Case Analysis of MYH9-Related Disease with Non-Hodgkin Lymphoma Caused by Rare Mutations
- VernacularTitle:罕见突变引起MYH9相关性疾病合并非霍奇金淋巴瘤患者的家系分析
- Author:
Xue-Ting KONG
1
;
Dan-Yu WANG
1
;
Ze-Lin LIU
1
;
Zhao-Gui ZHOU
1
;
Nan ZHONG
1
;
Lei LIU
1
;
Meng-Di JIN
1
;
Hai-Yan CUI
1
Author Information
- Publication Type:Journal Article
- Keywords: MYH9; MYH9-RD; diffuse large B-cell lymphoma; thrombopoietin receptor agonists
- From: Journal of Experimental Hematology 2025;33(4):1145-1149
- CountryChina
- Language:Chinese
- Abstract: 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.
