Second malignant neoplasms in childhood acute lymphoblastic leukemia: Primitive neuroectodermal tumor of the chest wall with germline p53 mutation as a second malignant neoplasm

About 80% of children treated for acute lymphoblastic leukemia (ALL) will be long‐term survivors. Second malignant neoplasm (SMNs) are a devastating sequelae observed on these children, with an estimated cumulative risk of 2–3.3% fifteen years after diagnosis. Primitive neuroectodermal tumor of bone (PNET) is rarely observed as a SMN following treatment of childhood ALL. The authors described the occurrence of a chest wall PNET of the bone at the site of a central line placement associated with both germ‐line and tumor cell p53 mutation in a 8‐year‐old boy 1 year after completing therapy for standard risk ALL. A review of the literature of 25,051 children treated for ALL discovered 230 SMNs (0.99%), and only one case of PNET of the bone was noted among this group. The occurrence of a SMN in children treated for ALL is a rare event. Such an occurrence, in particular the development of an unusual SMN, should be evaluated for a germline p53 mutation. Am. J. Hematol. 76:52–56, 2004. © 2004 Wiley‐Liss, Inc.