Extraskeletal myxoid chondrosarcoma of the thigh with a t(9;17) translocation

Yasuda,Taketoshi; Hori,Takeshi; Suzuki,Kayo; Kanamori,Masahiko; Nogami,Shigeharu; Yahara,Yasuhito; Kimura,Tomoatsu

doi:10.3892/ol.2011.526

Extraskeletal myxoid chondrosarcoma of the thigh with a t(9;17) translocation

Authors:
- Taketoshi Yasuda
- Takeshi Hori
- Kayo Suzuki
- Masahiko Kanamori
- Shigeharu Nogami
- Yasuhito Yahara
- Tomoatsu Kimura
View Affiliations

Affiliations: Department of Orthopaedic Surgery, University of Toyama, Toyama 930-0194, Japan, Department of Orthopaedic Surgery, Takaoka City Hospital, Toyama 933-8550, Japan
Published online on: December 19, 2011 https://doi.org/10.3892/ol.2011.526
Pages: 621-624

Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )

Metrics: Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )

Cited By (CrossRef): 0 citations Loading Articles...

Abstract

Extraskeletal myxoid chondrosarcomas (EMC) are relatively rare. We report a case of EMC of the thigh. A 41-year-old man presented with a tumor history of more than 4 months. Following open biopsy, wide resection of the tumor was performed. Histopathologically, the tumor had a multinodular architecture consisting of myxomatous areas demarcated by fibrous septa. Proliferation of uniform, round tumor cells with oval nuclei was observed. Well-formed hyaline cartilage and rhabdoid-like cells were not visible. Immunohistochemically, the tumor cells were positive for vimentin and S-100. The composite karyotype was 46,XY,t(9;17)(q22;q11),t(9;21)(q21;p13), and the diagnosis of EMC was made. No recurrence of the mass or metastasis was observed during a follow-up period of 4 years and 7 months. Only 50 cytogenetic cases of EMC, including our case, have been reported in the English literature thus far. Clinical presentation, radiological features and histopathological and cytogenetic findings are described, and the relevant literature is reviewed.

