CASE DESCRIPTION:
We describe the case of an 11-month-old female diagnosed with trisomy 18
and hepatoblastoma. She was born at 37 weeks gestation via cesarean
section due to concern for placental insufficiency and intrauterine
growth restriction. In the neonatal intensive care unit (ICU), she was
found to have persistent pulmonary hypertension, a small ventricular
septal defect, a moderate atrial septal defect, pulmonic stenosis and a
large patent ductus arteriosus. She was also found to have congenital
hydronephrosis with duplicated collecting system and imperforate anus
with rectovaginal fistulae. An underlying genetic condition was strongly
suspected and the diagnosis of trisomy 18 was confirmed by fluorescence
in situ hybridization.
At 8 months of age she was hospitalized for two months in India and
England, requiring ICU level of care for bacteremia, sepsis, and
respiratory failure. Given recurrence of feeding difficulties in the
context of prolonged hospitalization and multiple intubations, multiple
abdominal ultrasounds (US) were performed. Her third abdominal US
revealed a liver mass that measured 3.7cm x 3.6cm x 3.3cm. Parents were
told that based on imaging, this lesion was most likely benign,
specifically a hemangioma. Computed tomography (CT) and serum
α-fetoprotein level (AFP) were recommended but given severity of
illness, further evaluation was deferred.
Three months later, upon family’s return to the United States, a repeat
US was performed which demonstrated a prominent mass concerning for
malignancy that replaced the majority of the left lower liver measuring
8.9cm x 4.5cm x 6.1cm. CT guided biopsy of the liver mass was performed
re-demonstrating a large, exophytic hypervascular mass in the left lobe
of the liver. CT chest was without distant metastatic disease. Given
proximity to the middle hepatic vein, surgical resection was not
possible at time of diagnosis. Pathology was consistent with pure fetal
histology hepatoblastoma. Despite favorable pathology, given
unresectable tumor, patient was diagnosed with Stage III, intermediate
risk disease. AFP at diagnosis was 17,657 ng/mL (Figure 1).
The patient completed neo-adjuvant chemotherapy as per the Children’s
Oncology Group (COG) protocol AHEP0731 (Stratum 3, Regimen F) for two
cycles using cisplatin, fluorouracil, and vincristine. After
consultation with the cardiology team, doxorubicin was omitted from her
treatment given her underlying cardiac abnormalities. The patient
successfully underwent a left lateral hepatic sectionectomy with clean
margins after two cycles of chemotherapy. After surgical resection, she
received one adjuvant cycle of chemotherapy as per AHEP0731. After
discussion with family, given clear surgical margins and baseline
clinical fragility opted to discontinue chemotherapy after cycle 3. At
her visit 3 months from the end of therapy, patient continues to do well
with normal AFP level and CT chest and magnetic resonance imaging of
abdomen/pelvis are without evidence of recurrent, residual or metastatic
disease (Figure 1).