Germline pathogenic variants in AMER1 cause osteopathia striata with cranial sclerosis (OSCS: OMIM 300373), an X-linked sclerosing bone disorder. Female heterozygotes exhibit metaphyseal striations in long bones, macrocephaly, cleft palate, and, occasionally, learning disability. Male hemizygotes typically manifest the condition as fetal or neonatal death. Somatically acquired variants in AMER1 are found in neoplastic tissue in 15–30% of patients with Wilms tumor; however, to date, only one individual with OSCS has been reported with a Wilms tumor. Here we present four cases of Wilms tumor in unrelated individuals with OSCS, including the single previously published case. We also report the first case of bilateral Wilms tumor in a patient with OSCS. Tumor tissue analysis showed no clear pattern of histological subtypes. In Beckwith–Wiedemann syndrome, which has a known predisposition to Wilms tumor development, clinical protocols have been developed for tumor surveillance. In the absence of further evidence, we propose a similar protocol for patients with OSCS to be instituted as an initial precautionary approach to tumor surveillance. Further evidence is needed to refine this protocol and to evaluate the possibility of development of other neoplasms later in life, in patients with OSCS.

AMER1中的种系致病变异导致骨病纹状体伴颅硬化 (OSCS: OMIM 300373)，这是一种 X 连锁硬化性骨病。女性杂合子在长骨中表现出干骺端条纹、大头畸形、腭裂，偶尔还会出现学习障碍。男性半合子通常表现为胎儿或新生儿死亡。AMER1 中体细胞获得的变体在 15-30% 的肾母细胞瘤患者的肿瘤组织中发现；然而，迄今为止，只有一名 OSCS 患者被报告患有肾母细胞瘤。在这里，我们介绍了四例与 OSCS 无关的个体中的 Wilms 肿瘤，包括先前发表的单个病例。我们还报告了首例 OSCS 患者双侧肾母细胞瘤的病例。肿瘤组织分析显示没有明确的组织学亚型模式。在已知易患肾母细胞瘤的 Beckwith-Wiedemann 综合征中，已经制定了用于肿瘤监测的临床方案。在没有进一步证据的情况下，我们建议为 OSCS 患者制定一个类似的方案，作为肿瘤监测的初步预防方法。