title: Hepatoblastoma in a 15-month-old female with trisomy 13.
abstract: Trisomy 13 (T13) is a rare autosomal aneuploidy. Greater than 90% of patients die during the first year of life. Malignancies reported in association with T13 include two cases of Wilms tumor and one case of pilocytic astrocytoma. There is no previous report of hepatoblastoma in patients with T13. We report a unique case of hepatoblastoma in a 15-month-old female with constitutional T13. Our patient was born at 38 weeks gestation and was noted to have phenotypic features consistent with T13. Genetic testing confirmed an abnormal karyotype of 47,XX,+13 in all cells. At fifteen months of age she was noted to have a right hepatic lobe mass on a routine follow-up renal ultrasound for hydronephrosis. Serum alpha-fetoprotein level was 55,300 ng/ml. Staging work-up revealed the absence of metastases. She underwent a complete surgical resection with right hepatic lobectomy. Histopathology was consistent with hepatoblastoma, mixed epithelial and mesenchymal type. She had a protracted postoperative course complicated by Enterobacter aerogenes urosepsis, a significant biloma, chronic pancreatitis, and apneic episodes of uncertain etiology. She received four courses of doxorubicin monotherapy without any severe or unexpected toxicity. She continues to be in remission 8 months following diagnosis. This is the first reported case of hepatoblastoma in a child with constitutional T13. This may represent a non-random association, as somatic trisomy of chromosome 13 in hepatoblastoma tumors has been previously described in the literature. Prolonged survival may have allowed for hepatoblastoma to present in our patient.
authors: Division of Hematology and Oncology, Children's Hospital Los Angeles, Los Angeles, California.
authors: Rachana
authors: R
authors: Shah
authors: Hung Chi
authors: HC
authors: Tran
authors: Linda
authors: L
authors: Randolph
authors: Leo
authors: L
authors: Mascarenhas
authors: Rajkumar
authors: R
authors: Venkatramani
mesh_terms: D025063:Chromosome Disorders / Q000150:complications* / Q000175:diagnosis; D002882:Chromosomes, Human, Pair 13; D005260:Female; D006498:Hepatectomy; D018197:Hepatoblastoma / Q000175:diagnosis / Q000188:drug therapy / Q000209:etiology* / Q000601:surgery; D006801:Humans; D007223:Infant; D008099:Liver / Q000473:pathology; D008113:Liver Neoplasms / Q000175:diagnosis / Q000209:etiology; D014057:Tomography, X-Ray Computed; D016896:Treatment Outcome; D014314:Trisomy / Q000175:diagnosis; D000073839:Trisomy 13 Syndrome; D000509:alpha-Fetoproteins / Q000378:metabolism
chemical_list: D000509:alpha-Fetoproteins
keywords: chromosome 13; hepatoblastoma; hepatoblastoma/genetics; liver neoplasms/genetics; patau syndrome; trisomy; trisomy 13