Elsevier

Human Pathology

Volume 32, Issue 10, October 2001, Pages 1116-1124
Human Pathology

Original Contributions
Extraskeletal myxoid chondrosarcoma: A clinicopathologic, immunohistochemical, and molecular analysis of 18 cases,☆☆

https://doi.org/10.1053/hupa.2001.28226Get rights and content

Abstract

Extraskeletal myxoid chondrosarcoma (EMCS) is an uncommon clinicopathologically well-defined tumor, but its pathogenesis and biologic behavior are poorly understood. We reviewed 18 cases of EMCS to verify clinicopathologic features and immunohistochemical profiles together with molecular detection of the tumor-specific fusion genes. The tumors were located mainly in the proximal extremities and limb girdles (72%). Two tumors arose at unusual anatomic sites: the finger and the hip joint. Nine of the 17 followed-up patients were alive and disease free, 4 were alive with recurrences and/or metastases, and 4 died of the tumor. Fifteen tumors showed typical features of EMCS, and 3 had hypercellular areas in addition to conventional EMCS areas. The tumors were variably immunoreactive for S-100 protein (50%), NSE (89%), peripherin (60%), and synaptophysin (22%). Chromogranin A and some epithelial markers (AE1/AE3, CAM5.2, and epithelial membrane antigen) were entirely negative. Frequent expressions of the neural/neuroendocrine markers suggest possible neural/neuroendocrine differentiation in at least some EMCSs, in addition to chondroid differentiation. In a reverse-transcription polymerase chain reaction (RT-PCR) assay using paraffin-embedded specimens, EWS-CHN or TAF2N-CHN fusion gene transcripts characteristic of EMCS could be detected in 15 (83%) of the 18 cases: EWS-CHN type 1 in 11 cases, EWS-CHN type 2 in 1, and TAF2N-CHN in 3. Three fusion-negative cases included 2 conventional EMCSs and 1 considered a “cellular” variant of the tumor. None of 30 other soft tissue and bone tumors with myxoid or chondroid morphology that we examined contained these fusion genes. Thus, RT-PCR detection of EWS-CHN or TAF2N-CHN fusion gene using archival paraffin-embedded tissue is a feasible and useful ancillary technique for the diagnosis of EMCS. HUM PATHOL 32:1116-1124. Copyright © 2001 by W.B. Saunders Company

Section snippets

Materials

Eighteen cases of EMCS were selected from the files of soft tissue tumors of the authors (H.H., T. Ishida, T. Imamura, and H.K.), and the original hematoxylin and eosin–stained slides of each case were reviewed. In 1 of the 18 cases, the clinicopathologic, ultrastructural, and cytogenetic findings had been reported previously (case 5).25 Initially, 21 cases were originally diagnosed as EMCS, but 3 of them were excluded from the present study because they were reclassified as other tumor

Clinical findings

Clinical details of the 18 patients are summarized in Table 3.There were 10 men and 8 women, whose ages ranged from 26 to 75 years (median, 45 years; mean, 47.4 years). The tumors were located in the thigh (8 cases), upper arm (2 cases), lower leg (2 cases), buttock (1 case), shoulder (1 case), back (1 case), foot (1 case), finger (1 case), and hip joint (1 case). The duration of a symptom before diagnosis ranged from 2 months to 25 years (median, 4 years; mean, 5.1 years). All patients

Discussion

EMCSs account for approximately 2.5% of soft tissue sarcoma,9 commonly occur in middle-aged adults, and arise mainly in the proximal extremities and limb girdles. Generally, EMCS is considered a tumor showing chondroid differentiation. Chondroid differentiation has been suggested by the results of histochemical or immunohistochemical studies showing the presence of chondroitin-4 and 6-sulphate in an intercellular matrix in EMCS9, 11, 13 and S-100 protein positivity,3, 13 by the ultrastructural

Acknowledgements

The authors thank the following pathologists for providing case material and clinical information to this study: Dr S. Teshima, Douai Memorial Hospital; Dr K. Mizuguchi, Mizonokuchi Hospital, Teikyo University School of Medicine; Dr T. Kasuga, Nakano General Hospital; Drs H. Horiuchi and S. Matsuya, Kanto Medical Center NTT EC; Dr K. Hara, Aichi Medical University; Dr K. Iwasaki, Sasebo Municipal General Hospital; Dr M. Takeshita, National Hospital Kyushu Medical, Center; Dr S. Era, Beppu

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    Supported in part by grants-in-aid from the Ministry of Education, Science, Sports and Culture, Japan (12770102 and 12670184), and by a grant from the Fukuoka Cancer Society, Japan, 2000.

    ☆☆

    Address correspondence and reprint requests to Hiroshi Hashimoto, MD, Department of Pathology and Oncology, School of Medicine, University of Occupational and Environmental Health, 1-1 Iseigaoka, Yahatanishi-ku, Kitakyushu 807-8555, Japan.

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