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: ジャーナルへの寄稿記事

27 引用 (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.

元の言語英語
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
発行部数10
DOI
出版物ステータス出版済み - 10 1 2008

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Alveolar Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
Rhabdomyosarcoma
Differential Diagnosis
Carcinogenesis
Genes
Osteosarcoma
Allelic Imbalance
Second Primary Neoplasms
Retinoblastoma
Loss of Heterozygosity
Protein Binding
Sarcoma
Microsatellite Repeats
Real-Time Polymerase Chain Reaction
Immunohistochemistry
Pediatrics

All Science Journal Classification (ASJC) codes

  • Oncology
  • Cancer Research

これを引用

Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma : Special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype. / Kohashi, Kenichi; Oda, Yoshinao; Yamamoto, Hidetaka; Tamiya, Sadafumi; Takahira, Tomonari; Takahashi, Yukiko; Tajiri, Tatsuro; Taguchi, Tomoaki; Suita, Sachiyo; Tsuneyoshi, Masazumi.

:: Journal of Cancer Research and Clinical Oncology, 巻 134, 番号 10, 01.10.2008, p. 1097-1103.

研究成果: ジャーナルへの寄稿記事

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title = "Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma: Special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype",
abstract = "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.",
author = "Kenichi Kohashi and Yoshinao Oda and Hidetaka Yamamoto and Sadafumi Tamiya and Tomonari Takahira and Yukiko Takahashi and Tatsuro Tajiri and Tomoaki Taguchi and Sachiyo Suita and Masazumi Tsuneyoshi",
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month = "10",
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TY - JOUR

T1 - Alterations of RB1 gene in embryonal and alveolar rhabdomyosarcoma

T2 - Special reference to utility of pRB immunoreactivity in differential diagnosis of rhabdomyosarcoma subtype

AU - Kohashi, Kenichi

AU - Oda, Yoshinao

AU - Yamamoto, Hidetaka

AU - Tamiya, Sadafumi

AU - Takahira, Tomonari

AU - Takahashi, Yukiko

AU - Tajiri, Tatsuro

AU - Taguchi, Tomoaki

AU - Suita, Sachiyo

AU - Tsuneyoshi, Masazumi

PY - 2008/10/1

Y1 - 2008/10/1

N2 - 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.

AB - 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.

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