Morphological, immunophenotypic, and genetic features of chronic lymphocytic leukemia with trisomy 12: a comprehensive review

被引:28
作者
Autore, Francesco [1 ]
Strati, Paolo [2 ]
Laurenti, Luca [1 ]
Ferrajoli, Alessandra [2 ]
机构
[1] Univ Cattolica Sacro Cuore, Fdn Policlin A Gemelli, Hematol Inst, Rome, Italy
[2] Univ Texas MD Anderson Canc Ctr, Dept Leukemia, Houston, TX 77030 USA
关键词
MULTIVARIATE SURVIVAL ANALYSIS; MOLECULAR CYTOGENETIC ANALYSIS; VARIABLE-REGION MUTATIONS; IN-SITU HYBRIDIZATION; B-CELL RECEPTOR; NOTCH1; MUTATIONS; CD38; EXPRESSION; CLINICAL CORRELATIONS; ATYPICAL MORPHOLOGY; LYMPHOPROLIFERATIVE DISORDERS;
D O I
10.3324/haematol.2017.186684
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Chronic lymphocytic leukemia is an extremely heterogeneous disease and prognostic factors such as chromosomal abnormalities are important predictors of time to first treatment and survival. Trisomy 12 is the second most frequent aberration detected by fluorescence in situ hybridization at the time of diagnosis (10-25%), and it confers an intermediate prognostic risk, with a median time to first treatment of 33 months and a median overall survival of 114 months. Here, we review the unique morphological, immunophenotypic, and genetic characteristics of patients with chronic lymphocytic leukemia and trisomy 12. These patients carry a significantly higher expression of CD19, CD22, CD20, CD79b, CD24, CD27, CD38, CD49d, sIgM, sIgk, and sIg lambda and lower expression of CD43 compared with patients with normal karyotype. Circulating cells show increased expression of the integrins CD11b, CD18, CD29, and ITGB7, and of the adhesion molecule CD323. Patients with chronic lymphocytic leukemia and trisomy 12 frequently have unmutated IGHV, ZAP-70 positivity, and closely homologous stereotyped B-cell receptors. They rarely show TP53 mutations but frequently have NOTCH1 mutations, which can be identified in up to 40% of those with a rapidly progressive clinical course.
引用
收藏
页码:931 / 938
页数:8
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