Constitutional t(3;11)(p21;q23) in a family, including one member with lymphoma: Establishment of novel cell lines with this translocation

We describe a family with an inherited constitutional chromosome translocat ion (3;11) (p21;q23). Of three proven translocation carriers, one had duode nal malignant lymphoma(B-cell diffuse lymphoma, medium-sized cell type). Th e t(3;11)(p21;q23) was detected not only in hematopoietic cells including t he patient's lymphoma cells, non-pathological bone marrow, and phytohemaggl utinin-stimulated peripheral blood, but also in fibroblasts of the skin. We have successfully established an Epstein-Barr virus-transformed B-cell lin e and a Herpesvirus saimiri-transformed T-cell line from the patient, and f ound that both cell lines also carried this translocation. The patient's as ymptomatic mother and sister had the same chromosomal abnormality. Chromoso mal abnormalities of the 11q23 bond occur frequently in various hematopoiet ic malignant disorders, and 3p21 has been linked to the pathogenesis of sev eral solid tumors including carcinomas of the kidney, lung, and breast. Alt hough 11q23 is known to recombine with many different chromosomal segments, t(3;11)(p21;q23) has not been reported to our knowledge. Further assessmen t is warranted to clarify if this constitutional translocation predisposes to certain malignancies. Our cell lines carrying the novel chromosome trans location would be useful for the molecular analysis of the rearranged genes involving both 3p21 and 11q23. (C) Elsevier Science Inc., 2000. All rights reserved.