View Figures

View References

1	Enzinger FM and Shiraki M: Extraskeletal myxoid chondrosarcoma. An analysis of 34 cases. Hum Pathol. 3:421–435. 1972. View Article : Google Scholar : PubMed/NCBI
2	Hinrichs SH, Jaramillo MA, Gumerlock PH, Gardner MB, Lewis JP and Freeman AE: Myxoid chondrosarcoma with a translocation involving chromosomes 9 and 22. Cancer Genet Cytogenet. 14:219–226. 1985. View Article : Google Scholar : PubMed/NCBI
3	Turc-Carel C, Dal Cin P, Rao U, Karakousis C and Sandberg AA: Recurrent breakpoints at 9q31 and 22q12.2 in extraskeletal myxoid chondrosarcoma. Cancer Genet Cytogenet. 30:145–150. 1988. View Article : Google Scholar : PubMed/NCBI
4	Bridge JA, Sanger WG and Neff JR: Translocations involving chromosomes 2 and 13 in benign and malignant cartilaginous neoplasms. Cancer Genet Cytogenet. 38:83–88. 1989. View Article : Google Scholar : PubMed/NCBI
5	Orndal C, Carlén B, Akerman M, et al: Chromosomal abnormality t(9;22)(q22;q12) in an extraskeletal myxoid chondrosarcoma characterized by fine needle aspiration cytology, electron microscopy, immunohistochemistry and DNA flow cytometry. Cytopathology. 2:261–270. 1991. View Article : Google Scholar
6	Bridge JA, Bhatia PS, Anderson JR and Neff JR: Biologic and clinical significance of cytogenetic and molecular cytogenetic abnormalities in benign and malignant cartilaginous lesions. Cancer Genet Cytogenet. 69:79–90. 1993. View Article : Google Scholar : PubMed/NCBI
7	Stenman G, Andersson H, Mandahl N, Meis-Kindblom JM and Kindblom LG: Translocation t(9;22)(q22;q12) is a primary cytogenetic abnormality in extraskeletal myxoid chondrosarcoma. Int J Cancer. 62:398–340. 1995. View Article : Google Scholar : PubMed/NCBI
8	Hirabayashi Y, Ishida T, Yoshida MA, et al: Translocation (9;22)(q22;q12). A recurrent chromosome abnormality in extraskeletal myxoid chondrosarcoma. Cancer Genet Cytogenet. 81:33–37. 1995. View Article : Google Scholar : PubMed/NCBI
9	Sciot R, Dal Cin P, Fletcher C, et al: t(9;22)(q22-31;q11-12) is a consistent marker of extraskeletal myxoid chondrosarcoma: evaluation of three cases. Mod Pathol. 8:765–768. 1995.PubMed/NCBI
10	Rao UN, Surti U, Hoffner L, et al: Extraskeletal and skeletal myxoid chondrosarcoma: A multiparameter analysis of three cases including cytogenetic analysis and fluorescence in situ hybridization. Mol Diagn. 1:99–107. 1996. View Article : Google Scholar : PubMed/NCBI
11	Kilpatrick SE, Inwards CY, Fletcher CD, Smith MA and Gitelis S: Myxoid chondrosarcoma (chordoid sarcoma) of bone: a report of two cases and review of the literature. Cancer. 79:1903–1910. 1997. View Article : Google Scholar : PubMed/NCBI
12	Day SJ, Nelson M, Rosenthal H, Vergara GG and Bridge JA: Der(16)t(1;16)(q21;q13) as a secondary structural aberration in yet a third sarcoma, extraskeletal myxoid chondrosarcoma. Genes Chromosomes Cancer. 20:425–427. 1997. View Article : Google Scholar : PubMed/NCBI
13	Sjögren H, Meis-Kindblom JM, Kindblom LG, Åman P and Stenman G: Fusion of the EWS-related gene TAF2N to TEC in extraskeletal myxoid chondrosarcoma. Cancer Res. 59:5064–5067. 1999.PubMed/NCBI
14	Attwooll C, Tariq M, Harris M, Coyne JD, Telford N and Varley JM: Identification of a novel fusion gene involving hTAFII68 and CHN from a t(9;17)(q22;q11.2) translocation in an extraskeletal myxoid chondrosarcoma. Oncogene. 18:7599–7601. 1999. View Article : Google Scholar : PubMed/NCBI
15	Bjerkehagen B, Dietrich C, Reed W, et al: Extraskeletal myxoid chondrosarcoma: multimodal diagnosis and identification of a new cytogenetic subgroup characterized by t(9;17)(q22;q11). Virchows Arch. 435:524–530. 1999. View Article : Google Scholar : PubMed/NCBI
16	Sjögren H, Wedell B, Meis-Kindblom J, Kindblom LG and Stenman G: Fusion of the NH2-terminal domain of the basic helix-loop-helix protein TCF12 to TEC in extraskeletal myxoid chondrosarcoma with translocation t(9;15)(q22;q21). Cancer Res. 60:6832–6835. 2000.PubMed/NCBI
17	Panagopoulos I, Mertens F, Isaksson M, et al: Molecular genetic characterization of the EWS/CHN and RBP56/CHN fusion genes in extraskeletal myxoid chondrosarcoma. Genes Chromosomes Cancer. 35:340–52. 2002. View Article : Google Scholar : PubMed/NCBI
18	Reid R, de Silva MV and Paterson L: Poorly differentiated extraskeletal myxoid chondrosarcoma with t(9;22)(q22;q11) translocation presenting initially as a solid variant devoid of myxoid areas. Int J Surg Pathol. 11:137–141. 2003. View Article : Google Scholar
19	Sjögren H, Meis-Kindblom JM, Örndal C, et al: Studies on the molecular pathogenesis of extraskeletal myxoid chondrosarcoma: cytogenetic, molecular genetic, and cDNA microarray analyses. Am J Pathol. 162:781–792. 2003.PubMed/NCBI
20	Domanski HA, Carlén B, Mertens F and Akerman M: Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a case report with fine-needle aspiration biopsy, histopathology, electron microscopy, and cytogenetics. Ultrastruct Pathol. 27:363–368. 2003. View Article : Google Scholar
21	Nilsson M, Meza-Zepeda LA, Mertens F, Forus A, Myklebost O and Mandahl N: Amplification of chromosome 1 sequences in lipomatous tumors and other sarcomas. Int J Cancer. 109:363–369. 2004. View Article : Google Scholar : PubMed/NCBI
22	Shaffer LG and Tommerup N: An International System for Human Cytogenetic Nomenclature. S Karger; Basel: 2005
23	Tsuneyoshi M, Enjoji M, Iwasaki H and Shinohara N: Extraskeletal myxoid chondrosarcoma. A clinicopathologic and electron microscopic study. Acta Pathol Jpn. 31:439–447. 1981.PubMed/NCBI
24	Meis-Kindblom JM, Bergh P, Gunterberg B and Kindblom LG: Extraskeletal myxoid chondrosarcoma. A reappraisal of its morphologic spectrum and prognostic factors based on 117 cases. Am J Surg Pathol. 23:636–650. 1999. View Article : Google Scholar : PubMed/NCBI
25	Saleh G, Evans HL, Ro JY and Ayala AG: Extraskeletal myxoid chondrosarcoma. A clinicopathologic study of ten patients with long-term follow-up. Cancer. 702:827–830. 1992.PubMed/NCBI
26	Hashimoto H, Daimaru Y and Enjoji M: S-100 protein distribution in liposarcoma. An immunoperoxidase study with special reference to the distinction of liposarcoma from myxoid malignant fibrous histiocytoma. Virchows Arch A Pathol Anat Histopathol. 405:1–10. 1984. View Article : Google Scholar
27	Okamoto S, Hisaoka M, Ishida T, et al: Extraskeletal myxoid chondrosarcoma: a clinicopathologic, immunohistochemical, and molecular analysis of 18 cases. Hum Pathol. 32:1116–1124. 2001. View Article : Google Scholar : PubMed/NCBI
28	Hisaoka M, Ishida T, Imamura T and Hashimoto H: TFG is a novel fusion partner of NOR1 in extraskeletal myxoid chondrosarcoma. Genes Chromosomes Cancer. 40:325–328. 2004. View Article : Google Scholar : PubMed/NCBI
29	Lucas DR and Heim S: Extraskeletal myxoid chondrosarcoma. WHO Classification of Tumours, Pathology and Genetics of Tumours of Soft Tissue and Bone. Fletcher CDM, Unni K and Martens F: IARC Press; Lyon: pp. 213–215. 2002
30	Harris M, Coyne J, Tariq M, et al: Extraskeletal myxoid chondrosarcoma with neuroendocrine differentiation: a pathologic, cytogenetic, and molecular study of a case with a novel translocation t(9;17)(q22;q11.2). Am J Surg Pathol. 24:1020–1026. 2000. View Article : Google Scholar : PubMed/NCBI