{"title":"布卢姆综合征和视网膜母细胞瘤患者的种系中有两个 RB1 基因突变。","authors":"Martha Rangel-Charqueño, Cynthia Soto Flores, Mayra Martínez Sánchez Dra, Mariana Moctezuma-Dávila, Vanesa Olivares Illana Dra","doi":"10.1097/ICB.0000000000001691","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>To report the case of a patient with Bloom Syndrome and retinoblastoma from a genetic perspective. The patient exhibits two RB1 gene mutations in the germline.</p><p><strong>Methods: </strong>The patient underwent an ultrasound study, followed by enucleation of the left eye. Peripheral venous blood samples were collected to isolate mononuclear cells for total RNA and DNA extraction. Subsequently, cDNA synthesis and RT-qPCR were performed. The DNA was used for PCR amplification of the 27 exons. The sequence of the exons of RB1 was analysed.</p><p><strong>Results: </strong>The patient with Bloom Syndrome (BS) and retinoblastoma underwent treatment, and blood samples from the patient and a family member were analysed. The results revealed two germline mutations on exons 13 and 17. The levels of RB1 mRNA were found to be low compared to those of a healthy control and a family member.</p><p><strong>Conclusion: </strong>Without a family history of cancer, a patient with retinoblastoma and BS presents two mutations in the germline on the RB1 gene; this results in very low levels of RB1 mRNA systemically, thereby increasing the patient´s risk of developing another type of cancer throughout his life.</p>","PeriodicalId":53580,"journal":{"name":"Retinal Cases and Brief Reports","volume":" ","pages":""},"PeriodicalIF":0.0000,"publicationDate":"2024-11-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Bloom Syndrome and Retinoblastoma patient exhibits two RB1 gene mutations in the germline.\",\"authors\":\"Martha Rangel-Charqueño, Cynthia Soto Flores, Mayra Martínez Sánchez Dra, Mariana Moctezuma-Dávila, Vanesa Olivares Illana Dra\",\"doi\":\"10.1097/ICB.0000000000001691\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>To report the case of a patient with Bloom Syndrome and retinoblastoma from a genetic perspective. The patient exhibits two RB1 gene mutations in the germline.</p><p><strong>Methods: </strong>The patient underwent an ultrasound study, followed by enucleation of the left eye. Peripheral venous blood samples were collected to isolate mononuclear cells for total RNA and DNA extraction. Subsequently, cDNA synthesis and RT-qPCR were performed. The DNA was used for PCR amplification of the 27 exons. The sequence of the exons of RB1 was analysed.</p><p><strong>Results: </strong>The patient with Bloom Syndrome (BS) and retinoblastoma underwent treatment, and blood samples from the patient and a family member were analysed. The results revealed two germline mutations on exons 13 and 17. The levels of RB1 mRNA were found to be low compared to those of a healthy control and a family member.</p><p><strong>Conclusion: </strong>Without a family history of cancer, a patient with retinoblastoma and BS presents two mutations in the germline on the RB1 gene; this results in very low levels of RB1 mRNA systemically, thereby increasing the patient´s risk of developing another type of cancer throughout his life.</p>\",\"PeriodicalId\":53580,\"journal\":{\"name\":\"Retinal Cases and Brief Reports\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2024-11-08\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Retinal Cases and Brief Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1097/ICB.0000000000001691\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Retinal Cases and Brief Reports","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1097/ICB.0000000000001691","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"Medicine","Score":null,"Total":0}
The Bloom Syndrome and Retinoblastoma patient exhibits two RB1 gene mutations in the germline.
Purpose: To report the case of a patient with Bloom Syndrome and retinoblastoma from a genetic perspective. The patient exhibits two RB1 gene mutations in the germline.
Methods: The patient underwent an ultrasound study, followed by enucleation of the left eye. Peripheral venous blood samples were collected to isolate mononuclear cells for total RNA and DNA extraction. Subsequently, cDNA synthesis and RT-qPCR were performed. The DNA was used for PCR amplification of the 27 exons. The sequence of the exons of RB1 was analysed.
Results: The patient with Bloom Syndrome (BS) and retinoblastoma underwent treatment, and blood samples from the patient and a family member were analysed. The results revealed two germline mutations on exons 13 and 17. The levels of RB1 mRNA were found to be low compared to those of a healthy control and a family member.
Conclusion: Without a family history of cancer, a patient with retinoblastoma and BS presents two mutations in the germline on the RB1 gene; this results in very low levels of RB1 mRNA systemically, thereby increasing the patient´s risk of developing another type of cancer throughout his life.
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