Hirschsprung disease and hepatoblastoma: case report of a rare association

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.

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes

“…He underwent a chemotherapy protocol with cisplatin, doxorubicin, and ifosfamide, followed by partial hepatectomy. Currently, the patient is in post treatment follow-up, and clinical details have been previously published ( Pinto et al, 2016 ).…”

Unraveling the genetic architecture of hepatoblastoma risk: birth defects and increased burden of germline damaging variants in gastrointestinal/renal cancer predisposition and DNA repair genes

“…He underwent a chemotherapy protocol with cisplatin, doxorubicin, and ifosfamide, followed by partial hepatectomy. Currently, the patient is in post treatment follow-up, and clinical details have been previously published [45].…”

Birth Defects and Childhood Cancer: A Shared Biological Pathway for Hirschsprung Disease and Hepatoblastoma Development?

“…Currently, the patient is in post-treatment follow-up. Further clinical details were published by Pinto et al (2016) 20 .…”

“…Non-genetic factors known to be associated with hepatoblastoma risk are mainly related to very low birth weight (<1500 g), including preterm birth (<33 weeks), small size for gestational age, and multiple birth pregnancies 9,19 . To date, there is a single report of a patient with hepatoblastoma and Hirschsprung disease 20 , which is a rare congenital anomaly resulting from the absence of enteric neurons at the end of the bowel, affecting about 1-5 in 10,000 newborns 21,22 . Related symptoms arise because there is no propulsive motility in the aganglionic bowel as a consequence of defective neural crest cell development, causing severe chronic constipation, abdominal distension, vomiting, and growth failure 22,23 .…”

“…In the course of genomic studies in a cohort of Brazilian individuals with childhood cancer, we ascertained one additional syndromic patient presenting Hirschsprung disease and hepatoblastoma, besides the first case reported by Pinto et al (2016) 20 . In this report, we performed a germline exome analysis of these two patients in whom the association of Hirschsprung disease and hepatoblastomas was documented, and of one parent of each patient.…”