Classification and Prognostic Stratification Based on Genomic Features in Myelodysplastic and Myeloproliferative Neoplasm- and Their Overlapping Conditions.
Jong-Mi Lee, Ginkyeng Lee, Taeksang Kim, Ari Ahn, Jin Jung, Yoo-Jin Kim, Silvia Park, Daehun Kwag, Sung-Eun Lee, Sung-Soo Park, Tong-Yoon Kim, Bin Cho, Nack-Gyun Chung, Jae Wook Lee, Jae Won Yoo, Suejung Jo, Yonggoo Kim, Myungshin Kim
{"title":"Classification and Prognostic Stratification Based on Genomic Features in Myelodysplastic and Myeloproliferative Neoplasm- and Their Overlapping Conditions.","authors":"Jong-Mi Lee, Ginkyeng Lee, Taeksang Kim, Ari Ahn, Jin Jung, Yoo-Jin Kim, Silvia Park, Daehun Kwag, Sung-Eun Lee, Sung-Soo Park, Tong-Yoon Kim, Bin Cho, Nack-Gyun Chung, Jae Wook Lee, Jae Won Yoo, Suejung Jo, Yonggoo Kim, Myungshin Kim","doi":"10.3390/cancers16234121","DOIUrl":null,"url":null,"abstract":"<p><p><b>Background/Objectives</b>: Myeloid neoplasms encompass a diverse group of disorders. In this study, we aimed to analyze the clinical and genomic data of patients with myeloproliferative neoplasm (MPN), myelodysplastic neoplasm (MDS), and their overlapping conditions, such as MDS/MPN and aplastic anemia (AA), to help redefine the disease classification. <b>Methods</b>: Clinico-genomic data of 1585 patients diagnosed with MPN (<i>n</i> = 715), MDS (<i>n</i> = 698), MDS/MPN (<i>n</i> = 78), and AA (<i>n</i> = 94) were collected. Patterns of 53 recurrent genomic abnormalities were compartmentalized into 10 groups using a Dirichlet process (DP). <b>Results:</b> These genomic groups were correlated with specific genomic features, survival outcomes, and disease subtypes. Groups DP1 and DP5, characterized by <i>JAK2</i> and <i>CALR</i> mutations, respectively, showed very favorable prognoses among the patients with MPN. Groups DP2, DP7, and DP9 demonstrated very adverse prognoses across the disease subtypes. DP2 included patients with MDS harboring <i>TP53</i> mutations and complex karyotypes; DP9 comprised patients with acute myeloid leukemia-related mutations, including <i>NPM1</i>; and DP7 included patients with <i>SETBP1</i> mutations. Groups DP10 and DP8, linked to <i>SF3B1</i> and <i>DDX41</i> mutations or chromosome 1q derivatives, presented a favorable risk profile. Improved survival was observed with transplantation in groups DP2, DP7, and DP9. <b>Conclusions</b>: These findings highlight the role of genomic classifications in guiding personalized treatment strategies, ultimately enhancing the understanding and management of myeloid neoplasms.</p>","PeriodicalId":9681,"journal":{"name":"Cancers","volume":"16 23","pages":""},"PeriodicalIF":4.5000,"publicationDate":"2024-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Cancers","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3390/cancers16234121","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"ONCOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Background/Objectives: Myeloid neoplasms encompass a diverse group of disorders. In this study, we aimed to analyze the clinical and genomic data of patients with myeloproliferative neoplasm (MPN), myelodysplastic neoplasm (MDS), and their overlapping conditions, such as MDS/MPN and aplastic anemia (AA), to help redefine the disease classification. Methods: Clinico-genomic data of 1585 patients diagnosed with MPN (n = 715), MDS (n = 698), MDS/MPN (n = 78), and AA (n = 94) were collected. Patterns of 53 recurrent genomic abnormalities were compartmentalized into 10 groups using a Dirichlet process (DP). Results: These genomic groups were correlated with specific genomic features, survival outcomes, and disease subtypes. Groups DP1 and DP5, characterized by JAK2 and CALR mutations, respectively, showed very favorable prognoses among the patients with MPN. Groups DP2, DP7, and DP9 demonstrated very adverse prognoses across the disease subtypes. DP2 included patients with MDS harboring TP53 mutations and complex karyotypes; DP9 comprised patients with acute myeloid leukemia-related mutations, including NPM1; and DP7 included patients with SETBP1 mutations. Groups DP10 and DP8, linked to SF3B1 and DDX41 mutations or chromosome 1q derivatives, presented a favorable risk profile. Improved survival was observed with transplantation in groups DP2, DP7, and DP9. Conclusions: These findings highlight the role of genomic classifications in guiding personalized treatment strategies, ultimately enhancing the understanding and management of myeloid neoplasms.
期刊介绍:
Cancers (ISSN 2072-6694) is an international, peer-reviewed open access journal on oncology. It publishes reviews, regular research papers and short communications. Our aim is to encourage scientists to publish their experimental and theoretical results in as much detail as possible. There is no restriction on the length of the papers. The full experimental details must be provided so that the results can be reproduced.