Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: Special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype

Kenichi Kohashi, Yoshinao Oda, Hidetaka Yamamoto, Sadafumi Tamiya, Tomonari Takahira, Yukiko Takahashi, Tatsuro Tajiri, Tomoaki Taguchi, Sachiyo Suita, Masazumi Tsuneyoshi

研究成果: Contribution to journalArticle査読

28 被引用数 (Scopus)

抄録

Purpose: Rhabdomyosarcoma (RMS), which is the most common pediatric soft tissue sarcoma, is classified into two major histologic subtypes, embryonal RMS (ERMS) and alveolar RMS (ARMS). RMS is occasionally reported to be the second neoplasm of hereditary retinoblastoma. Osteosarcoma is known as the most common second neoplasm of hereditary retinoblastoma, and tumorigenesis of osteosarcoma has been proven in previous studies to be related to the RB gene (RB1) alteration. Therefore, there might be a correlation between the tumorigenesis of RMS and RB1 alteration. Methods: We examined the RB protein (pRB) expression and RB1 alteration such as allelic imbalance (gain or loss) and homozygous deletion, using immunohistochemistry, microsatellite makers, and quantitative real-time PCR in 57 sporadic RMS. Results: Allelic imbalance was more frequently detected in ERMS (13/27), than in ARMS (3/20) (P = 0.04). Homozygous deletion on the protein-binding pocket domain of RB1 was found in 6 of 27 ERMS and in 2 of 20 ARMS (P = 0.24). Furthermore, immunohistochemical pRB labeling indexes (LI) in 31 ERMS (median value, 31%) were significantly reduced in comparison with those observed in 26 ARMS (median value, 85%) (P < 0.0001). Conclusions: Our results support the assertion that tumorigenesis of RMS may be associated with RB1 alteration especially in ERMS, as previously reported for osteosarcoma. As for the RB pathway, each subtype of RMS may have a different tumorigenesis. In addition, immunohistochemical pRB LI may have the potential to be a useful ancillary tool in the differential diagnosis of RMS subtypes.

本文言語英語
ページ(範囲)1097-1103
ページ数7
ジャーナルJournal of Cancer Research and Clinical Oncology
134
10
DOI
出版ステータス出版済み - 10 2008

All Science Journal Classification (ASJC) codes

  • 腫瘍学
  • 癌研究

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