Primary extraskeletal osteosarcoma: a clinicopathological study of 18 cases focusing on MDM2 amplification status

Kyoko Yamashita, Kenichi Kohashi, Yuichi Yamada, Yoshihiro Nishida, Hiroshi Urakawa, Yoshinao Oda, Shinya Toyokuni

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Abstract

Extraskeletal osteosarcoma (ESOS) is an uncommon malignant neoplasm. Most ESOSs are high grade, although some low-grade cases have been reported. A few cases of ESOS with MDM2 amplification have also been reported, suggesting some similarity to skeletal low-grade osteosarcoma such as parosteal osteosarcoma, where MDM2 is often amplified. However, the frequency of low-grade cases and cases with MDM2 amplification among ESOSs remains unknown, and their relationship is unclear. To clarify this, we examined 18 primary ESOS cases clinically, pathologically, and genetically, focusing on their MDM2 amplification status. Our cases comprised 10 men and 8 women whose mean age was 58.6 years; the most common site of the lesion was the thigh and buttock. There were one histologically low-grade case evaluated by biopsy specimen with an aggressive course and 2 relatively low-grade cases whose lesions were of low grade for the most part. MDM2 amplification status was revealed by fluorescence in situ hybridization in all 18 cases; 2 patients—histologically intermediate- and high-grade cases—were found to have MDM2 amplification. In conclusion, this study indicates that histologically low-grade and relatively low-grade cases of ESOS are not always associated with MDM2 amplification. The ESOS case with MDM2 amplification could be high grade, although MDM2-amplified dedifferentiated liposarcoma with osteogenic differentiation should be ruled out in making the diagnosis.

Original languageEnglish
Pages (from-to)63-69
Number of pages7
JournalHuman Pathology
Volume63
DOIs
Publication statusPublished - May 1 2017

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Osteosarcoma
Liposarcoma
Buttocks
Thigh
Fluorescence In Situ Hybridization
Biopsy
Neoplasms

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine

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Primary extraskeletal osteosarcoma : a clinicopathological study of 18 cases focusing on MDM2 amplification status. / Yamashita, Kyoko; Kohashi, Kenichi; Yamada, Yuichi; Nishida, Yoshihiro; Urakawa, Hiroshi; Oda, Yoshinao; Toyokuni, Shinya.

In: Human Pathology, Vol. 63, 01.05.2017, p. 63-69.

Research output: Contribution to journalArticle

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