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Review
. 2024 Jul;50(7):1132-1140.
doi: 10.1111/jog.15939. Epub 2024 Apr 10.

Sertoli-Leydig tumor and DICER1 gene mutation: A case series and literature review

Andrew A Durden  1 , Gemma K Cass  1 , Claire Newton  1   2
Affiliations
Review

Sertoli-Leydig tumor and DICER1 gene mutation: A case series and literature review

Andrew A Durden et al. J Obstet Gynaecol Res. 2024 Jul.

Abstract

Objective: Sertoli-Leydig cell tumors (SLCTs) are rare neoplasms occurring in young women with 60% associated with DICER1 mutations. This is only the second published case series of patients with SLCTs with associated DICER1 gene alterations. DICER1 syndrome is a rare inherited tumor-susceptibility syndrome affecting organs such as the ovaries. We use this case series to inform readers on this increasingly important condition in gynecology.

Methods and results: We present three young females presenting with secondary amenorrhoea, hirsutism, acne and in one case tonic-clonic seizures. All cases had high testosterone levels and an adnexal mass on ultrasound. Following surgical removal, pathology confirmed SLCTs and genetic testing followed. All three patients had DICER1 syndrome with two patients subsequently found to be related.

Discussion: The prevalence of DICER1 syndrome in the population is estimated to be 1 in 10 000 with a spectrum of sex cord stromal tumors affecting young women. The associated pathological classifications and management. This paper describes the DICER1 gene and the associated tumor predisposition syndrome alongside a surveillance protocol for use in clinical practice. It promotes discussion over the importance of early clinical genetics involvement in sex-cord stromal tumors and the associated difficulties in counseling in a young patient population. Genetic testing and early detection are imperative for targeted surveillance of at-risk organs to be performed but despite this there is no international guidance. The cases highlight the psychological impact of tumors in young patients and provokes an ethical discussion over DICER1 gene's inclusion in preimplantation genetics.

Conclusions: DICER1 syndrome is a rare but increasingly important condition in pediatric and adolescent gynecology with a paucity of published data and case reports. This makes international consensus on management and surveillance difficult.

Keywords: DICER1; Sertoli–Leydig; pre‐natal genetics; surveillance.

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References

REFERENCES

    1. Gui T, Cao D, Shen K, Yang J, Zhang Y, Yu Q, et al. A clinicopathological analysis of 40 cases of ovarian Sertoli‐Leydig cell tumors. Gynecol Oncol. 2012;127(2):384–389. https://doi.org/10.1016/j.ygyno.2012.07.114
    1. Fuller PJ, Leung D, Chu S. Genetics and genomics of ovarian sex cord‐stromal tumors. Clin Genet. 2017;91(2):285–291. https://doi.org/10.1111/cge.12917
    1. Sigismondi C, Gadducci A, Lorusso D, Candiani M, Breda E, Raspagliesi F, et al. Ovarian Sertoli‐Leydig cell tumors. A retrospective MITO study. Gynecol Oncol. 2012;125(3):673–676. https://doi.org/10.1016/j.ygyno.2012.03.024
    1. Bhat RA, Lim YK, Chia YN, Yam KL. Sertoli‐Leydig cell tumor of the ovary: analysis of a single institution database. J Obstet Gynaecol Res. 2013;39(1):305–310. https://doi.org/10.1111/j.1447-0756.2012.01928.x
    1. Young RH, Scully RE. Ovarian Sertoli–Leydig cell tumors: a clinicopathological analysis of 207 cases. Am J Surg Pathol. 1985;9(8):543–569. Available from: https://journals.lww.com/ajsp/Fulltext/1985/08000/Ovarian_Sertoli___Leyd...

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