Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case report
Introduction: Despite a high mortality rate during the first year of life, an increasing number of patients with Trisomy 18 (T18) survive into childhood. Offering invasive medical and surgical procedures to this population continues to raise ethical questions. We present the case of a child with T18...
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Elsevier
2025-01-01
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| Series: | Journal of Pediatric Surgery Case Reports |
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| Online Access: | http://www.sciencedirect.com/science/article/pii/S2213576624001581 |
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| author | Lori-Anne Lajeunesse Mona Beaunoyer Monia Marzouki Caroline P. Lemoine |
| author_facet | Lori-Anne Lajeunesse Mona Beaunoyer Monia Marzouki Caroline P. Lemoine |
| author_sort | Lori-Anne Lajeunesse |
| collection | DOAJ |
| description | Introduction: Despite a high mortality rate during the first year of life, an increasing number of patients with Trisomy 18 (T18) survive into childhood. Offering invasive medical and surgical procedures to this population continues to raise ethical questions. We present the case of a child with T18 and hepatoblastoma, highlighting therapeutic and ethical challenges. Case presentation: A 2.5-year-old female with T18 known for a bicuspid aortic valve and developmental delay presented with an abdominal mass. Alpha-fetoprotein level was elevated (46,540 ng/mL) and imaging showed a single exophytic segment 5–6 liver mass and no metastatic disease, compatible with a PRETEXT II hepatoblastoma. Multidisciplinary discussions took place focusing on treatment options, the patient's quality of life, and her global prognosis. Given the patient's overall good condition, few comorbidities, and the family's wishes to proceed with curative measures, a bisegmentectomy 5,6 was performed. The patient was discharged 12 days postoperatively having suffered no surgical complication. Pathology revealed a mixed epithelial and mesenchymal hepatoblastoma. She received two cycles of adjuvant chemotherapy (cisplatin) without suffering from any complication. Now 5.5 years post-treatment, she remains disease-free. The family is grateful their daughter's chromosomal anomaly did not negatively influence medical and surgical teams in offering her optimal treatment options. Conclusion: Unless suffering from severe underlying medical comorbidities, patients with T18 and hepatoblastoma can receive gold standard care. Multidisciplinary collaboration involving surgeons, medical providers, as well as families are essential to determine optimal individualized treatment strategies. |
| format | Article |
| id | doaj-art-b6e240c1d1cb4cfd9060335ca6edc77d |
| institution | Kabale University |
| issn | 2213-5766 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of Pediatric Surgery Case Reports |
| spelling | doaj-art-b6e240c1d1cb4cfd9060335ca6edc77d2024-12-14T06:31:15ZengElsevierJournal of Pediatric Surgery Case Reports2213-57662025-01-01112102930Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case reportLori-Anne Lajeunesse0Mona Beaunoyer1Monia Marzouki2Caroline P. Lemoine3Division of Pediatric Surgery, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréa, Québec, CanadaDivision of Pediatric Surgery, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréa, Québec, CanadaDivision of Hematology and Oncology, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréal, Québec, CanadaDivision of Pediatric Surgery, Centre Hospitalier Universitaire Sainte-Justine, Université de Montréal, Montréa, Québec, Canada; Corresponding author. Centre Hospitalier Universitaire Sainte-Justine, 3175 Chemin de la Côte Sainte-Catherine, Montréal, Qc, H3T 1C5, Canada.Introduction: Despite a high mortality rate during the first year of life, an increasing number of patients with Trisomy 18 (T18) survive into childhood. Offering invasive medical and surgical procedures to this population continues to raise ethical questions. We present the case of a child with T18 and hepatoblastoma, highlighting therapeutic and ethical challenges. Case presentation: A 2.5-year-old female with T18 known for a bicuspid aortic valve and developmental delay presented with an abdominal mass. Alpha-fetoprotein level was elevated (46,540 ng/mL) and imaging showed a single exophytic segment 5–6 liver mass and no metastatic disease, compatible with a PRETEXT II hepatoblastoma. Multidisciplinary discussions took place focusing on treatment options, the patient's quality of life, and her global prognosis. Given the patient's overall good condition, few comorbidities, and the family's wishes to proceed with curative measures, a bisegmentectomy 5,6 was performed. The patient was discharged 12 days postoperatively having suffered no surgical complication. Pathology revealed a mixed epithelial and mesenchymal hepatoblastoma. She received two cycles of adjuvant chemotherapy (cisplatin) without suffering from any complication. Now 5.5 years post-treatment, she remains disease-free. The family is grateful their daughter's chromosomal anomaly did not negatively influence medical and surgical teams in offering her optimal treatment options. Conclusion: Unless suffering from severe underlying medical comorbidities, patients with T18 and hepatoblastoma can receive gold standard care. Multidisciplinary collaboration involving surgeons, medical providers, as well as families are essential to determine optimal individualized treatment strategies.http://www.sciencedirect.com/science/article/pii/S2213576624001581Case reportTrisomy 18HepatoblastomaEthical considerations |
| spellingShingle | Lori-Anne Lajeunesse Mona Beaunoyer Monia Marzouki Caroline P. Lemoine Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case report Journal of Pediatric Surgery Case Reports Case report Trisomy 18 Hepatoblastoma Ethical considerations |
| title | Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case report |
| title_full | Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case report |
| title_fullStr | Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case report |
| title_full_unstemmed | Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case report |
| title_short | Balanced care in managing hepatoblastoma in a patient with trisomy 18: A case report |
| title_sort | balanced care in managing hepatoblastoma in a patient with trisomy 18 a case report |
| topic | Case report Trisomy 18 Hepatoblastoma Ethical considerations |
| url | http://www.sciencedirect.com/science/article/pii/S2213576624001581 |
| work_keys_str_mv | AT loriannelajeunesse balancedcareinmanaginghepatoblastomainapatientwithtrisomy18acasereport AT monabeaunoyer balancedcareinmanaginghepatoblastomainapatientwithtrisomy18acasereport AT moniamarzouki balancedcareinmanaginghepatoblastomainapatientwithtrisomy18acasereport AT carolineplemoine balancedcareinmanaginghepatoblastomainapatientwithtrisomy18acasereport |