Sosnowska-Sienkiewicz Patrycja, Kamińska Alicja, Anderko Iwona, Telman-Kołodziejczyk Gabriela, Mańkowski Przemysław, Januszkiewicz-Lewandowska Danuta
Department of Pediatric Surgery, Traumatology and Urology, Poznan University of Medical Sciences, 60-572 Poznan, Poland.
University Research Hospital in Poznan, Poznan University of Medical Sciences, 60-355 Poznan, Poland.
Genes (Basel). 2024 Apr 7;15(4):463. doi: 10.3390/genes15040463.
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.
爱德华兹综合征的嵌合型影响所有患爱德华兹综合征儿童的5%。其临床表型高度可变，从完全的18三体综合征谱到正常表型。本出版物的目的是在一名患有爱德华兹综合征嵌合型和肝母细胞瘤的18个月大女孩的治疗过程中，以迄今所描述的该综合征与肝母细胞瘤同时发生的其他病例为背景进行呈现。看来，这一特定组患有肝母细胞瘤和爱德华兹综合征的患者如果没有危及生命的心脏或其他严重缺陷，可能会有良好的预后。由于我们的患者早产以及与爱德华兹综合征相关的缺陷，该患儿需要持续的多学科护理，但爱德华兹综合征本身并非中断肝脏恶性肿瘤治疗的理由。定期腹部超声检查以及甲胎蛋白检测，可能有助于早期发现患有爱德华兹综合征儿童的肝脏肿瘤。
