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

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...

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Bibliographic Details
Published in:International journal of molecular sciences 2024-06, Vol.25 (12), p.6351
Main Authors: Zaitsu, Sumika, Aoyagi, Yoko, Nishida, Haruto, Nakamura, Kohei, Yano, Mitsutake, Kobayashi, Eiji
Format: Article
Language:English
Subjects:
Abdomen
Adenocarcinoma, Sebaceous - genetics
Adenocarcinoma, Sebaceous - pathology
Adult
Case Report
Case reports
Cell division
Cell Transformation, Neoplastic - genetics
Chromosomes
Class Ia Phosphatidylinositol 3-Kinase - genetics
Conflicts of interest
Development and progression
Female
Genes
Genetic aspects
Genomes
Genomics
Humans
Melanoma
Mutation
Oophorectomy
Ovarian Neoplasms - genetics
Ovarian Neoplasms - pathology
Ovarian Neoplasms - surgery
Ovaries
Polymorphism, Single Nucleotide
Skin cancer
Software
Squamous cell carcinoma
Teratoma - genetics
Teratoma - pathology
Thyroid diseases
Tumor Suppressor Protein p53 - genetics
Tumors
Yeast
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Summary: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 (p.R306*) and a deletion in 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 as an early event and as a late event.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms25126351