保加利亚同步子宫内膜癌和卵巢癌患者伴有种系WRN突变的lynch样综合征

IF 2 4区 医学 Q3 ONCOLOGY
Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolova
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引用次数: 0

摘要

背景:同步子宫内膜和卵巢癌(SEOC)占女性所有同步妇科癌症的50-70%。大约14%的SEOC病例由Lynch综合征(LS)引起。在LS中广泛引入“普遍筛查”(所有结直肠癌病例和所有60岁之前诊断出的EC病例都应进行MMR缺乏症检测)导致了越来越多的疑似LS病例——MMR缺乏症肿瘤,但MMR基因没有种系突变。这些病例归因于所谓的Lynch-like综合征(LLS)。病例介绍:我们提出一例LLS与检测种系,可能致病性变异的WRN基因。先证者是一名51岁被诊断为SEOC的女性。两种肿瘤(子宫内膜和卵巢)的组织学均为子宫内膜样,MLH1和PMS蛋白表达缺失。下一代测序(NGS)基因检测检测到先证中WRN基因- c.4109del, p.(Asn1370ThrfsTer23)的种系突变(杂合状态)。结论:本病例有助于LLS的病因学,并证实在遗传性癌症综合征中需要进行特定的基因检测和遗传咨询。临床医生、病理学家、遗传咨询师的综合信息,以及NGS检测的癌症易感性、临床监测和妇科癌症(特别是SEOC)妇女随访管理数据的使用,可以得到改善。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer.

Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer.

Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer.

Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer.

Background: Synchronous endometrial and ovarian cancer (SEOC) accounts for 50-70% of all synchronous gynecology cancers in women. Approximately 14% of SEOC cases are caused by Lynch syndrome (LS). The widespread introduction of "universal screening" at LS (all cases with CRC and all EC cases diagnosed before age 60 should be tested for MMR deficiency) has led to an increasing number of suspected LS cases- MMR-deficient tumors without germline mutation in the MMR genes. These cases are attributed to the so-called Lynch-like syndrome (LLS).

Case presentation: We present a case of LLS with a detected germline, likely pathogenic variant in the WRN gene. The proband was a woman diagnosed with SEOC at the age of 51 years. Histology of both tumors (endometrium and ovary) was endometroid and showed loss of MLH1 and PMS protein expression. Genetic testing by next generation sequencing (NGS) detected a germline mutation (in the heterozygous state) in the WRN gene - c.4109del, p.(Asn1370ThrfsTer23) in the proband.

Conclusions: The presented case contributes to the etiology of LLS and confirms the need for specific genetic testing, together with genetic counseling, in hereditary cancer syndromes. The use of combined information from clinicians, pathologists, genetic counselors, and data from NGS testing for cancer predisposition, clinical surveillance, and follow-up management in women with gynecology cancers, especially SEOC, could be improved.

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来源期刊
CiteScore
3.10
自引率
5.90%
发文量
38
审稿时长
>12 weeks
期刊介绍: Hereditary Cancer in Clinical Practice is an open access journal that publishes articles of interest for the cancer genetics community and serves as a discussion forum for the development appropriate healthcare strategies. Cancer genetics encompasses a wide variety of disciplines and knowledge in the field is rapidly growing, especially as the amount of information linking genetic differences to inherited cancer predispositions continues expanding. With the increased knowledge of genetic variability and how this relates to cancer risk there is a growing demand not only to disseminate this information into clinical practice but also to enable competent debate concerning how such information is managed and what it implies for patient care. Topics covered by the journal include but are not limited to: Original research articles on any aspect of inherited predispositions to cancer. Reviews of inherited cancer predispositions. Application of molecular and cytogenetic analysis to clinical decision making. Clinical aspects of the management of hereditary cancers. Genetic counselling issues associated with cancer genetics. The role of registries in improving health care of patients with an inherited predisposition to cancer.
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