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Genetic Profiling of Sebaceous Carcinoma Arising from an Ovarian Mature Teratoma: A Case Report

Authors :
Sumika Zaitsu
Yoko Aoyagi
Haruto Nishida
Kohei Nakamura
Mitsutake Yano
Eiji Kobayashi
Source :
International Journal of Molecular Sciences, Vol 25, Iss 12, p 6351 (2024)
Publication Year :
2024
Publisher :
MDPI AG, 2024.

Abstract

Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1–2% of OMTs; however, sebaceous carcinoma arising from OMTs is rare. This is the first report of a detailed genomic analysis of sebaceous carcinoma arising from an OMT. A 36-year-old woman underwent evaluation for abdominal tumors and subsequent hysterectomy and salpingo-oophorectomy. Pathologically, a diagnosis of stage IA sebaceous carcinoma arising from an OMT was established. Eight months post-surgery, the patient was alive without recurrence. Immunohistochemically, the tumor was negative for mismatch repair proteins. A nonsense mutation in TP53 (p.R306*) and a deletion in PIK3R1 were identified. Single nucleotide polymorphisms across all chromosomes displayed a high degree of homozygosity, suggestive of uniparental disomy. Herein, the OMT resulting from the endoreduplication of oocytes underwent a malignant transformation to sebaceous carcinoma via TP53 as an early event and PIK3R1 as a late event.

Details

Language :
English
ISSN :
14220067 and 16616596
Volume :
25
Issue :
12
Database :
Directory of Open Access Journals
Journal :
International Journal of Molecular Sciences
Publication Type :
Academic Journal
Accession number :
edsdoj.7e0db56fa7b7483584203e772da36dcc
Document Type :
article
Full Text :
https://doi.org/10.3390/ijms25126351