Absence of somatic hypermutation of immunoglobulin heavy chain variable region genes in precursor B-lymphoblastic lymphoma: a study of four cases in childhood and adolescence.

Abstract	Somatic mutation (SM) analysis provides a useful tool for understanding the suitable stage of differentiation of normal and neoplastic B cells. B-cell precursor neoplasms are considered to be somatically premutational. However, no reports have been made on the sequence analysis of SM in rearranged immunoglobulin heavy chain variable region (VH) genes in precursor B-lymphoblastic lymphoma (PB-LBL); as for B-cell acute lymphoblastic leukemia (B-ALL), the variable frequency of SM of the VH genes has been described. To better distinguish PB-LBL from B-ALL based on the stage at which differentiation occurs, we analyzed the SM of the VH genes in 4 children and adolescents with PB-LBL. In all 4 cases, there was no SM in complementarity-determining regions 1, 2, and 3 and in framework regions 2 and 3 of the VH genes, except for 1 mutation in 1 of 2 polymerase chain reaction products from 1 patient. Our data showed the absence of SM of lymphoma cells in PB-LBL, in addition to the developmentally regulated rearrangement of VH genes at the stage of B-cell precursor cells. The lack of mutation in VH gene sequences suggests that SM may differ between PB-LBL and B-ALL.
Authors	H Hojo, Y Sasaki, N Nakamura, M Abe
Journal	American journal of clinical pathology (Am J Clin Pathol) Vol. 116 Issue 5 Pg. 673-82 (Nov 2001) ISSN: 0002-9173 [Print] England
PMID	11710683 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Biomarkers, Tumor DNA Primers DNA, Neoplasm Immunoglobulin Variable Region
Topics	Adolescent Base Sequence Biomarkers, Tumor (analysis) Blotting, Southern Child DNA Mutational Analysis DNA Primers (chemistry) DNA, Neoplasm (analysis) Female Genes, Immunoglobulin Humans Immunoglobulin Variable Region (genetics, metabolism) Immunohistochemistry Immunophenotyping Lymphoma, B-Cell (genetics, immunology, metabolism, pathology) Male Molecular Sequence Data Mutation Precancerous Conditions (genetics, immunology, metabolism, pathology) Precursor Cell Lymphoblastic Leukemia-Lymphoma (genetics, immunology, metabolism, pathology)

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