Screening for mutations of Bcl10 in leukaemia

The Bcl10 gene was identified through characterization of the t(1;14)(p22;q 32) associated with mucosa-associated lymphoid tissue (MALT) lymphoma. Bcl1 0 is implicated in the regulation of apoptosis and has been reported to be mutated in other subtypes of non-Hodgkin's B-cell lymphoma (B-NHL) and leuk aemic cell lines, raising the possibility that its deregulation could be im plicated in other forms of haematological malignancy, We screened 226 cases , including 123 acute myeloid leukaemia (AML), 50 acute lymphoblast ic leuk aemia (ALL), 20 chronic myeloid leukaemia (CML), 10 chronic lymphocytic leu kaemia-prolymphocytic leukaemia (CLL/PLL) and 23 cases with 1p abnormalitie s, for Bcl10 mutations by reverse transcription polymerase chain reaction-s ingle-stranded conformation, polymorphism (RT-PCR/SSCP), Three known polymo rphisms and two common splice variants were identified; however, no mutatio ns were detected, One splice variant led to a 33-bp in frame deletion, wher eas the other caused a 16-bp deletion predicting C-terminal truncation of B cl10, However, both splice variants were also detected in normal bone marro w, suggesting that they are unlikely to be of pathogenetic significance. Fu rthermore, Southern blot analysis revealed no rearrangements of Bcl10 among 16 ALL and 11 cases of haematological malignancy with Ip abnormalities. Ou r results suggest that mutation of the Bcl10 gene as a mechanism of tumorig enesis is not associated with leukaemia.