurrence 10 months postsurgery, which was managed surgically. Follow-up has been for 7 years without further evidence of recurrence. CONCLUSIONS: Both surgical and nonsurgical management has been advocated for these tumors. The cord compression at presentation forced us toward surgical management. It is likely that observational data are the only evidence available for clinical decision-making. In this case, we were able to obtain good access to the front of the upper thoracic spine by a supraclavicular approach. Tiny plates are available to maxillofacial surgeons that can be adapted for use in the spines of small children.
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