Xue-Ting Kong, Dan-Yu Wang, Ze-Lin Liu, Zhao-Gui Zhou, Nan Zhong, Lei Liu, Meng-Di Jin, Hai-Yan Cui
{"title":"【罕见突变引起的MYH9相关疾病合并非霍奇金淋巴瘤病例分析】。","authors":"Xue-Ting Kong, Dan-Yu Wang, Ze-Lin Liu, Zhao-Gui Zhou, Nan Zhong, Lei Liu, Meng-Di Jin, Hai-Yan Cui","doi":"10.19746/j.cnki.issn.1009-2137.2025.04.032","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>To analyze the <i>MYH9</i> gene sequence of a patient with hereditary thrombocytopenia and diffuse large B-cell lymphoma and his family members, and to explore the relationship between <i>MYH9</i> gene and tumors.</p><p><strong>Methods: </strong>Peripheral blood samples were collected from the patients and their family members for complete blood count analysis. The platelet morphology was observed under microscope. The <i>MYH9</i> gene sequence was analyzed by Whole Exon Sequencing and Sanger Sequencing.</p><p><strong>Results: </strong>The mutation site c.279C>A:p.(Asn93Lys) in exon 2 of the <i>MYH9</i> gene were found in patient and his family members, both presenting as thrombocytopenia. The platelet count was significantly increased after the administration of Avatrombopag.</p><p><strong>Conclusion: </strong>A novel mutation of <i>MYH9</i> was found in this study, and the case was sensitive to Avatrombopag, by exploring the relationship between the <i>MYH9</i> gene and tumors, suggesting that the <i>MYH9</i> gene may be associated with the development of diffuse large B-cell lymphoma.</p>","PeriodicalId":35777,"journal":{"name":"中国实验血液学杂志","volume":"33 4","pages":"1145-1149"},"PeriodicalIF":0.0000,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Case Analysis of <i>MYH9</i> Related Disease with Non-Hodgkin Lymphoma Caused by Rare Mutations].\",\"authors\":\"Xue-Ting Kong, Dan-Yu Wang, Ze-Lin Liu, Zhao-Gui Zhou, Nan Zhong, Lei Liu, Meng-Di Jin, Hai-Yan Cui\",\"doi\":\"10.19746/j.cnki.issn.1009-2137.2025.04.032\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>To analyze the <i>MYH9</i> gene sequence of a patient with hereditary thrombocytopenia and diffuse large B-cell lymphoma and his family members, and to explore the relationship between <i>MYH9</i> gene and tumors.</p><p><strong>Methods: </strong>Peripheral blood samples were collected from the patients and their family members for complete blood count analysis. The platelet morphology was observed under microscope. The <i>MYH9</i> gene sequence was analyzed by Whole Exon Sequencing and Sanger Sequencing.</p><p><strong>Results: </strong>The mutation site c.279C>A:p.(Asn93Lys) in exon 2 of the <i>MYH9</i> gene were found in patient and his family members, both presenting as thrombocytopenia. The platelet count was significantly increased after the administration of Avatrombopag.</p><p><strong>Conclusion: </strong>A novel mutation of <i>MYH9</i> was found in this study, and the case was sensitive to Avatrombopag, by exploring the relationship between the <i>MYH9</i> gene and tumors, suggesting that the <i>MYH9</i> gene may be associated with the development of diffuse large B-cell lymphoma.</p>\",\"PeriodicalId\":35777,\"journal\":{\"name\":\"中国实验血液学杂志\",\"volume\":\"33 4\",\"pages\":\"1145-1149\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-08-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"中国实验血液学杂志\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.04.032\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"中国实验血液学杂志","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.19746/j.cnki.issn.1009-2137.2025.04.032","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
[Case Analysis of MYH9 Related Disease with Non-Hodgkin Lymphoma Caused by Rare Mutations].
Objective: To analyze the MYH9 gene sequence of a patient with hereditary thrombocytopenia and diffuse large B-cell lymphoma and his family members, and to explore the relationship between MYH9 gene and tumors.
Methods: Peripheral blood samples were collected from the patients and their family members for complete blood count analysis. The platelet morphology was observed under microscope. The MYH9 gene sequence was analyzed by Whole Exon Sequencing and Sanger Sequencing.
Results: The mutation site c.279C>A:p.(Asn93Lys) in exon 2 of the MYH9 gene were found in patient and his family members, both presenting as thrombocytopenia. The platelet count was significantly increased after the administration of Avatrombopag.
Conclusion: A novel mutation of MYH9 was found in this study, and the case was sensitive to Avatrombopag, by exploring the relationship between the MYH9 gene and tumors, suggesting that the MYH9 gene may be associated with the development of diffuse large B-cell lymphoma.
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