دورية أكاديمية
أعرض في EDS

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

التفاصيل البيبلوغرافية
العنوان: Sertoli-Leydig tumor and DICER1 gene mutation: A case series and literature review.
المؤلفون: Durden AA; Department of Gynaecology Oncology, St Michael's Hospital, University Hospital Bristol and Weston NHS Trust, Bristol, England., Cass GK; Department of Gynaecology Oncology, St Michael's Hospital, University Hospital Bristol and Weston NHS Trust, Bristol, England., Newton C; Department of Gynaecology Oncology, St Michael's Hospital, University Hospital Bristol and Weston NHS Trust, Bristol, England.; University of Bristol, Bristol, England.
المصدر: The journal of obstetrics and gynaecology research [J Obstet Gynaecol Res] 2024 Jul; Vol. 50 (7), pp. 1132-1140. Date of Electronic Publication: 2024 Apr 10.
نوع المنشور: Case Reports; Journal Article; Review
اللغة: English
بيانات الدورية: Publisher: Wiley on behalf of the Japan Society of Obstetrics and Gynecology] Country of Publication: Australia NLM ID: 9612761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1447-0756 (Electronic) Linking ISSN: 13418076 NLM ISO Abbreviation: J Obstet Gynaecol Res Subsets: MEDLINE
أسماء مطبوعة: Publication: [Melbourne, Vic. : Wiley on behalf of the Japan Society of Obstetrics and Gynecology]
Original Publication: Tokyo : University of Tokyo Press, c1996-
مواضيع طبية MeSH: Ribonuclease III*/genetics , Sertoli-Leydig Cell Tumor*/genetics , DEAD-box RNA Helicases*/genetics, Humans ; Female ; Mutation ; Adolescent ; Adult ; Young Adult ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/diagnosis
مستخلص: 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.
(© 2024 Japan Society of Obstetrics and Gynecology.)
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فهرسة مساهمة: Keywords: DICER1; Sertoli–Leydig; pre‐natal genetics; surveillance
المشرفين على المادة: EC 3.1.26.3 (Ribonuclease III)
EC 3.1.26.3 (DICER1 protein, human)
EC 3.6.4.13 (DEAD-box RNA Helicases)
تواريخ الأحداث: Date Created: 20240410 Date Completed: 20240708 Latest Revision: 20240802
رمز التحديث: 20240802
DOI: 10.1111/jog.15939
PMID: 38599636
قاعدة البيانات: MEDLINE
الوصف
تدمد:1447-0756
DOI:10.1111/jog.15939