The Abnormal Karyotype Spectrum， Disease Correlation and Characteristics of High-frequency Gene Mutations in Patients with Lymphohematopoietic System Diseases
10.11714/jsysu.med.YX20260002
- VernacularTitle:淋巴造血系统疾病患者染色体核型异常谱、疾病关联性及高频基因突变的特征
- Author:
Feicheng YANG
1
;
Jie HU
2
;
Qing HU
1
;
Yanchun LI
1
;
Xiao LIU
1
;
Xiaming TAN
2
Author Information
1. Department of Pathology， Hunan Provincial People's Hospital ［the First Affiliated Hospital of Hunan Normal University］， Changsha 410001， China
2. Department of Pathology， Guilin People's Hospital， Guilin 541002， China
- Publication Type:Journal Article
- Keywords:
lymphoid hematopoietic system;
genetics;
chromosomal variation;
karyotype analysis;
tumor
- From:
Journal of Sun Yat-sen University(Medical Sciences)
2026;47(2):306-314
- CountryChina
- Language:Chinese
-
Abstract:
ObjectiveTo analyze the characteristics of chromosomal variations and disease spectrum in patients with lymphohematopoietic system diseases in Hunan region. MethodsA cross-sectional study was conducted， collecting clinical data of 548 patients with lymphohematopoietic system diseases who underwent bone marrow chromosome karyotype analysis at Hunan Provincial People's Hospital from January 2021 to July 2025. G-banding technique was used to detect bone marrow chromosome karyotypes， and chromosome number and structural abnormalities were determined in accordance with the International System for Human Cytogenomic Nomenclature （ISCN） 2024. Retrospective statistical analysis was performed to correlate karyotype abnormality data with disease phenotypes such as myelodysplastic syndrome and acute/chronic leukemia. Classification of the types， frequencies， and reproducibility of variations was calculated to clarify the correlation between karyotypes and disease phenotypes. ResultsAmong the 548 patients who completed bone marrow chromosome karyotype analysis， 127 had chromosomal abnormalities （84 males and 43 females， mean age 58.26 years）. Among patients with autosomal abnormalities， 64 cases were detected with translocations （a total of 67 mutations）， with t（9；22）（q34；q11.2） （22 cases） and t（15；17）（q24；q21） （10 cases） as high-frequency translocations. Chromosomes 9， 15， etc. were high-frequency variant chromosomes， and 29 cases had complex mutations such as deletions/duplications， with +8 being the common type. There were 27 cases of sex chromosome abnormalities： 7 cases of X chromosome abnormalities （2 cases of chimerism） and 20 cases of Y chromosome deletions （7 cases of 45，X，-Y/46，XY chimerism）. Karyotype-disease correlation showed that t（9；22） was detected 9 times in acute leukemia and 8 times in chronic myeloid leukemia； +8， -Y， etc. were associated with multiple types of hematological diseases， and the same karyotype could correspond to multiple disease phenotypes. ConclusionThe high-frequency chromosomal abnormalities， karyotype-disease correlations， and high-frequency NGS genes in patients with lymphohematopoietic system diseases， providing a basis for their precise diagnosis and treatment.
