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Factors affecting adherence to a high-risk surveillance protocol among patients with Li-Fraumeni syndrome. 影响Li-Fraumeni综合征患者遵守高风险监测方案的因素
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-08-11 DOI: 10.1186/s13053-023-00259-z
Kaylee A Underkofler, Martha H Thomas, Christina J Taylor, Christa L Mazur, Sarah H Erickson, Kari L Ring

Background: High-risk surveillance for patients with Li-Fraumeni syndrome (LFS) has shown a stage shift and improved overall survival, but is demanding. Our objective was to evaluate surveillance adherence in a population of patients with LFS presenting for high-risk care.

Methods: A retrospective analysis of surveillance adherence of adult patients with LFS at a single institution was performed. Adherence was defined by the duration from initial University of Virginia (UVA) LFS clinic visit to the time of first missed surveillance test. Two-sample t-tests and ANOVA tests were used to identify factors associated with duration of adherence.

Results: A total of 42 patients were evaluated in the UVA LFS clinic between 2017 and 2021. Of these, 21 patients met inclusion criteria. At the time of review, 6 patients (29%) were up to date with high-risk surveillance recommendations. The mean duration of adherence was 17 months. Female sex was found to be associated with longer duration of adherence (mean 21 mo vs. 3.5 mo for males, p = 0.02). A personal history or active diagnosis of cancer was also associated with increased adherence (p = 0.02). However, neither age (p = 0.89), geography (p = 0.84), or known family history of LFS (p = 0.08) were associated with duration of adherence.

Conclusion: Female sex as well as a personal history of cancer were associated with longer duration of adherence to recommended high-risk surveillance among patients with LFS. Identification of barriers to surveillance will be essential moving forward to increase adherence and promote early detection of cancer, thereby reducing the morbidity and mortality of LFS.

背景:对Li-Fraumeni综合征(LFS)患者的高风险监测已经显示出一个阶段的转变和总体生存率的提高,但仍有要求。我们的目的是评估接受高风险治疗的LFS患者的监测依从性。方法:回顾性分析成人LFS患者在单一机构的监测依从性。依从性定义为从弗吉尼亚大学(UVA) LFS门诊就诊到第一次错过监测测试的时间。使用双样本t检验和方差分析检验来确定与依从时间相关的因素。结果:2017年至2021年间,共有42名患者在UVA LFS诊所接受了评估。其中,21例患者符合纳入标准。在回顾时,6例患者(29%)符合最新的高危监测建议。平均服药时间为17个月。研究发现,女性患者坚持服药的时间更长(平均21个月,男性3.5个月,p = 0.02)。个人病史或积极的癌症诊断也与依从性增加有关(p = 0.02)。然而,年龄(p = 0.89)、地理(p = 0.84)或已知的LFS家族史(p = 0.08)与坚持时间无关。结论:女性以及个人癌症病史与LFS患者更长的高危监测依从时间相关。确定监测障碍对于提高依从性和促进癌症的早期发现至关重要,从而降低LFS的发病率和死亡率。
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引用次数: 0
Using a multistep approach with multidisciplinary team to increase the diagnosis rate of Lynch syndrome-associated colorectal cancer after universal screening: a single-center study in Japan. 多学科团队采用多步骤方法提高普遍筛查后Lynch综合征相关结直肠癌的诊断率:日本一项单中心研究
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-07-17 DOI: 10.1186/s13053-023-00258-0
Kyota Tatsuta, Mayu Sakata, Moriya Iwaizumi, Risa Kojima, Katsumasa Yamanaka, Satoshi Baba, Katsunori Suzuki, Yoshifumi Morita, Hirotoshi Kikuchi, Yoshihiro Hiramatsu, Kiyotaka Kurachi, Hiroya Takeuchi

Backgrounds: This study aimed to evaluate the changes in the rates of genetic counseling and genetic testing as well as the diagnosis rate of Lynch syndrome (LS)-associated colorectal cancer before and after multistep approach with multidisciplinary team in Japanese.

