Familial neuroblastoma: report of a kindred with later age at diagnosis.
OBJECTIVE
To describe the clinical and biologic features of neuroblastoma (NB) in two siblings and their maternal second cousin.


METHODS
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.


RESULTS
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.


CONCLUSIONS
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.
Lemire
E G
EG
Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
Chodirker
B N
BN
Williams
G J
GJ
Seargeant
L E
LE
Israels
S J
SJ
Phillips
S M
SM
de Nanassy
J A
JA
Maris
J M
JM
Yanofsky
R A
RA
D017668:Age of Onset; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D005260:Female; D016259:Genes, myc; D005819:Genetic Markers; D006801:Humans; D008297:Male; D009447:Neuroblastoma / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000503:physiopathology; D010375:Pedigree
D005819:Genetic Markers