Lemire E G, Chodirker B N, Williams G J, Seargeant L E, Israels S J, Phillips S M, de Nanassy J A, Maris J M, Yanofsky R A
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
J Pediatr Hematol Oncol. 1998 Sep-Oct;20(5):489-93. doi: 10.1097/00043426-199809000-00017.
To describe the clinical and biologic features of neuroblastoma (NB) in two siblings and their maternal second cousin.
NB was diagnosed in the siblings at 2 1/2 (patient 2) and 5 (patient 3) years of age. NB was diagnosed in their maternal second cousin (patient 1) when she was 7 years old. Standard clinical and biological data, tumor karyotype, and tumor allelotype at select loci were obtained.
Patient 1 had International Neuroblastoma Staging System (INSS) stage 4 NB and unfavorable histology but no evidence of MYCN amplification; she died from complications of autologous bone marrow transplantation in second remission. Patient 2 had INSS stage 4 NB with unfavorable histology but no MYCN amplification; her disease recurred 39 months after completing therapy. Patient 3 had INSS stage 1 NB with favorable biologic features; he was treated with surgical excision and remains free of disease.
Familial NB may occur at a later age than predicted by the tumor suppressor gene model of inherited cancer. This report further emphasizes the clinical and biological heterogeneity of familial NB.
