Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background.

IF 2 4区医学 Q3 ONCOLOGY

Hereditary Cancer in Clinical Practice Pub Date : 2022-01-20 DOI:10.1186/s13053-021-00207-9

Lior Haim Katz, Rachel Gingold-Belfer, Elez Vainer, Shani Hegger, Ido Laish, Estela Derazne, Ilana Weintraub, Gili Reznick-Levi, Yael Goldberg, Zohar Levi, Shlomi Cohen, Elizabeth E Half

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引用次数: 0

Abstract

Juvenile polyposis syndrome (JPS), has diverse phenotypes.

Aim: To assess mutation rate, clinical features and genotype-phenotype correlation among Israeli JPS kindreds from different ethnicities.

Methods: Patients' data were extracted retrospectively from 5 centers.

Results: Thirty five kindreds (49 patients) were included. Thirty one (89%) Jewish [10 (32%) Ashkenazi; 9 (29%) Sephardi; 11 (35%) non-Russia former Soviet-Union countries (NRFSU), one (3%) unknown]. 40/49 individuals from 27 families underwent genetic testing. Among them 34, from 21 families (85, 78%, respectively) had a pathogenic mutation: BMPR1A n = 15 (71%), SMAD4 n = 6 families (29%). While no SMAD4 mutation was described among Jewish families from NRFSU, 7 NRFSU families carried a founder mutation comprising a large genomic deletion of BMPR1A. GI involvement was reported in 42 patients (86%): colonic polyps (n = 40, 95%, > 50 polyps n = 14, 35%) and 12 underwent colonic resection. Fourteen patients (34%) had gastric or small bowel involvement (n = 5) and 4\14 underwent gastrectomy due to polyp burden. Families from NRFSU had more gastric involvement (66.7% vs. 22.2%- Sephardic and 20%- Ashkenazi Jews; p = 0.038), with more gastric polyps (p = 0.017).

Conclusions: We demonstrated a high rate of mutation detection in the heterogeneous population of Israel. Patients from NRFSU with BMPR1A mutation had high rate of gastric involvement.

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不同民族青少年息肉病综合征患者的表型多样性。

青少年息肉病综合征(JPS)具有多种表型。目的:探讨以色列不同民族JPS系的突变率、临床特征及基因型-表型相关性。方法:回顾性分析5个中心的患者资料。结果:纳入35种(49例)。31名(89%)犹太人[10名(32%)德系犹太人;9 (29%) Sephardi;11个(35%)非俄罗斯前苏联国家(NRFSU)， 1个(3%)未知]。来自27个家庭的40/49个体进行了基因检测。其中，来自21个家族的34例(85,78%)发生致病性突变:BMPR1A n = 15 (71%)， SMAD4 n = 6(29%)。虽然在来自NRFSU的犹太家庭中没有发现SMAD4突变，但有7个NRFSU家庭携带一个创始突变，包括BMPR1A的大基因组缺失。42例(86%)患者报告了胃肠道受累:结肠息肉(n = 40, 95%， > 50个息肉n = 14, 35%)， 12例行结肠切除术。14名患者(34%)有胃或小肠受累(n = 5)， 414名患者因息肉负担接受了胃切除术。来自NRFSU的家庭有更多的胃累及(66.7% vs. 22.2%-西班牙系犹太人和20%-德系犹太人;P = 0.038)，胃息肉发生率较高(P = 0.017)。结论:我们证明了在以色列异种人群中有很高的突变检出率。BMPR1A突变的NRFSU患者胃受累率高。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Hereditary Cancer in Clinical Practice 医学-肿瘤学

CiteScore

3.10

自引率

5.90%

发文量

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.