Clonal evidence for the development of neuroblastoma with extensive copy-neutral loss of heterozygosity arising in a mature teratoma

Rintaro Ono, Hiroo Ueno, Kenichi Yoshida, Satoko Takahashi, Hiroki Yoshihara, Taiki Nozaki, Koyu Suzuki, Atsuko Nakazawa, Ryunosuke Saiki, Masafumi Seki, Junko Takita, Seishi Ogawa, Atsushi Manabe, Daisuke Hasegawa

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

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.

Original languageEnglish
Pages (from-to)2921-2927
Number of pages7
JournalCancer science
Volume112
Issue number7
DOIs
Publication statusPublished - 2021 Jul
Externally publishedYes

Keywords

  • cancer genome/genetics
  • copy-neutral loss of heterozygosity
  • genomic analysis
  • malignant transformation
  • neuroblastoma
  • teratoma

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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