Chronic Lymphocytic Leukemia With t(2;14)(p16;q32) Involves the BCL11A and IgH Genes and Is Associated With Atypical Morphologic Features and Unmutated IgV(H) Genes

作者：Yin C Cameron^*; Lin Katherine I Chun; Ketterling Rhett P; Knudson Ryan A; Medeiros L Jeffrey; Barron Lynn L; Huh Yang O; Luthra Rajyalakshmi; Keating Michael J; Abtuzzo Lynne V

来源：American Journal of Clinical Pathology, 2009, 131(5): 663-670.

DOI：10.1309/AJCPXLY46UPFLISC

• Chronic lymphocytic leukemia/small lymphocytic lymphoma
• t(2
• 14) (p16
• q32)
• IgV(H) mutation
• BCL11A
• Atypical morphologic features

The t(2;14)(p16;q32) has been reported previously in only 12 cases of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL/SLL). The clinicopathologic features have been incompletely described. We describe 6 new cases of CLL/SLL with t(2;14)(p16;q32). All had marrow involvement, 4 had absolute lymphocytosis, 4 had lymphadenopathy, and 3 had hepatosplenomegaly. All showed atypical lymphocyte morphologic features with plasmacytoid differentiation and irregular nuclei; 3 had increased prolymphocytes. Flow cytometry demonstrated typical immunophenotypes in 5 and an atypical immunophenotype in 1. All expressed ZAP70; 5 assessed showed unmutated IgV(H) genes. Karyotyping identified t(2;14)(p16;q32) as the sole abnormality in 1, primary abnormality in 2, and part of a complex karotype in 3. Fluorescence in sitar hybridization analysis revealed BCL11A/IgH rearrangement in all. After chemotherapy, 3 patients died of disease and 3 were alive with disease (median follow-up, 80 months). We conclude that CLL/SLL with t(2;14) (p16;q32) and BCL11A/IgH rearrangement is characterized by atypical morphologic features and unmutated IgV(H) genes.

• 出版日期2009-5