Recurrent Childhood Malignant Liver Neoplasm

ABSTRACT CONTEXT: Hirschsprung disease is a developmental disorder of the enteric nervous system that is characterized by absence of ganglion cells in the distal intestine, and it occurs in approximately 1 in every 500,000 live births. Hepatoblastoma is a malignant liver neoplasm that usually occurs in children aged 6 months to 3 years, with a prevalence of 0.54 cases per 100,000. CASE REPORT: A boy diagnosed with intestinal atresia in the first week of life progressed to a diagnosis of comorbid Hirschsprung disease. Congenital cataracts and sensorineural deafness were diagnosed. A liver mass developed and was subsequently confirmed to be a hepatoblastoma, which was treated by means of surgical resection of 70% of the liver volume and neoadjuvant chemotherapy (ifosfamide, cisplatin and doxorubicin). CONCLUSION: It is known that Hirschsprung disease may be associated with syndromes predisposing towards cancer, and that hepatoblastoma may also be associated with certain congenital syndromes. However, co-occurrence of hepatoblastoma and Hirschsprung disease has not been previously described. We have reported a case of a male patient born with ileal atresia, Hirschsprung disease and bilateral congenital cataract who was later diagnosed with hepatoblastoma.

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Hepatoblastoma: current understanding, recent advances, and controversies

F1000Research ◽

10.12688/f1000research.12239.1 ◽

2018 ◽

Vol 7 ◽

pp. 53 ◽

Cited By ~ 18

Author(s):

Piotr Czauderna ◽

Hanna Garnier

Keyword(s):

Preoperative Chemotherapy ◽

Locally Advanced ◽

Prognostic Significance ◽

Surgical Techniques ◽

Liver Neoplasm ◽

Clinical Approach ◽

Beta Catenin ◽

Clinical Series ◽

Malignant Liver

Introduction: Hepatoblastoma (HB) is the most common primary malignant liver neoplasm in children. Its increasing survival rate is related to the progress in modern imaging, surgical techniques, and new chemotherapy regimens. Clinical approach: One of the past achievements was the development of the pretreatment extension of disease (PRETEXT) system. Gradually, the HB therapeutic approach has become more individualized with better stratification of patients. Controversies: These include the need for preoperative chemotherapy and its optimal duration; intensity of preoperative chemotherapy required for locally advanced cases (PRETEXT 4); optimal surgical treatment for locally advanced tumors: aggressive hepatic resections versus liver transplantation; the role of postoperative chemotherapy in the post-transplant setting; the timing and role of metastasectomy in patients with disseminated disease who undergo partial liver resection; and the prognostic significance of several HB pathology variants. Hepatoblastoma biology: Beta-catenin mutations and the beta-catenin/Wnt pathway play an important role in HB development. There have been at least two molecular signatures in HB published. Unluckily, all of these findings are based on relatively small clinical series and require confirmation. Conclusion: The treatment of HB started from one and the same therapy for all patients and aimed at increased treatment individualization, but the future seems to lie in biology-driven patient-tailored therapies.

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