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Most immunoglobulin heavy chain switch mu rearrangements in B‐cell chronic lymphocytic leukemia are internal deletions
Author(s) -
Nardini Elena,
Rizzi Simona,
Capello Daniela,
Vitolo Umberto,
Gaidano Gianluca,
Menard Sylvie,
Balsari Andrea
Publication year - 2002
Publication title -
febs letters
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.593
H-Index - 257
eISSN - 1873-3468
pISSN - 0014-5793
DOI - 10.1016/s0014-5793(02)02672-8
Subject(s) - isotype , chronic lymphocytic leukemia , biology , microbiology and biotechnology , southern blot , immunoglobulin class switching , chromosomal translocation , immunoglobulin heavy chain , gene rearrangement , immunoglobulin light chain , genetics , polymerase chain reaction , antibody , allele , b cell , leukemia , gene , monoclonal antibody
We investigated 38 cases of B‐cell chronic lymphocytic leukemia (B‐CLL) for the presence of non‐productive rearrangements in the Sμ regions and defined for the first time the molecular nature of these rearrangements. Southern blot analysis revealed Sμ region rearrangements in 13 cases (34%) and polymerase chain reactions (PCRs) indicated that these rearrangements consisted of internal deletions of the Sμ region. Long‐distance PCRs localized the Sμ deletions in the V H DJ H rearranged allele in most cases. We investigated if Sμ deletions were related to V H somatic mutations that, together with isotype switch recombination, are indicative of the B‐cell maturation stage. No significant correlation between the presence of Sμ deletions and V H somatic mutations was found, indicating that the two processes are independent in B‐CLL. Moreover no significant correlation between Sμ deletions and prognosis was observed. Having shown that Sμ internal deletions are not chromosome translocations rules out their involvement in the onset of malignancy, while their localization in the V H DJ H rearranged alleles suggests a possible role in the stabilization of the isotype of the expressed immunoglobulin.