Methods: In September 2016, we started universal screening for LS by mismatch repair protein immunohistochemistry and prospectively collected the records. Following patient interviews, we started multistep approach with multidisciplinary team (MA) in January 2020. MA consists of six surgeons, one genetic counselor, one medical geneticist, and six pathologists. MA is set up to compensate for patients' lack of knowledge about genetic diseases and make case selection for elderly colorectal cancer patients with deficient mismatch repair (dMMR). MA is designed as a system that could be performed by a small number of medical genetic specialists. A total of 522 patients were included during the study duration, 323 and 199 patients in the pre-MA (P-MA) and MA groups, respectively.

Results: The frequency of dMMR in all patients was 10.0%. The patient interview results indicated a significant lack of patient education regarding genetic diseases. The rates of genetic counseling and genetic testing was significantly higher in MA group than in P-MA group (genetic counseling: MA 34.6% vs. P-MA 7.7%, p = 0.04; genetic testing: MA 30.8% vs. P-MA 3.8%, p = 0.02). Moreover, the diagnosis rate of LS-associated colorectal cancer was significantly higher in MA group (2.5%) than in P-MA group (0.3%) (P = 0.03). In addition, MA could be performed without problems despite the small number of medical and human genetics specialists.

Conclusions: MA has achieved appropriate pickup of suspected hereditary colorectal cancer patients and complemented the lack of knowledge about genetic diseases. The introduction of MA increased LS-associated colorectal cancer after universal screening. MA is an appropriate LS screening protocol for Japanese patients who lag behind in medical and human genetics education.

背景:本研究旨在评估日本多学科团队在多步骤方法治疗前后Lynch综合征(LS)相关结直肠癌的遗传咨询率、基因检测率及诊断率的变化。方法:2016年9月开始采用错配修复蛋白免疫组化对LS进行普遍筛查,并前瞻性收集记录。在患者访谈之后,我们于2020年1月与多学科团队(MA)开始了多步骤方法。MA由6名外科医生、1名遗传咨询师、1名医学遗传学家和6名病理学家组成。MA的建立是为了弥补患者对遗传疾病知识的缺乏,并对老年结直肠癌dMMR缺陷患者进行病例选择。MA被设计成一个可以由少数医学遗传专家执行的系统。在研究期间共纳入522例患者,MA前组(P-MA)和MA组分别为323例和199例。结果:所有患者dMMR发生率为10.0%。患者访谈结果表明,明显缺乏关于遗传疾病的患者教育。MA组遗传咨询和基因检测率显著高于p -MA组(遗传咨询:MA 34.6% vs p -MA 7.7%, p = 0.04;基因检测:MA 30.8% vs p -MA 3.8%, p = 0.02)。MA组ls相关结直肠癌诊断率(2.5%)显著高于P-MA组(0.3%)(P = 0.03)。此外,尽管医学和人类遗传学专家的数量很少,但进行MA也可以没有问题。结论:MA实现了对疑似遗传性结直肠癌患者的适当拾取,补充了遗传疾病知识的不足。MA的引入增加了ls相关结直肠癌的普遍筛查。对于医学和人类遗传学教育落后的日本患者,MA是一种合适的LS筛查方案。
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引用次数: 0
Lynch-like syndrome with germline WRN mutation in Bulgarian patient with synchronous endometrial and ovarian cancer. 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 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-07-14 DOI: 10.1186/s13053-023-00257-1
Zornitsa Bogomilova Kamburova, Polina Damyanova Dimitrova, Diana Strateva Dimitrova, Katya Stefanova Kovacheva, Savelina Lubenova Popovska, Slavena Enkova Nikolova

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.

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。
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引用次数: 0
Meeting abstracts from the Annual Conference "Clinical Genetics of Cancer 2022". 会议摘要来自“2022年癌症临床遗传学”年会。
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-07-12 DOI: 10.1186/s13053-023-00253-5
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引用次数: 0
Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome. 青少年息肉病综合征中BMPR1a致病变异的基因型-表型相关性
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-07-03 DOI: 10.1186/s13053-023-00255-3
M E Papadopulos, J P Plazzer, F A Macrae

Background: Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45-60% of JPS cases, with BMPR1a DCVs accounting for 17-38% of JPS cases. Within those with either a BMPR1a or SMAD4 DCV, there is phenotypic variability in location of polyps, risk of malignancy and extra-intestinal manifestations with limited published reports of gene-phenotype association or genotype-phenotype correlation. We aimed to identify any gene-phenotype association or genotype-phenotype correlation in BMPR1a to inform surveillance recommendations, and gene-specific modification to the ACMG classification of pathogenicity of DCVs.

