Plevová Pavlína, Geržová Hedvika
Klin Onkol. 2019 Summer;32(Supplementum2):79-91. doi: 10.14735/amko2019S79.
Ovarian tumors in childhood and adolescence are distinguished from those that arise in adulthood by their histological subtype. These tumors may arise as the first manifestation of a cancer predisposition syndrome. Correct diagnosis of the syndrome may offer the possibility of surveillance for other members of the patients family.
To summarize current knowledge about paediatric ovarian tumors that may be associated with genetically defined cancer syndromes. Juvenile granulosa cell tumors occur in those with Ollier disease and Maffucci syndrome; they are caused by postzygotic IDH1 and IDH2 gene mutations. Sertoli-Leydig cell tumors usually arise in association with DICER1 syndrome, which is caused by germline DICER1 gene mutations. Sex cord tumors with annular tubules and Sertoli cell tumors may arise in patients with Peutz-Jeghers syndrome; this syndrome is caused by germline STK11 gene mutations. The majority of germ cell tumors develop in the context of gonadal dysgenesis. In XY gonadal dysgenesis, the presence of a Y chromosome material renders the patient at increased risk for developing gonadal malignancy. Characteristically, these patients develop gonadoblastoma, which has the potential to evolve into dysgerminoma and exhibit malignant behavior. Sex-chromosome aneuploidy syndromes or mutations in genes involved in gonadal development and differentiation may cause gonadal dysgenesis. Small cell carcinoma of the ovary of a hypercalcaemic type is usually caused by loss-of-function mutations in the SMARCA4 gene.
Ovarian tumors are uncommon during childhood and adolescence. It is always necessary to consider gonadal dysgenesis or any of the inherited cancer syndromes. These patients require interdisciplinary care, careful noting of personal and family history, precise clinical examination, laboratory testing, and differential diagnosis by a clinician with a good knowledge of genetic syndromes. Expert pathological review may be required for correct diagnoses. This is necessary for appropriate management and to establish an association with hereditary cancer syndromes. The work was supported by the Ministry of Health of the Czech Republic - Conceptual Development of Research Organization, Faculty Hospital of Ostrava /2015. We thank to Lenka Foretová, M.D., Ph.D., (MMCI, Brno) and Radoslava Tomanová, M.D., (Institute of Pathology, University Hospital Ostrava) for rewarding advice, Mrs. Jana Němcová (Department of Medical Genetics, University Hospital Ostrava), Bc. Ludmila Stuchlá and Mrs. Lenka Zivčáková (Medical Library, University Hospital Ostrava) for help during manuscript preparation. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manuscript met the ICMJE recommendation for biomedical papers. Submitted: 10. 3. 2019 Accepted: 16. 4. 2019.
儿童期和青春期的卵巢肿瘤在组织学亚型上与成年期出现的卵巢肿瘤有所不同。这些肿瘤可能是癌症易感综合征的首发表现。正确诊断该综合征可能为对患者家族其他成员进行监测提供可能。
总结目前关于可能与基因定义的癌症综合征相关的儿科卵巢肿瘤的知识。青少年颗粒细胞瘤发生于患有骨软骨瘤病和马富西综合征的患者中；它们由合子后IDH1和IDH2基因突变引起。支持间质细胞瘤通常与DICER1综合征相关，该综合征由种系DICER1基因突变引起。伴有环状小管的性索肿瘤和支持细胞瘤可能发生于佩-杰综合征患者中；该综合征由种系STK11基因突变引起。大多数生殖细胞肿瘤在性腺发育不全的背景下发生。在XY性腺发育不全中，Y染色体物质的存在使患者发生性腺恶性肿瘤的风险增加。典型的是，这些患者会发生性腺母细胞瘤，其有可能演变为无性细胞瘤并表现出恶性行为。性染色体非整倍体综合征或参与性腺发育和分化的基因突变可能导致性腺发育不全。高钙血症型卵巢小细胞癌通常由SMARCA4基因的功能丧失性突变引起。
卵巢肿瘤在儿童期和青春期并不常见。始终有必要考虑性腺发育不全或任何一种遗传性癌症综合征。这些患者需要多学科护理，仔细记录个人和家族史，进行精确的临床检查、实验室检测，并由熟悉遗传综合征的临床医生进行鉴别诊断。可能需要专家病理评估以做出正确诊断。这对于适当的管理以及建立与遗传性癌症综合征的关联是必要的。这项工作得到了捷克共和国卫生部 - 奥斯特拉瓦大学医院研究组织的概念发展项目/2015的支持。我们感谢Lenka Foretová医学博士、哲学博士（布尔诺摩拉维亚癌症研究所）和Radoslava Tomanová医学博士（奥斯特拉瓦大学医院病理研究所）提供的宝贵建议，感谢Jana Němcová夫人（奥斯特拉瓦大学医院医学遗传学系）、Bc. Ludmila Stuchlá和Lenka Zivčáková夫人（奥斯特拉瓦大学医院医学图书馆）在稿件准备过程中提供的帮助。作者声明他们在研究中使用的药物、产品或服务方面不存在潜在利益冲突。编辑委员会声明该稿件符合ICMJE对生物医学论文的建议。提交日期：2019年3月10日。接受日期：2019年4月16日。
