Objective: To investigate the relationship between 1p/16q loss of heterozygosity (LOH) and 1p gain in Wilms tumor and their clinicopathologic characteristics and prognosis. Methods: A total of 175 Wilms tumor samples received from the Department of Pathology, Beijing Children's Hospital from September 2019 to August 2022 were retrospectively analyzed. The histopathologic type and presence of lymph node involvement were evaluated by two pathologists. The clinical data including patients'gender, age, tumor location, preoperative chemotherapy, and tumor stage were summarized. Fluorescence in situ hybridization (FISH) was done to detect 1p/16q LOH and 1p gain and their correlation with the clinicopathological features and prognosis were analyzed. Results: Among the 175 samples, 86 cases (49.1%) were male and 89 (50.9%) were female. The mean age was (3.5±2.9) years, and the median age was 2.6 years. There were 26 (14.9%) cases with 1p LOH, 28 (16.0%) cases with 16q LOH, 10 (5.7%) cases of LOH at both 1p and 16q, and 53 (30.3%) cases with 1q gain. 1q gain was significantly associated with 1p LOH (P<0.01) and 16q LOH (P<0.01). There were significant differences (P<0.01) between 1q gain, 1p LOH and 16q LOH among different age groups. The rate of 16q LOH in the high-risk histopathological subtype (50.0%) was significantly higher than that in the intermediate-risk subtype (13.6%, P<0.05). The frequency of 1q gain, 1p LOH, and 16q LOH in children with advanced clinical stages (Ⅲ and Ⅳ) was significantly higher than that in children with early clinical stages (Ⅰ and Ⅱ). 1q gain, 1p LOH, and 16q LOH showed no significant correlation with gender, unilateral or bilateral disease, chemotherapy, or lymph node metastasis. The progression-free survival (PFS) time for patients with 1q gain and 1p LOH was significantly shorter than those without these aberrations (P<0.05). Additionally, the PFS time of patients with 16q LOH was slightly shorter than those with normal 16q, although the difference was not statistically significant. Patients with stage Ⅲ to Ⅳ disease exhibiting 1q gain or 1p LOH had a significantly higher relative risk of recurrence, metastasis, and mortality. Conclusions: 1p/16q LOH and 1q gain are associated with age, high-risk histological type, and clinical stage in Wilms tumor. 1q gain and 1p LOH are significantly correlated with the prognosis of Wilms tumor.
目的： 探讨肾母细胞瘤1p/16q杂合性缺失（loss of heterozygosity，LOH）、1q获得与临床病理特征及预后的关系。 方法： 回顾性分析2019年9月至2022年8月北京儿童医院病理科接收的肾母细胞瘤样本共175例。经由2名病理医师明确组织学分型和淋巴结受累情况。查阅临床资料，对儿童性别、年龄、肿瘤部位、手术前化疗情况及临床分期进行汇总分析。采用病历查询和电话方式进行随访，了解患儿预后情况。荧光原位杂交法（fluorescence in situ hybridization，FISH）检测肿瘤1p/16q杂合性缺失、1q获得情况，并探究其异常与临床病理特征及预后的关系。 结果： 175例样本中，男性86例（49.1%），女性89（50.9%）。平均年龄（3.5±2.9）岁，中位年龄为2.6岁。1p缺失26例（14.9%），16q缺失28例（16.0%），1p、16q共缺失10例（5.7%）；1q获得53例（30.3%）。1q获得与1p缺失（P<0.001）及16q缺失（P<0.01）显著相关。在不同年龄组患儿中，1q获得、1p缺失及16q缺失率差异均有统计学意义（P<0.01）。高危病理组织学类型16q缺失率（50.0%）显著高于中危型（13.6%，P<0.05）。临床分期晚期（Ⅲ、Ⅳ）患儿1q获得、1p缺失及16q缺失率均显著高于临床分期早期（Ⅰ、Ⅱ）患儿（P<0.01）。1q获得、1p缺失及16q缺失异常与性别、单双侧发病、是否化疗、淋巴结是否转移无显著相关性。1q获得、1p缺失肾母细胞瘤患儿的无进展生存时间（progress-free survival，PFS）较1q、1p正常患儿显著缩短（P<0.05），16q缺失患儿的无进展生存时间略短于16q正常患儿，但差异无统计学意义。在晚期肾母细胞瘤患儿中，伴随1q获得、1p缺失具有相对更高的复发转移死亡相对危险度。 结论： 肾母细胞瘤1p/16q杂合性缺失、1q获得情况与年龄、高危病理组织学类型及临床分期相关。1q获得、1p缺失与肾母细胞瘤患儿预后显著相关。.