Methods: A literature search was performed through EMBASE, MEDLINE and PubMed. Studies that were included explored BMPR1a DCV-related JPS or contiguous deletion of PTEN and BMPR1a. Data was also drawn from the BMPR1a specific databases on LOVD and ClinVar.

Results: There were 211 DCVs in BMPR1a identified, 82 from patients with JPS in the literature, and 17 from LOVD and 112 from ClinVar classified as pathogenic or likely pathogenic. These included missense, nonsense and frameshift variants and large deletions, occurring across all functional domains of the gene. Unlike in SMAD4 carriers, gastric polyposis and malignancy were not identified in our review in BMPR1a carriers, but colonic polyposis and malignancy occurred in carriers of either BMPR1a or SMAD4 DCVs. Those with contiguous deletion of PTEN and BMPR1a can present with JPS of infancy, with a severe phenotype of GI bleeding, diarrhoea, exudative enteropathy and rectal prolapse. No specific BMPR1a genotype-phenotype correlation could be ascertained including by variant type or functional domain.

Conclusion: Phenotypic characteristics cannot be used to inform variant location in BMPR1a. However, the phenotypic characteristics of BMPR1a DCV carriers, being almost exclusively related to the colon and rectum, can assist in pathogenicity assessment of BMPR1a variants. Given these findings, we propose that carriers of BMPR1a DCVs should only require surveillance for colorectal polyps and malignancy, and that surveillance for gastric polyps and malignancy may be unnecessary. However variant location within BMPR1a does not support differential surveillance recommendations.

