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儿童双侧异时性睾丸生殖细胞肿瘤和睾丸微结石症:基因分析与见解。病例报告

Bilateral methachronous testicular germ cell tumor and testicular microlithiasis in a child: Genetic analysis and insights. A case report.

作者信息

Boudaoud N, Loron G, Pons M, Landais E, Kozal S, Doco-Fenzy M, Poli-Merol M L

机构信息

Department of Pediatric Surgery, American Memorial Hospital, CHU REIMS, France.

Department of Pediatrics, American Memorial Hospital, CHU REIMS, France.

出版信息

Int J Surg Case Rep. 2017;41:76-79. doi: 10.1016/j.ijscr.2017.09.035. Epub 2017 Oct 15.

DOI:10.1016/j.ijscr.2017.09.035
PMID:29040905
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5645006/
Abstract

OBJECTIVES

To report our experience with a case of a child with bilateral testicular micro-lithiasis (TML) who developed bilateral metachronous testicular germ cell tumor (TGCT) and determine the most appropriate follow-up and care management in children with testicular micro calcifications in regards to the theoretical risk of testicular cancer.

CASE REPORT

A 12 year-old boy was diagnosed with TGCT and TML. Ten years after complete remission, he presented with a recurrence on the contralateral testis. Genetic screening was performed on both resected and the patient's karyotype was analyzed.

RESULTS

Blood karyotype was normal. Aberrations were found in the tumor karyotype. CGH array showed alterations in chromosome arm 12p.

DISCUSSION

TML is frequently associated with testicular malignancy in adults: in 16.9% of cases the normal contralateral testicle develops TML in TGCT. Recent works of literature find no relationship between TML and cancer in general, but in patients with additional risks, the relationship becomes stronger. Some authors suggest that environmental components and genetics are determinant factors. This is highly suspected in our reported case. It would seem that TML is not a precancerous lesion per se, but rather a marker of an at-risk situation. Long term evolution is uncertain and regular self-palpation that starts before puberty is the only way to ensure proper screening and monitoring.

CONCLUSION

TML have been suspected to be a sign of testicular dysgenesis syndrome, which yields a risk of developing TGCT in case of noxious associations. In patients with a history of TGCT contralateral TML is alarming and aggressive surgical management should be discussed. Therapeutic education of these patients on self-palpation is the best way to ensure proper follow-up.

摘要

目的

报告一例双侧睾丸微结石症(TML)患儿发生双侧异时性睾丸生殖细胞肿瘤(TGCT)的经验,并根据睾丸癌的理论风险确定睾丸微钙化患儿最合适的随访及护理管理措施。

病例报告

一名12岁男孩被诊断为TGCT和TML。完全缓解10年后,他对侧睾丸出现复发。对切除的组织进行了基因筛查,并分析了患者的核型。

结果

血液核型正常。肿瘤核型发现异常。比较基因组杂交阵列显示12号染色体短臂有改变。

讨论

TML在成人中常与睾丸恶性肿瘤相关:在16.9%的病例中,TGCT患者对侧正常睾丸会发生TML。最近的文献研究发现TML与一般癌症之间没有关系,但在有其他风险的患者中,这种关系更为密切。一些作者认为环境因素和遗传因素是决定性因素。在我们报告的病例中高度怀疑这一点。似乎TML本身不是癌前病变,而是一种高危情况的标志物。长期演变尚不确定,青春期前开始定期自我触诊是确保适当筛查和监测的唯一方法。

结论

TML被怀疑是睾丸发育异常综合征的一个迹象,在有害关联的情况下会增加发生TGCT的风险。有TGCT病史的患者,对侧TML令人担忧,应讨论积极的手术管理措施。对这些患者进行自我触诊的治疗教育是确保适当随访的最佳方法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61e4/5645006/9bcd7644e917/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61e4/5645006/9bcd7644e917/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/61e4/5645006/9bcd7644e917/gr1.jpg

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Radiology. 2017 Nov;285(2):576-583. doi: 10.1148/radiol.2017162625. Epub 2017 Jul 17.
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Testicular microlithiasis and testicular cancer: review of the literature.睾丸微结石症与睾丸癌:文献综述
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儿童和青少年睾丸微石症的长期随访:意大利小儿泌尿外科协会的多中心前瞻性队列研究
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