Hypoxia-associated genetic signature in ovarian steroid cell tumor NOS

Author:

Chao Angel12,Huang Huei-Jean12,Lin Chiao-Yun12ORCID,Lee Chia-Hwa12,Lin Chien-Hsing3,Chao An-Shine14,Lai Chyong-Huey12,Chang Ting-Chang12,Wu Kai-Yun12,Wu Ren-Chin25ORCID

Affiliation:

1. Department of Obstetrics and Gynecology, Linkou Chang Gung Memorial Hospital, and Chang Gung University College of Medicine, Taoyuan, Taiwan

2. Gynecologic Cancer Research Center, Linkou Chang Gung Memorial Hospital, and Chang Gung University College of Medicine, Taoyuan, Taiwan

3. Taiwan Genomic Industry Alliance Inc., Taipei, Taiwan

4. Department of Obstetrics and Gynecology, New Taipei Municipal Tu Cheng Hospital, New Taipei City, Taiwan

5. Department of Anatomic Pathology, Linkou Chang Gung Memorial Hospital, and Chang Gung University College of Medicine, Taoyuan, Taiwan

Abstract

Steroid cell tumors, not otherwise specified (SCT-NOS), are uncommon ovarian neoplasms accompanied by virilization symptoms due to hyperandrogenism, which are malignant in approximately one-third of the cases. Given the rarity of SCT-NOS, their molecular underpinnings have not yet been studied in depth. In this case series, we performed the first comprehensive analysis of the genetic landscape of this rare ovarian tumor. A detailed clinicopathological description of an index case is also provided. Over a 20-year period, a total of eight patients were seen at our institution. Total nucleic acids (RNA and DNA) were extracted from evaluable formalin-fixed, paraffin-embedded tumor specimens (n = 7) and subjected to TruSight Oncology 500 testing and/or exome sequencing. The results identified pathogenic variants in several hypoxia-related genes – including HIF1A, VHL, SDHB, SRC, IDH2, and FOXO4. As the first comprehensive genetic analysis of SCT-NOS, this study shows that dysregulation in the hypoxia signaling pathway is a key molecular feature of this rare tumor. Clinically, long-term follow-up with periodic measurements of androgen levels should be pursued in all cases since recurrences may occur several years after the initial diagnosis.

Publisher

Bioscientifica

Subject

Cancer Research,Endocrinology,Oncology,Endocrinology, Diabetes and Metabolism

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1. Ovarian steroid cell tumors: what do we know so far?;Frontiers in Oncology;2024-01-30

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