背景:青少年息肉病综合征(JPS)是一种常染色体显性遗传病,伴有胃肠道错构瘤性息肉,与胃肠道恶性肿瘤的风险增加有关。BMPR1a或SMAD4的致病变异(DCVs)占JPS病例的45-60%,其中BMPR1a DCVs占JPS病例的17-38%。在BMPR1a或SMAD4 DCV患者中,息肉的位置、恶性肿瘤的风险和肠外表现存在表型变异,基因-表型关联或基因-表型相关性的已发表报道有限。我们的目的是确定BMPR1a中任何基因-表型关联或基因型-表型相关性,以提供监测建议,并对dcv致病性的ACMG分类进行基因特异性修改。方法:通过EMBASE、MEDLINE和PubMed进行文献检索。纳入的研究探讨了BMPR1a dcv相关的JPS或PTEN和BMPR1a的连续缺失。数据也来自BMPR1a关于LOVD和ClinVar的特定数据库。结果:BMPR1a共鉴定出211例DCVs,其中82例来自文献报道的JPS患者,17例来自LOVD, 112例来自ClinVar,被分类为致病性或可能致病性。这些包括错义、无义、移码变异和大缺失,发生在基因的所有功能区域。与SMAD4携带者不同,在我们的综述中,BMPR1a携带者未发现胃息肉病和恶性肿瘤,但BMPR1a或SMAD4 DCVs携带者均发生结肠息肉病和恶性肿瘤。PTEN和BMPR1a连续缺失者可出现婴儿期JPS,并伴有严重的胃肠道出血、腹泻、渗出性肠病和直肠脱垂。没有明确的BMPR1a基因型与表型的相关性,包括变异类型或功能域。结论:表型特征不能用于BMPR1a的变异位置。然而,BMPR1a DCV携带者的表型特征几乎完全与结肠和直肠相关,可以帮助评估BMPR1a变异的致病性。鉴于这些发现,我们建议BMPR1a DCVs携带者只需要监测结直肠息肉和恶性肿瘤,而对胃息肉和恶性肿瘤的监测可能是不必要的。然而,BMPR1a内的变异位置不支持差别监测建议。
{"title":"Genotype-phenotype correlation of BMPR1a disease causing variants in juvenile polyposis syndrome.","authors":"M E Papadopulos,&nbsp;J P Plazzer,&nbsp;F A Macrae","doi":"10.1186/s13053-023-00255-3","DOIUrl":"https://doi.org/10.1186/s13053-023-00255-3","url":null,"abstract":"<p><strong>Background: </strong>Juvenile Polyposis Syndrome (JPS) is an autosomal dominant condition with hamartomatous polyps in the gastrointestinal tract, associated with an increased risk of gastrointestinal malignancy. Disease causing variants (DCVs) in BMPR1a or SMAD4 account for 45-60% of JPS cases, with BMPR1a DCVs accounting for 17-38% of JPS cases. Within those with either a BMPR1a or SMAD4 DCV, there is phenotypic variability in location of polyps, risk of malignancy and extra-intestinal manifestations with limited published reports of gene-phenotype association or genotype-phenotype correlation. We aimed to identify any gene-phenotype association or genotype-phenotype correlation in BMPR1a to inform surveillance recommendations, and gene-specific modification to the ACMG classification of pathogenicity of DCVs.</p><p><strong>Methods: </strong>A literature search was performed through EMBASE, MEDLINE and PubMed. Studies that were included explored BMPR1a DCV-related JPS or contiguous deletion of PTEN and BMPR1a. Data was also drawn from the BMPR1a specific databases on LOVD and ClinVar.</p><p><strong>Results: </strong>There were 211 DCVs in BMPR1a identified, 82 from patients with JPS in the literature, and 17 from LOVD and 112 from ClinVar classified as pathogenic or likely pathogenic. These included missense, nonsense and frameshift variants and large deletions, occurring across all functional domains of the gene. Unlike in SMAD4 carriers, gastric polyposis and malignancy were not identified in our review in BMPR1a carriers, but colonic polyposis and malignancy occurred in carriers of either BMPR1a or SMAD4 DCVs. Those with contiguous deletion of PTEN and BMPR1a can present with JPS of infancy, with a severe phenotype of GI bleeding, diarrhoea, exudative enteropathy and rectal prolapse. No specific BMPR1a genotype-phenotype correlation could be ascertained including by variant type or functional domain.</p><p><strong>Conclusion: </strong>Phenotypic characteristics cannot be used to inform variant location in BMPR1a. However, the phenotypic characteristics of BMPR1a DCV carriers, being almost exclusively related to the colon and rectum, can assist in pathogenicity assessment of BMPR1a variants. Given these findings, we propose that carriers of BMPR1a DCVs should only require surveillance for colorectal polyps and malignancy, and that surveillance for gastric polyps and malignancy may be unnecessary. However variant location within BMPR1a does not support differential surveillance recommendations.</p>","PeriodicalId":55058,"journal":{"name":"Hereditary Cancer in Clinical Practice","volume":"21 1","pages":"12"},"PeriodicalIF":1.7,"publicationDate":"2023-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9750877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
BRCA1/2 potential founder variants in the Jordanian population: an opportunity for a customized screening panel. 约旦人群中BRCA1/2潜在创始人变异:定制筛选小组的机会
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-07-03 DOI: 10.1186/s13053-023-00256-2
Olfat Ahmad, Christian Sutter, Steffen Hirsch, Stefan M Pfister, Christian P Schaaf

A founder variant is a genetic alteration, that is inherited from a common ancestor together with a surrounding chromosomal segment, and is observed at a high frequency in a defined population. This founder effect occurs as a consequence of long-standing inbreeding of isolated populations. For high-risk cancer predisposition genes, such as BRCA1/2, the identification of founder variants in a certain population could help designing customized cost-effective cancer screening panels. This advantage has been best utilized in designing a customized breast cancer BRCA screening panel for the Ashkenazi Jews (AJ) population, composed of the three BRCA founder variants which account for approximately 90% of identified BRCA alterations. Indeed, the high prevalence of pathogenic BRCA1/2 variants among AJ (~ 2%) has additionally contributed to make population-based screening cost-effective in comparison to family-history-based screening. In Jordan there are multiple demographic characteristics supporting the proposal of a founder effect. A high consanguinity rate of ~ 57% in the nineties of the last century and ~ 30% more recently is a prominent factor, in addition to inbreeding which is often practiced by different sub-populations of the country.This review explains the concept of founder effect, then applies it to analyze published Jordanian BRCA variants, and concludes that nine pathogenic (P) and likely pathogenic (LP) BRCA2 variants together with one pathogenic BRCA1 variant are potential founder variants. Together they make up 43% and 55% of all identified BRCA1/2 alterations in the two largest studied cohorts of young patients and high-risk patients respectively. These variants were identified based on being recurrent and either specific to ethnic groups or being novel. In addition, the report highlights the required testing methodologies to validate these findings, and proposes a health economic evaluation model to test cost-effectiveness of a population-based customized BRCA screening panel for the Jordanian population. The aim of this report is to highlight the potential utilization of founder variants in establishing customized cancer predisposition services, in order to encourage more population-based genomic studies in Jordan and similar populations.

