Coexistence of lymphoblastic and monoblastic populations with identical mixed lineage leukemia gene rearrangements and shared immunoglobulin heavy chain rearrangements in leukemia developed in utero.

Congenital leukemia often provides insight into mechanisms of in utero leukemogenesis. A 10-day-old boy with clinical features of skin nodules, marked hepatosplenomegaly, and subcutaneous bleeding received a diagnosis of congenital leukemia. This patient initially had a dominant B progenitor lymphoblast population and minor monocyte component. Treatment with prednisolone, vincristine, and doxorubicin resulted in a loss of lymphoblast population and a rapid increase and dominance of the monocyte component within 10 days. Complete remission initially was obtained with additional combination chemotherapy with epipodophyllotoxin (VP-16) and cytosine arabinoside (Ara-C), but relapse characterized by a lymphoblastic population in the bone marrow was subsequently observed. The authors hypothesize that the leukemic cells originated from a common B-monocyte lineage stem cell during fetal hematopoiesis.