Background/Objectives: Adrenocortical tumors (ACTs), including adrenocortical adenoma (ACA) and carcinoma (ACC), represent 0.3–0.4% of pediatric tumors. Beckwith–Wiedemann spectrum (BWSp) confer an increased risk of ACTs, but prognosis, management, and associated molecular characteristics are unclear. Methods: This paper combines a literature review of 54 published cases of BWSp-ACT with a report of one newly identified patient, totaling 55 cases with a confirmed BWSp clinical and/or molecular diagnosis. Results: Nineteen patients with ACA, 33 with ACC, and 3 with ACT of uncertain malignant potential (umACT) were included. Twenty patients had uniparental disomy of chromosome 11p15.5 (patUPD11), 11imprinting Center 2 Loss-of-methylation (IC2-LoM), and had 2 11p15 locus duplication. Eleven patients were diagnosed during cancer screening procedures, including two metastatic at diagnosis ACC. Conclusions: Almost half of ACC patients reached the minimum score for clinical BWSp diagnosis only after ACC onset, suggesting that the BWSp score has limited value for the early diagnosis in such a setting. Two patients with metastatic ACC had a histopathological Wieneke score ≤2, not correlating with clinical malignancy and confirming limitations of the current histopathological classification, as previously documented. Ultrasound screening failed identifying the ACC before metastasis in two cases, indicating an urgent need to develop new strategies for screening of ACTs in BWSp. Furthermore, some cases of metastatic ACC exhibited unexpectedly indolent behavior despite being malignant.
背景/目的：肾上腺皮质肿瘤（ACTs），包括肾上腺皮质腺瘤（ACA）和肾上腺皮质癌（ACC），约占儿童肿瘤的0.3–0.4%。Beckwith-Wiedemann谱系（BWSp）会增加罹患ACTs的风险，但其预后、管理及相关分子特征尚不明确。方法：本文结合对54例已发表的BWSp-ACT病例的文献综述及一例新确诊患者的报告，共纳入55例经临床和/或分子诊断确诊的BWSp-ACT病例。结果：研究包括19例ACA患者、33例ACC患者及3例恶性潜能未定的ACT（umACT）患者。其中20例患者存在11p15.5染色体区段父源单亲二体（patUPD11），11例存在印记控制中心2区低甲基化（IC2-LoM），2例存在11p15位点重复。11例患者通过癌症筛查程序确诊，其中包括2例诊断时已发生转移的ACC。结论：近半数ACC患者仅在ACC发病后才达到临床BWSp诊断的最低评分，提示在此类情况下BWSp评分对早期诊断的价值有限。两例转移性ACC患者的组织病理学Wieneke评分≤2，与临床恶性程度不符，证实了当前组织病理学分类的局限性，这与既往文献报道一致。在两例病例中，超声筛查未能在转移前识别出ACC，表明迫切需要开发针对BWSp患者ACT筛查的新策略。此外，尽管部分转移性ACC病例具有恶性性质，却表现出意料之外的惰性病程。
Molecular and Clinical Features of Adrenocortical Tumors in Beckwith–Wiedemann Spectrum
肿瘤(癌症)患者之家