Ramón Garcia-Sanz , Marzia Varettoni , Cristina Jiménez , Simone Ferrero , Stephanie Poulain , Jesus F. San-Miguel , Maria L. Guerrera , Daniela Drandi , Tina Bagratuni , Mary McMaster , Aldo M. Roccaro , Damien Roos-Weil , Merav Leiba , Yong Li , Luigi Qiu , Jian Hou , C. Fernandez De Larrea , Jorge J. Castillo , M. Dimopoulos , R.G. Owen , Z.R. Hunter
{"title":"第11届Waldenström巨球蛋白血症国际研讨会共识小组3的报告:对Waldensteröm大球蛋白血症分子诊断的建议","authors":"Ramón Garcia-Sanz , Marzia Varettoni , Cristina Jiménez , Simone Ferrero , Stephanie Poulain , Jesus F. San-Miguel , Maria L. Guerrera , Daniela Drandi , Tina Bagratuni , Mary McMaster , Aldo M. Roccaro , Damien Roos-Weil , Merav Leiba , Yong Li , Luigi Qiu , Jian Hou , C. Fernandez De Larrea , Jorge J. Castillo , M. Dimopoulos , R.G. Owen , Z.R. Hunter","doi":"10.1053/j.seminhematol.2023.03.007","DOIUrl":null,"url":null,"abstract":"<div><p>Apart from the <em>MYD88</em><sup>L265P</sup> mutation, extensive information exists on the molecular mechanisms in Waldenström's Macroglobulinemia and its potential utility in the diagnosis and treatment tailoring. However, no consensus recommendations are yet available. Consensus Panel 3 (CP3) of the 11th International Workshop on Waldenström's Macroglobulinemia (IWWM-11) was tasked with reviewing the current molecular necessities and best way to access the minimum data required for a correct diagnosis and monitoring. Key recommendations from IWWM-11 CP3 included: (1) molecular studies are warranted for patients in whom therapy is going to be started; such studies should also be done in those whose bone marrow (BM) material is sampled based on clinical issues; (2) molecular studies considered essential for these situations are those that clarify the status of 6q and 17p chromosomes, and <em>MYD88, CXCR4</em>, and <em>TP53</em> genes. These tests in other situations, and/or other tests, are considered optional; (3) independently of the use of more sensitive and/or specific techniques, the minimum requirements are allele specific polymerase chain reaction for <em>MYD88</em><sup>L265P</sup> and <em>CXCR4</em><sup>S338X</sup> using whole BM, and fluorescence in situ hybridization for 6q and 17p and sequencing for <em>CXCR4</em> and <em>TP53</em> using CD19+ enriched BM; (4) these requirements refer to all patients; therefore, sample should be sent to specialized centers.</p></div>","PeriodicalId":21684,"journal":{"name":"Seminars in hematology","volume":null,"pages":null},"PeriodicalIF":5.0000,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"2","resultStr":"{\"title\":\"Report of Consensus Panel 3 from the 11th International workshop on Waldenström's Macroglobulinemia: Recommendations for molecular diagnosis in Waldenström's Macroglobulinemia\",\"authors\":\"Ramón Garcia-Sanz , Marzia Varettoni , Cristina Jiménez , Simone Ferrero , Stephanie Poulain , Jesus F. San-Miguel , Maria L. Guerrera , Daniela Drandi , Tina Bagratuni , Mary McMaster , Aldo M. Roccaro , Damien Roos-Weil , Merav Leiba , Yong Li , Luigi Qiu , Jian Hou , C. Fernandez De Larrea , Jorge J. Castillo , M. Dimopoulos , R.G. Owen , Z.R. Hunter\",\"doi\":\"10.1053/j.seminhematol.2023.03.007\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><p>Apart from the <em>MYD88</em><sup>L265P</sup> mutation, extensive information exists on the molecular mechanisms in Waldenström's Macroglobulinemia and its potential utility in the diagnosis and treatment tailoring. However, no consensus recommendations are yet available. Consensus Panel 3 (CP3) of the 11th International Workshop on Waldenström's Macroglobulinemia (IWWM-11) was tasked with reviewing the current molecular necessities and best way to access the minimum data required for a correct diagnosis and monitoring. Key recommendations from IWWM-11 CP3 included: (1) molecular studies are warranted for patients in whom therapy is going to be started; such studies should also be done in those whose bone marrow (BM) material is sampled based on clinical issues; (2) molecular studies considered essential for these situations are those that clarify the status of 6q and 17p chromosomes, and <em>MYD88, CXCR4</em>, and <em>TP53</em> genes. 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Report of Consensus Panel 3 from the 11th International workshop on Waldenström's Macroglobulinemia: Recommendations for molecular diagnosis in Waldenström's Macroglobulinemia
Apart from the MYD88L265P mutation, extensive information exists on the molecular mechanisms in Waldenström's Macroglobulinemia and its potential utility in the diagnosis and treatment tailoring. However, no consensus recommendations are yet available. Consensus Panel 3 (CP3) of the 11th International Workshop on Waldenström's Macroglobulinemia (IWWM-11) was tasked with reviewing the current molecular necessities and best way to access the minimum data required for a correct diagnosis and monitoring. Key recommendations from IWWM-11 CP3 included: (1) molecular studies are warranted for patients in whom therapy is going to be started; such studies should also be done in those whose bone marrow (BM) material is sampled based on clinical issues; (2) molecular studies considered essential for these situations are those that clarify the status of 6q and 17p chromosomes, and MYD88, CXCR4, and TP53 genes. These tests in other situations, and/or other tests, are considered optional; (3) independently of the use of more sensitive and/or specific techniques, the minimum requirements are allele specific polymerase chain reaction for MYD88L265P and CXCR4S338X using whole BM, and fluorescence in situ hybridization for 6q and 17p and sequencing for CXCR4 and TP53 using CD19+ enriched BM; (4) these requirements refer to all patients; therefore, sample should be sent to specialized centers.
期刊介绍:
Seminars in Hematology aims to present subjects of current importance in clinical hematology, including related areas of oncology, hematopathology, and blood banking. The journal''s unique issue structure allows for a multi-faceted overview of a single topic via a curated selection of review articles, while also offering a variety of articles that present dynamic and front-line material immediately influencing the field. Seminars in Hematology is devoted to making the important and current work accessible, comprehensible, and valuable to the practicing physician, young investigator, clinical practitioners, and internists/paediatricians with strong interests in blood diseases. Seminars in Hematology publishes original research, reviews, short communications and mini- reviews.