تقرير
Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective.
| العنوان: | Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective. |
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| المؤلفون: | Vu JA; Mayo Clinic College of Medicine and Science, Mayo Clinic, Rochester, MN, USA., Thompson WS; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Klinkner DB; Department of Surgery, Division of Pediatric Surgery, Mayo Clinic, Rochester, MN, USA., Chattha A; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA., Wick M; Department Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, MN, USA., Case EJ; Office of Clinical Ethics, Mayo Clinic, Rochester, MN, USA., Collura C; Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, MN, USA., Kumar A; Department of Obstetrics and Gynecology, Mayo Clinic, Rochester, MN, USA. |
| المصدر: | Gynecologic oncology reports [Gynecol Oncol Rep] 2023 Aug 18; Vol. 49, pp. 101261. Date of Electronic Publication: 2023 Aug 18 (Print Publication: 2023). |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101652231 Publication Model: eCollection Cited Medium: Print ISSN: 2352-5789 (Print) Linking ISSN: 23525789 NLM ISO Abbreviation: Gynecol Oncol Rep Subsets: PubMed not MEDLINE |
| أسماء مطبوعة: | Original Publication: Amsterdam : Elsevier, [2013]- |
| مستخلص: | Loss of heterozygosity in the SMARCA4 gene is a hallmark feature of small cell carcinoma of the ovary, hypercalcemic type (SCCOHT), an aggressive ovarian cancer occurring in young adults and adolescents with an average age of 23 years and a median survival of less than fifteen months following diagnosis. Patients with germline pathogenic variants of SMARCA4 have a genetic predisposition to developing this aggressive ovarian cancer, a condition called rhabdoid tumor predisposition syndrome type 2 (RTPS2). Given the limited efficacy of surveillance imaging for ovarian neoplasm and the absence of an identified biomarker for the progression of this disease, asymptomatic patients who are found to possess pathogenic variants of the SMARCA4 gene following genetic testing are advised to consider risk-reducing bilateral salpingo-oophorectomy to eliminate the risk of SCCOHT. Given the reproductive impacts of this procedure, bioethical consultation must be considered when counseling patients with RTPS2, particularly for those who have not completed their desired course of family planning. In this report, we describe the bioethical considerations and outcomes for the case of a 6-year-old female with a pathogenic variant of SMARCA4 who underwent risk-reducing bilateral salpingo-oophorectomy (RRBSO). To our knowledge, this is the first time that this procedure has been reported in a prepubertal individual for cancer prevention in a patient with RTPS2. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2023 The Authors.) |
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| فهرسة مساهمة: | Keywords: BRG1; Four box method; Rhabdoid tumor predisposition syndrome type 2; Risk-reducing bilateral salpingo-oophorectomy; SMARCA4; Small cell carcinoma of the ovary hypercalcemic type |
| تواريخ الأحداث: | Date Created: 20230904 Latest Revision: 20230905 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC10474132 |
| DOI: | 10.1016/j.gore.2023.101261 |
| PMID: | 37663174 |
| قاعدة البيانات: | MEDLINE |
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