Concordance for neuroblastoma in monozygotic twins: case report and review of the literature

The patients were infant male twins born by cesarean delivery following a healthy pregnancy at 36 weeks' gestation to unrelated parents. At 4 months of age, twin 2 presented with hepatomegaly and a right suprarenal mass. Resection of an adrenal tumor and a liver tumor biopsy were performed. Twin 1 had no symptoms at 4 months of age. Screening by abdominal ultrasonography showed multiple masses in the liver but no adrenal mass. Metaiodobenzylguanidine scintigraphy showed positive findings in multiple liver masses. A laparoscopic biopsy for a liver tumor was performed. All primary tumor and liver tumor specimens from twin 2 and the liver tumor of twin 1 had the same histologic classification of neuroblastoma and nearly identical genetic aberrations, including a chromosome gain or loss using array–comparative genomic hybridization. From these clinical and pathologic findings and genetic analyses, we strongly demonstrate the transplacental metastatic spread from twin 2 to twin 1. In the literature, 9 pairs of concordant twin neuroblastomas, including the current twin, have been presented; and the clinical findings of 5 twin pairs may represent placental metastases from one twin with congenital neuroblastoma to the other twin. This study is the first report presenting the possibility of twin-to-twin metastasis in monozygotic twins with neuroblastoma based on an analysis of the clinical features and genetic aberrations.