@article{9cfa1bfc1b5340de80e49510fc04a22b,
title = "Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma",
abstract = "Mature teratomas are usually benign tumors that rarely undergo malignant transformation. We report an advanced neuroblastoma arising in a mature teratoma of the ovary. Whole-exome sequencing identified extensive copy-neutral loss of heterozygosity (LOH) in both neuroblastoma and teratoma elements, suggesting that the neuroblastoma evolved from the teratoma. In addition, several truncating germline heterozygous variants in tumor suppressor genes, including RBL2 and FBXW12, became homozygous as a result of LOH. Collectively, we speculate that extensive LOH in teratoma cells may force heterozygous germline variants to become homozygous, which, in turn, may contribute to the development of neuroblastoma with the acquisition of additional chromosomal changes.",
keywords = "cancer genome/genetics, copy-neutral loss of heterozygosity, genomic analysis, malignant transformation, neuroblastoma, teratoma",
author = "Rintaro Ono and Hiroo Ueno and Kenichi Yoshida and Satoko Takahashi and Hiroki Yoshihara and Taiki Nozaki and Koyu Suzuki and Atsuko Nakazawa and Ryunosuke Saiki and Masafumi Seki and Junko Takita and Seishi Ogawa and Atsushi Manabe and Daisuke Hasegawa",
note = "Funding Information: We would like to thank Dr. Yuichi Shiraishi and Dr. Satoru Miyano, The University of Tokyo, for data analysis with this study. This work was supported by the Japan Society for the Promotion of Science (JSPS) through Grants‐in‐Aid for Scientific Research (KAKENHI) (grant number JP26221308 and JP19H05656 to Seishi Ogawa) and also by the Japan Agency for Medical Research and Development (AMED), and the Project for Development of Innovative Research on Cancer Therapeutics (JP 20cm0106501h0005 to Seishi Ogawa). Funding Information: We would like to thank Dr. Yuichi Shiraishi and Dr. Satoru Miyano, The University of Tokyo, for data analysis with this study. This work was supported by the Japan Society for the Promotion of Science (JSPS) through Grants-in-Aid for Scientific Research (KAKENHI) (grant number JP26221308 and JP19H05656 to Seishi Ogawa) and also by the Japan Agency for Medical Research and Development (AMED), and the Project for Development of Innovative Research on Cancer Therapeutics (JP 20cm0106501h0005 to Seishi Ogawa). Publisher Copyright: {\textcopyright} 2021 The Authors. Cancer Science published by John Wiley & Sons Australia, Ltd on behalf of Japanese Cancer Association.",
year = "2021",
month = jul,
doi = "10.1111/cas.14931",
language = "English",
volume = "112",
pages = "2921--2927",
journal = "Cancer Science",
issn = "1347-9032",
publisher = "Wiley-Blackwell",
number = "7",
}
