An extremely rare case of primary malignancy in giant cell tumor of bone, arising in the right femur and harboring H3F3A mutation

Yoshitane Tsukamoto, Hiroyuki Futani, Takako Kihara, Takahiro Watanabe, Shunsuke Kumanishi, Shohei Matsuo, Seiichi Hirota, Takafumi Ueda, Hidetaka Yamamoto, Shinichi Yoshiya

研究成果: Contribution to journalArticle査読

3 被引用数 (Scopus)

抄録

We experienced a case of primary malignancy in giant cell tumor of bone (GCTB), arising in the right femur and harboring H3F3A mutation. A 27-year-old Japanese male without any prior disease history complained of pain in his right hip joint and right lower limb. Radiological images revealed an osteolytic and multicystic lesion existing mainly at the proximal epiphysis of the right femur. Preoperative clinical diagnosis was GCTB, although irregular marginal sclerosis was an atypical radiographic finding for conventional GCTBs. Biopsy sample from the lesion revealed the coexistence of typical GCTB and undifferentiated high-grade round cell sarcoma. Despite of the wide local resection of the tumor with preoperative and postoperative chemotherapy, the patient died of multiple distant metastases of the tumor 9 months after the surgery. Since heterozygous H3F3A c. 103G>T (p. Gly34Trp) mutation was detected not only in the biopsy sample from the primary site with typical GCTB and high-grade sarcoma components but also in the resected material from the metastatic site with only pure high-grade sarcoma component, the tumor was considered originally derived from conventional GCTB and acquire malignant transformation to high-grade sarcoma. Thus, this is an extremely rare case of primary malignancy in GCTB and the first case report of primary malignancy in GCTB proved the presence of H3F3A mutation even in the sarcoma component.

本文言語英語
ページ(範囲)1504-1509
ページ数6
ジャーナルPathology Research and Practice
214
9
DOI
出版ステータス出版済み - 9 1 2018

All Science Journal Classification (ASJC) codes

  • Pathology and Forensic Medicine
  • Cell Biology

フィンガープリント 「An extremely rare case of primary malignancy in giant cell tumor of bone, arising in the right femur and harboring H3F3A mutation」の研究トピックを掘り下げます。これらがまとまってユニークなフィンガープリントを構成します。

引用スタイル