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Association of trisomy 18 with hepatoblastoma and its implications

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Abstract

Hepatoblastoma is a highly malignant embryonal liver tumor that occurs almost exclusively in infants and toddlers. Trisomy 18 is the second most common autosomal trisomy after trisomy 21 and is generally considered a lethal disorder. Ten cases of hepatoblastoma in children with trisomy 18 have been published to date. Here, we report on two female patients with trisomy 18 and pretreatment extent of disease (PRETEXT) stage 1 hepatoblastoma, which support the presence of a nonrandom association between hepatoblastoma and trisomy 18. Both patients underwent primary surgical resection without any neoadjuvant or adjuvant chemotherapy. The histologies returned as pure fetal epithelial type, and combined fetal and embryonal epithelial type. There was no evidence of recurrence on serial abdominal ultrasound and serum alpha-fetoprotein levels on follow-up. Conclusion: Primary surgical resection is a treatment approach that can be considered in children with trisomy 18 and PRETEXT stage 1 tumor. However, in view of the overall prognosis for trisomy 18, the decision on the optimal treatment is a delicate one and has to be individualized in the context of the best interests of the child.

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Abbreviations

AFP:

Alpha-fetoprotein

ASD:

Atrial septal defect

BWS:

Beckwith–Wiedemann syndrome

COG:

Children’s oncology group

CT:

Computed tomography

IHH:

Isolated hemihyperplasia

PDA:

Patent ductus arteriosus

PRETEXT:

Pretreatment extent of disease

VSD:

Ventricular septal defect

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Conflict of interest

The authors declare that they have no financial relationships or conflict of interest.

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Authors and Affiliations

  1. Department of Pediatric Medicine, KK Women’s and Children’s, Hospital, 100 Bukit Timah Road, Singapore, 229899, Singapore

    Zhen Han Tan

  2. Genetics Service, Department of Pediatric Medicine, KK Women’s and Children’s Hospital, Singapore, Singapore

    Angeline Lai

  3. Cardiology Service, Department of Pediatric Subspecialties, KK Women’s and Children’s Hospital, Singapore, Singapore

    Ching Kit Chen

  4. Department of Pathology and Laboratory Medicine, KK Women’s and Children’s Hospital, Singapore, Singapore

    Kenneth T. E. Chang

  5. Hematology Oncology Service, Department of Pediatric Subspecialties, KK Women’s and Children’s Hospital, Singapore, Singapore

    Ah Moy Tan

Authors
  1. Zhen Han Tan
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  2. Angeline Lai
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  3. Ching Kit Chen
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  4. Kenneth T. E. Chang
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  5. Ah Moy Tan
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Correspondence to Zhen Han Tan.

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Tan, Z.H., Lai, A., Chen, C.K. et al. Association of trisomy 18 with hepatoblastoma and its implications. Eur J Pediatr 173, 1595–1598 (2014). https://doi.org/10.1007/s00431-013-2147-8

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  • DOI: https://doi.org/10.1007/s00431-013-2147-8

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