A case of myelofibrosis with a t(4;13)(q25;q12): evidence for involvement of a second 13q12 locus in chronic myeloproliferative disorders

Aberrations of 13q are frequently found in myeloproliferative disorders (MP D). In a case of primary proliferative polycythaemia which transformed to m yelofibrosis, karyotype analysis at transformation revealed an acquired t(4 :13)(q25;q12). FISH and Southern analysis demonstrated that the ZNF198 gene , disrupted in the t(8;13)(p11;q12) myeloproliferative syndrome, was unaffe cted by the t(4;13). FISH analysis mapped the 13q12 breakpoint to the genom ic region flanked by the genetic markers D13S1126 and D13S1121. Physical ma pping estimated this region to be <80 kbp. Our results suggest the possibil ity of a novel gene, distinct from ZNF198, that is located at chromosome 13 q12 and involved in the pathogenesis of myelofibrosis.