Clonal evidence for the development of neuroblastoma with extensive copy‐neutral loss of heterozygosity arising in a mature teratoma. Issue 7 (6th May 2021)

• Record Type: Journal Article
• Authors: Ono, Rintaro; Ueno, Hiroo; Yoshida, Kenichi; Takahashi, Satoko; Yoshihara, Hiroki; Nozaki, Taiki; Suzuki, Koyu; Nakazawa, Atsuko; Saiki, Ryunosuke; Seki, Masafumi; Takita, Junko; Ogawa, Seishi; Manabe, Atsushi; Hasegawa, Daisuke
• Is Part Of: Cancer science. Volume 112:Issue 7(2021)
• Page Start: 2921
• Page End: 2927
• Publication Date: 2021-05-06
• Subjects: cancer genome/genetics -- copy‐neutral loss of heterozygosity -- genomic analysis -- malignant transformation -- neuroblastoma -- teratoma; Cancer -- Periodicals; Neoplasms -- Periodicals; Research -- Periodicals; Electronic journals; 616.994005
• DOI: 10.1111/cas.14931
• Languages: English
• ISSNs: 1347-9032

Abstract

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. Abstract : A model of malignant transformation from teratoma to neuroblastoma.