Case Western Reserve University School of Medicine.
Department of Pediatrics, Division of Pediatric Hematology Oncology.
J Pediatr Hematol Oncol. 2023 Nov 1;45(8):e1018-e1022. doi: 10.1097/MPH.0000000000002756. Epub 2023 Sep 26.
Trisomy 18 is associated with several congenital malformations, including horseshoe kidney. It can be full, partial, or mosaic, and mosaicism is often associated with lesser severity and longer life expectancy, placing patients at greater risk of developing neoplasms or malignancies. One common tumor among children with Trisomy 18 is Wilms tumor, which is also associated with renal congenital abnormalities such as horseshoe kidney. We present a case describing the occurrence of these three characteristics: development of Wilms tumor in a patient with Trisomy 18 and a horseshoe kidney and discuss treatment with regards to these conditions.
18 三体综合征与多种先天性畸形有关，包括马蹄肾。它可以是完全的、部分的或镶嵌的，镶嵌型通常与较轻的严重程度和更长的预期寿命相关，使患者面临更大的发展肿瘤或恶性肿瘤的风险。18 三体综合征患儿中常见的肿瘤之一是肾母细胞瘤，它也与马蹄肾等肾脏先天性异常有关。我们报告了一例同时具有这三种特征的病例：18 三体综合征患者发生肾母细胞瘤和马蹄肾，并讨论了这些情况下的治疗。
