Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome

The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with t...

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Bibliographic Details
Published in:Genes 2024-04, Vol.15 (4), p.463
Main Authors: Sosnowska-Sienkiewicz, Patrycja, Kamińska, Alicja, Anderko, Iwona, Telman-Kołodziejczyk, Gabriela, Mańkowski, Przemysław, Januszkiewicz-Lewandowska, Danuta
Format: Article
Language:English
Subjects:
Abdomen
Amniocentesis
Biopsy
Cancer therapies
Chemotherapy
Children
Children & youth
Chromosomes
Chromosomes, Human, Pair 18 - genetics
Congenital diseases
Disease management
Female
Genetic disorders
Health aspects
Heart
Hepatoblastoma - genetics
Hepatoblastoma - therapy
Humans
Infant
Liver
Liver cancer
Liver Neoplasms - genetics
Liver Neoplasms - pathology
Lymphatic system
Magnetic resonance imaging
Medical prognosis
Microcephaly
Mosaicism
Patient outcomes
Patients
Pediatrics
Phenotypes
Surgery
Treatment Outcome
Trisomy
Trisomy - genetics
Trisomy 18 Syndrome - complications
Trisomy 18 Syndrome - genetics
Tumors
Ultrasonic imaging
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Summary:The mosaic form of Edwards syndrome affects 5% of all children with Edwards syndrome. The clinical phenotype is highly variable, ranging from the full spectrum of trisomy 18 to the normal phenotype. The purpose of this publication was to present the therapeutic process in an 18-month-old girl with the mosaic form of Edwards syndrome and hepatoblastoma, against the background of other cases of simultaneous occurrence of this syndrome and hepatoblastoma described so far. It appears that this particular group of patients with hepatoblastoma and Edwards syndrome can have good outcomes, provided they do not have life-threatening cardiac or other severe defects. Due to the prematurity of our patient and the defects associated with Edwards syndrome, the child required constant multidisciplinary care, but Edwards syndrome itself was not a reason to discontinue therapy for a malignant neoplasm of the liver. Regular abdominal ultrasound examination, along with AFP testing, may be helpful in the early detection of liver tumors in children with Edwards syndrome.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes15040463