title: [IGHV mutational statue in patients with splenic marginal zone lymphoma].
abstract: Objective:To investigate the IGHV mutational status and its differences from Caucasian in splenic marginal zone lymphoma (SMZL).Methods:A retrospective study on 40 SMZL cases were performed to detect the V-D-J sequence of IGHV by plasmid cloning sequencing, comparing the data with the most homologous germ line V sequence in database, identifying the stereotype of patients through cluster analysis and alignment. The clinical and laboratory characteristics were compared between the patients with IGHV mutation and without mutations.Results:In SMZL patients, the proportion of IGHV mutations was 75%, consistent with data from Caucasian. In V region, the usage of V3-23 subtype was lower in Chinese patients compared with Caucasian (2.6%vs18.0%,P=0.006), whereas the V2-70 subtype was used with high proportion (10.3%vs0.8%,P=0.002). In D region, the D2-21 and D6-13 gene were used frequently (17.9%vs2.3%,P<0.001; 12.8%vs3.8%,P=0.046). One new stereotype was found, and the SMZL-biased V1-2 gene was mostly used (25.6%). The levels of IgG and IgA were significantly increased in IGHV without mutations as compared with mutations [10.70 (5.28-15.50) g/Lvs12.90 (7.71-23.50) g/L, 1.06 (0.21-3.13) g/Lvs1.66 (0.81-2.93) g/L,P=0.038, 0.040]. The only two 17p deletion patients were IGHV without mutaions. The progression free survival (PFS) was significantly prolonged in IGHV mutations (P=0.009), and there was no significant difference regarding to the overall survival between the two subgroups (P=0.430).Conclusion:The proportion of IGHV mutaions was similar to the data in Caucasian. There was disparity in the usage of V and D regions between Chinese and Caucasian, and the SMZL-biased V1-2 gene were used more frequently in Chinese patients. One new stereotype was identified. In the IGHV without mutations group, the levels of IgG and IgA were significantly increased.
authors.forename: W J
authors.initials: WJ
authors.lastname: Yang
authors.forename: Z
authors.initials: Z
authors.lastname: Yu
authors.forename: R
authors.initials: R
authors.lastname: Lyu
authors.forename: Z J
authors.initials: ZJ
authors.lastname: Li
authors.forename: H
authors.initials: H
authors.lastname: Li
authors.forename: W J
authors.initials: WJ
authors.lastname: Xiong
authors.forename: S H
authors.initials: SH
authors.lastname: Yi
authors.forename: W
authors.initials: W
authors.lastname: Liu
authors.affiliation: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Disease Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin 300020 , China.
authors.forename: L G
authors.initials: LG
authors.lastname: Qiu
mesh_terms: D002869:Chromosome Aberrations; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell; D018442:Lymphoma, B-Cell, Marginal Zone / Q000235:genetics*; D009154:Mutation; D011506:Proteins / Q000235:genetics*; D012189:Retrospective Studies; D013160:Splenic Neoplasms / Q000235:genetics*
chemical_list: C538838:IGIP protein, human; D011506:Proteins