始祖变异是一种遗传变异,它从一个共同的祖先和周围的染色体段遗传而来,在一个特定的人群中观察到的频率很高。这种建立者效应是孤立种群长期近亲繁殖的结果。对于高风险的癌症易感基因,如BRCA1/2,在特定人群中识别始祖变异可以帮助设计定制的具有成本效益的癌症筛查小组。这一优势在为德系犹太人(AJ)人群设计一个定制的乳腺癌BRCA筛查小组中得到了最好的利用,该小组由三种BRCA创始变异组成,约占已确定BRCA变异的90%。事实上,AJ中致病性BRCA1/2变异的高患病率(约2%)也使得基于人群的筛查比基于家族史的筛查更具成本效益。在约旦,有多种人口特征支持创始人效应的提议。在上个世纪九十年代高达57%的高血缘率和最近30%的高血缘率是一个突出的因素,此外,该国不同亚种群经常实行近亲繁殖。本综述解释了奠基者效应的概念,然后将其应用于分析已发表的约旦BRCA变异,并得出结论:9个致病性(P)和可能致病性(LP) BRCA2变异以及1个致病性BRCA1变异是潜在的奠基者变异。在两个最大的研究队列——年轻患者和高风险患者中,它们分别占所有确定的BRCA1/2改变的43%和55%。这些变异是根据复发性、特定于种族群体或新出现的变异来确定的。此外,该报告强调了验证这些发现所需的测试方法,并提出了一个健康经济评估模型,以测试基于人群的约旦人群定制BRCA筛查小组的成本效益。本报告的目的是强调创始人变异在建立定制癌症易感性服务中的潜在应用,以鼓励在约旦和类似人群中进行更多基于人群的基因组研究。
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引用次数: 0
Genetic testing for hereditary breast cancer in Poland: 1998-2022. 波兰遗传性乳腺癌的基因检测:1998-2022。
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-06-13 DOI: 10.1186/s13053-023-00252-6
Jacek Gronwald, Cezary Cybulski, Tomasz Huzarski, Anna Jakubowska, Tadeusz Debniak, Marcin Lener, Steven A Narod, Jan Lubinski

BRCA1 and BRCA2 mutations contribute to both breast cancer and ovarian cancer worldwide. In Poland approximately 4% of patients with breast cancers and 10% of patients with ovarian cancer carry a mutation in BRCA1. The majority of mutations consist of three founder mutations. A rapid inexpensive test for these three mutations can be used to screen all Polish adults at a reasonable cost. In the region of Pomerania of North-western Poland nearly half a million tests have been performed, in large part through engaging family doctors and providing ready access to testing through the Pomeranian Medical University. The following commentary provides a history of genetic testing for cancer in Pomerania and the current approach to facilitating access to genetic testing at the Cancer Family Clinic for all adults living in the region.

BRCA1和BRCA2突变在世界范围内都是乳腺癌和卵巢癌的诱因。在波兰,大约4%的乳腺癌患者和10%的卵巢癌患者携带BRCA1突变。大多数突变由三个创始突变组成。一种快速廉价的检测这三种突变的方法可以以合理的成本用于筛查所有波兰成年人。在波兰西北部的波美拉尼亚地区,进行了近50万次检查,主要是通过聘请家庭医生和通过波美拉尼亚医科大学提供方便的检查。以下评论介绍了波美拉尼亚癌症基因检测的历史,以及目前促进该地区所有成年人在癌症家庭诊所接受基因检测的方法。
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引用次数: 0
Beyond germline genetic testing - heterozygous pathogenic variants in PMS2 in two children with Osteosarcoma and Ependymoma. 种系基因检测之外——两例骨肉瘤和室管膜瘤患儿PMS2的杂合致病变异。
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-06-12 DOI: 10.1186/s13053-023-00254-4
Michaela Kuhlen, Mariola Monika Golas, Tina Schaller, Nicole Stadler, Felicitas Maier, Olaf Witt, Michael C Frühwald

Background: Lynch syndrome (LS) is not considered part of childhood cancer predisposition syndromes.

