A case of adult T cell leukemia and lymphoma in an Italian woman showing different malignant clones in tumor mass and in blood

Abstract

HTLV-1 infections and their associated diseases are very rare in Italy, as well as in most parts of Europe, occurring prevalently in subjects related to endemic areas. The HTLV-1-associated leukemia/lymphoma, ATLL, is a very aggressive T-cell non-Hodgkin's lymphoma which can be difficult to recognize in non-endemic areas. Here we describe the case of an elderly Italian woman, with no apparent risk factors, affected by a rapidly fatal ATLL who presented with an abdominal lymphomatous mass and circulating leukemic cells. The simultaneous presence of different T-cell clones in the tumor mass and in the blood was demonstrated by T-cell receptor gene rearrangement analysis and HTLV-1 integration pattern studies. After surgery, all the T-cell clones were present in the blood, indicating that tumor cells had spread from the mass. Phylogenetic analysis, using the complete LTR sequence, showed that the patient's HTLV-1 isolate belongs to the cosmopolitan subtype A.