Josep Gumà, Karla Beatríz Peña, Francesc Riu, Clara Lucia-Gozálvez, Ana Vidaller, Vanesa Maldonado, David Parada
{"title":"晚期甲状腺髓样癌的血液活检:转染异质性中重排的一例研究。","authors":"Josep Gumà, Karla Beatríz Peña, Francesc Riu, Clara Lucia-Gozálvez, Ana Vidaller, Vanesa Maldonado, David Parada","doi":"10.1159/000527184","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Liquid biopsy is an innovative and efficient method for studying circulating tumor DNA. In conjunction with innovative techniques such as next-generation sequencing, it can provide real-time information on prognostic and predictive factors.</p><p><strong>Case presentation: </strong>We report a case of advanced, unresectable medullary thyroid carcinoma with various rearranged during transfection (RET) and Kirsten rat sarcoma viral (KRAS) mutations in both blood liquid and tissue biopsies. After the initial failure of treatment with a tyrosine kinase inhibitor (TKI), a liquid biopsy analyzed by next-generation sequencing showed the presence of six different RET mutations and KRAS. Tissue biopsy also revealed two RET mutations. Due to these biopsy findings, the treatment was changed to another TKI, and the patient is now clinically stable.</p><p><strong>Discussion/conclusion: </strong>Liquid biopsy makes it possible to analyze different genetic alterations that may have implications as predictive factors. It also reveals tumor heterogeneity and its implications for prognostic factors.</p>","PeriodicalId":19805,"journal":{"name":"Pathobiology","volume":null,"pages":null},"PeriodicalIF":3.5000,"publicationDate":"2023-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Blood Liquid Biopsy in an Advanced Medullary Thyroid Carcinoma: A Case Study with Rearranged during Transfection Heterogeneity.\",\"authors\":\"Josep Gumà, Karla Beatríz Peña, Francesc Riu, Clara Lucia-Gozálvez, Ana Vidaller, Vanesa Maldonado, David Parada\",\"doi\":\"10.1159/000527184\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Liquid biopsy is an innovative and efficient method for studying circulating tumor DNA. In conjunction with innovative techniques such as next-generation sequencing, it can provide real-time information on prognostic and predictive factors.</p><p><strong>Case presentation: </strong>We report a case of advanced, unresectable medullary thyroid carcinoma with various rearranged during transfection (RET) and Kirsten rat sarcoma viral (KRAS) mutations in both blood liquid and tissue biopsies. After the initial failure of treatment with a tyrosine kinase inhibitor (TKI), a liquid biopsy analyzed by next-generation sequencing showed the presence of six different RET mutations and KRAS. Tissue biopsy also revealed two RET mutations. Due to these biopsy findings, the treatment was changed to another TKI, and the patient is now clinically stable.</p><p><strong>Discussion/conclusion: </strong>Liquid biopsy makes it possible to analyze different genetic alterations that may have implications as predictive factors. It also reveals tumor heterogeneity and its implications for prognostic factors.</p>\",\"PeriodicalId\":19805,\"journal\":{\"name\":\"Pathobiology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":3.5000,\"publicationDate\":\"2023-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"2\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Pathobiology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1159/000527184\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"CELL BIOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Pathobiology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000527184","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CELL BIOLOGY","Score":null,"Total":0}
Blood Liquid Biopsy in an Advanced Medullary Thyroid Carcinoma: A Case Study with Rearranged during Transfection Heterogeneity.
Introduction: Liquid biopsy is an innovative and efficient method for studying circulating tumor DNA. In conjunction with innovative techniques such as next-generation sequencing, it can provide real-time information on prognostic and predictive factors.
Case presentation: We report a case of advanced, unresectable medullary thyroid carcinoma with various rearranged during transfection (RET) and Kirsten rat sarcoma viral (KRAS) mutations in both blood liquid and tissue biopsies. After the initial failure of treatment with a tyrosine kinase inhibitor (TKI), a liquid biopsy analyzed by next-generation sequencing showed the presence of six different RET mutations and KRAS. Tissue biopsy also revealed two RET mutations. Due to these biopsy findings, the treatment was changed to another TKI, and the patient is now clinically stable.
Discussion/conclusion: Liquid biopsy makes it possible to analyze different genetic alterations that may have implications as predictive factors. It also reveals tumor heterogeneity and its implications for prognostic factors.
期刊介绍：
''Pathobiology'' offers a valuable platform for the publication of high-quality original research into the mechanisms underlying human disease. Aiming to serve as a bridge between basic biomedical research and clinical medicine, the journal welcomes articles from scientific areas such as pathology, oncology, anatomy, virology, internal medicine, surgery, cell and molecular biology, and immunology. Published bimonthly, ''Pathobiology'' features original research papers and reviews on translational research. The journal offers the possibility to publish proceedings of meetings dedicated to one particular topic.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