Case presentation: Analysis of a pediatric osteosarcoma (OS) displayed hypermutation (16.8), alternative lengthening of telomeres (ALT), loss of PMS2 expression in tumor tissue (retained in non-neoplastic cells), PMS2 loss of heterozygosity (LOH), and high-degree of microsatellite instability (MSI) tested by PCR. A heterozygous duplication c.1076dup p.(Leu359Phefs*6) in exon 10 of NM_000535.6:PMS2 was detected by SNV analysis in peripheral blood, confirming diagnosis of LS in the patient. The tumor molecular features suggest LS-associated development of OS. In a second case, whole-genome sequencing identified a heterozygous SNV c.1 A > T p.? in exon 1 of PMS2 in tumor and germline material of a girl with ependymoma. Tumor analysis displayed evidence for ALT and low mutational burden (0.6), PMS2 expression was retained, MSI was low. Multiplex ligation-dependent probe amplification identified no additional PMS2 variant and germline MSI testing did not reveal increased gMSI ratios in the patient´s lymphocytes. Thus, CMMRD was most closely excluded and our data do not suggest that ependymoma was related to LS in the child.

Conclusions: Our data suggest that the LS cancer spectrum may include childhood cancer. The importance of LS in pediatric cancers necessitates prospective data collection. Comprehensive molecular workup of tumor samples is necessary to explore the causal role of germline genetic variants.

背景:Lynch综合征(LS)不被认为是儿童癌症易感综合征的一部分。病例介绍:对一例儿童骨肉瘤(OS)的分析显示出高突变(16.8)、端粒选择性延长(ALT)、PMS2在肿瘤组织中的表达缺失(保留在非肿瘤细胞中)、PMS2杂合性缺失(LOH)和PCR检测的高度微卫星不稳定性(MSI)。外周血SNV分析检测到NM_000535.6:PMS2基因外显子10杂合重复c.1076dup p.(Leu359Phefs*6),诊断为LS。肿瘤分子特征提示与ls相关的OS发展。在第二个病例中,全基因组测序鉴定出一种杂合SNV c.1A > p ?在一个患有室管膜瘤的女孩的肿瘤和种系物质中发现PMS2外显子1。肿瘤分析显示ALT和低突变负荷(0.6),PMS2表达保留,MSI低。多重结扎依赖探针扩增未发现额外的PMS2变异,种系MSI检测未显示患者淋巴细胞gMSI比率增加。因此,我们最密切地排除了CMMRD,我们的数据并不表明室管膜瘤与儿童的LS有关。结论:我们的数据表明,LS癌症谱系可能包括儿童癌症。LS在儿童癌症中的重要性需要前瞻性数据收集。全面的肿瘤样本分子检查是必要的,以探索生殖系遗传变异的因果作用。
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引用次数: 0
Size matters in telomere biology disorders ‒ expanding phenotypic spectrum in patients with long or short telomeres. 端粒生物学疾病中的大小问题--扩大长端粒或短端粒患者的表型谱。
IF 2 4区 医学 Q3 ONCOLOGY Pub Date : 2023-05-15 DOI: 10.1186/s13053-023-00251-7
Anna Byrjalsen, Anna Engell Brainin, Thomas Kromann Lund, Mette Klarskov Andersen, Anne Marie Jelsig

The end of each chromosome consists of a DNA region termed the telomeres. The telomeres serve as a protective shield against degradation of the coding DNA sequence, as the DNA strand inevitably ‒ with each cell division ‒ is shortened. Inherited genetic variants cause telomere biology disorders when located in genes (e.g. DKC1, RTEL1, TERC, TERT) playing a role in the function and maintenance of the telomeres. Subsequently patients with telomere biology disorders associated with both too short or too long telomeres have been recognized. Patients with telomere biology disorders associated with short telomeres are at increased risk of dyskeratosis congenita (nail dystrophy, oral leukoplakia, and hyper- or hypo-pigmentation of the skin), pulmonary fibrosis, hematologic disease (ranging from cytopenia to leukemia) and in rare cases very severe multiorgan manifestations and early death. Patients with telomere biology disorders associated with too long telomeres have in recent years been found to confer an increased risk of melanoma and chronic lymphocytic leukemia. Despite this, many patients have an apparently isolated manifestation rendering telomere biology disorders most likely underdiagnosed. The complexity of telomere biology disorders and many causative genes makes it difficult to design a surveillance program which will ensure identification of early onset disease manifestation without overtreatment.

