Genes, Vol. 15, Pages 463: Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome
Genes, Vol. 15, Pages 463: Therapeutic Management and Outcomes of Hepatoblastoma in a Pediatric Patient with Mosaic Edwards Syndrome
Genes doi: 10.3390/genes15040463
Authors:
Patrycja Sosnowska-Sienkiewicz
Alicja Kamińska
Iwona Anderko
Gabriela Telman-Kołodziejczyk
Przemysław Mańkowski
Danuta Januszkiewicz-Lewandowska
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
Source: Genes - Category: Genetics & Stem Cells Authors: Patrycja Sosnowska-Sienkiewicz Alicja Kami ńska Iwona Anderko Gabriela Telman-Ko łodziejczyk Przemys ław Mańkowski Danuta Januszkiewicz-Lewandowska Tags: Case Report Source Type: research
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