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Hepatoblastoma in a patient with a partial trisomy 9p syndrome: a case report
J Marco Schnater1, Antoinette Y N Schouten-van Meeteren, Yvonne M Heins
1Pediatric Surgical Center of Amsterdam (Emma Children's Hospital AMC / Vrije Universiteit Medical Center), Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Abstract:
After an uneventful pregnancy, a boy was born by vacuum extraction at 40.6 weeks' gestation. Physical examination revealed several malformations due to a partial trisomy 9p [karyotype: 46,XY, dup(9)(p13p24)]. Three months after birth, the boy presented with a hepatoblastoma without distant metastases which was treated with chemotherapy combined with surgery. At the last follow-up, 15 years after the resection of the hepatoblastoma, he was still in complete remission. To our knowledge this is the first case report of a patient with a constitutional partial trisomy 9p associated with hepatoblastoma.