每条染色体的末端都有一个被称为端粒的 DNA 区域。端粒是防止编码 DNA 序列降解的保护罩,因为每次细胞分裂,DNA 链都会不可避免地缩短。当基因(如 DKC1、RTEL1、TERC、TERT)位于对端粒的功能和维护起作用的位置时,遗传基因变异就会导致端粒生物学疾病。随后,端粒生物失调患者被认为与端粒过短或过长有关。端粒生物学紊乱导致端粒过短的患者患先天性角化不良症(指甲营养不良、口腔白斑病、皮肤色素沉着过多或过少)、肺纤维化、血液病(从全血细胞减少症到白血病)的风险增加,在极少数情况下还会出现非常严重的多器官表现和早期死亡。近年来发现,患有端粒生物学疾病的端粒过长患者罹患黑色素瘤和慢性淋巴细胞白血病的风险增加。尽管如此,许多患者的表现显然是孤立的,因此端粒生物失调症很可能被诊断不足。由于端粒生物紊乱的复杂性和致病基因的多样性,很难设计出一种监测方案来确保在不过度治疗的情况下识别早期发病的疾病表现。
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引用次数: 0
Comparing telemedicine and in-person gastrointestinal cancer genetic appointment outcomes during the COVID-19 pandemic. 比较2019冠状病毒病大流行期间远程医疗和现场胃肠道癌症基因预约结果
IF 1.7 4区 医学 Q3 ONCOLOGY Pub Date : 2023-05-08 DOI: 10.1186/s13053-023-00250-8
Samantha Williams, Jessica E Ebrahimzadeh, Daniel Clay, Gillian Constantino, Jordan Heiman, Kirk J Wangensteen, Kathleen Valverde, Nadim Mahmud, Bryson W Katona

Background: The study purpose is to compare outcomes associated with completion of genetic testing between telemedicine and in-person gastrointestinal cancer risk assessment appointments during the COVID-19 pandemic.

Methods: Data was collected on patients with scheduled appointments between July 2020 and June 2021 in a gastrointestinal cancer risk evaluation program (GI-CREP) that utilized both telemedicine and in-person visits throughout the COVID-19 pandemic, and a survey was administered.

Results: A total of 293 patients had a GI-CREP appointment scheduled and completion rates of in-person versus telemedicine appointments were similar. Individuals diagnosed with cancer and those with Medicaid insurance had lower rates of appointment completion. Although telehealth was the preferred visit modality, there were no differences in recommending genetic testing nor in the consent rate for genetic testing between in-person and telemedicine visits. However, of patients who consented for genetic testing, more than three times more patients seen via telemedicine did not complete genetic testing compared to those seen in-person (18.3% versus 5.2%, p = 0.008). Furthermore, telemedicine visits had a longer turnaround time for genetic test reporting (32 days versus 13 days, p < 0.001).

Conclusions: Compared to in-person GI-CREP appointments, telemedicine was associated with lower rates of genetic testing completion, and longer turnaround time for results.

背景:本研究的目的是比较COVID-19大流行期间远程医疗和现场胃肠道癌症风险评估预约之间完成基因检测的相关结果。方法:收集2020年7月至2021年6月期间在胃肠道癌症风险评估项目(GI-CREP)中预约就诊的患者的数据,该项目在COVID-19大流行期间使用远程医疗和亲自就诊,并进行调查。结果:共有293例患者安排了GI-CREP预约,现场预约和远程预约的完成率相似。被诊断患有癌症的人和那些有医疗补助保险的人的预约完成率较低。虽然远程保健是首选的就诊方式,但在建议进行基因检测方面以及在亲自就诊和远程医疗就诊之间同意进行基因检测的比率方面没有差异。然而,在同意进行基因检测的患者中,通过远程医疗就诊的患者没有完成基因检测的人数是当面就诊的患者的三倍多(18.3%对5.2%,p = 0.008)。此外,远程医疗就诊的基因检测报告周转时间较长(32天对13天)。结论:与面对面的GI-CREP预约相比,远程医疗的基因检测完成率较低,结果周转时间较长。
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引用次数: 0
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Hereditary Cancer in Clinical Practice
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