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Abstract：
BACKGROUND: Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increased risk of embryonal tumors. Notably however, reports of patients with BWS and breast tumors are rare, and the association between these conditions is still unclear. Insulin-like growth factor-2 (IGF2) expression is known to be associated with the development of various cancers, including breast cancer, and patients with BWS with specific subtypes of molecular defects are known to show characteristic clinical features and IGF2 overexpression.
METHODS: A 17-year-old girl who had been diagnosed with BWS based on an umbilical hernia, hyperinsulinemia, and left hemihypertrophy at birth, visited our department with a gradually swelling left breast. Her left breast was markedly larger than her right breast on visual examination. Imaging examinations showed two tumors measuring about 10 cm each in the left breast, and she was diagnosed with juvenile fibroadenoma following core needle biopsy. The two breast tumors were removed surgically and the patient remained alive with no recurrence. The final diagnosis was juvenile fibroadenoma without malignant findings. Immunohistochemical staining using IGF2 antibody revealed overexpression of IGF2 in the cytoplasm of ductal epithelial cells. Because of her clinical features and IGF2 overexpression, molecular defects of 11p15.5 including a possible genetic background of paternal uniparental disomy of chromosome 11 or hypermethylation of imprinting center 1 was suspected.
CONCLUSIONS: In this case, overexpression of IGF2 suggested a possible relationship between BWS and breast tumors. Moreover, the characteristic clinical features and IGF2 staining predicted the subtype of 11p15.5 molecular defects in this patient.
METHODS: A 17-year-old girl who had been diagnosed with BWS based on an umbilical hernia, hyperinsulinemia, and left hemihypertrophy at birth, visited our department with a gradually swelling left breast. Her left breast was markedly larger than her right breast on visual examination. Imaging examinations showed two tumors measuring about 10 cm each in the left breast, and she was diagnosed with juvenile fibroadenoma following core needle biopsy. The two breast tumors were removed surgically and the patient remained alive with no recurrence. The final diagnosis was juvenile fibroadenoma without malignant findings. Immunohistochemical staining using IGF2 antibody revealed overexpression of IGF2 in the cytoplasm of ductal epithelial cells. Because of her clinical features and IGF2 overexpression, molecular defects of 11p15.5 including a possible genetic background of paternal uniparental disomy of chromosome 11 or hypermethylation of imprinting center 1 was suspected.
CONCLUSIONS: In this case, overexpression of IGF2 suggested a possible relationship between BWS and breast tumors. Moreover, the characteristic clinical features and IGF2 staining predicted the subtype of 11p15.5 molecular defects in this patient.
摘要：
背景：Beckwith-Wiedemann综合征（BWS）是由染色体11p15.5的多种遗传和/或表观遗传疾病引起的基因组印记疾病。BWS具有多种临床特征，包括过度生长和胚胎肿瘤的风险增加。然而，值得注意的是，BWS和乳腺肿瘤患者的报告很少见，这些情况之间的关联尚不清楚。已知胰岛素样生长因子-2(IGF2)的表达与各种癌症的发展有关。包括乳腺癌,已知具有特定分子缺陷亚型的BWS患者表现出特征性临床特征和IGF2过表达。
方法：一名17岁女孩因脐疝被诊断患有BWS，高胰岛素血症,出生时留下了半肥大，左乳房逐渐肿胀，参观了我们的部门。在视觉检查中，她的左乳房明显大于她的右乳房。影像学检查显示，左乳房有两个肿瘤，每个肿瘤约10厘米，芯针活检后，她被诊断出患有青少年纤维腺瘤。手术切除了两个乳腺肿瘤，患者仍然活着，没有复发。最终诊断为青少年纤维腺瘤，无恶性发现。使用IGF2抗体的免疫组织化学染色显示IGF2在导管上皮细胞的细胞质中过度表达。由于她的临床特征和IGF2过表达，怀疑11p15.5的分子缺陷，包括11号染色体的父系单亲二体性或印迹中心1的超甲基化的可能遗传背景。
结论：在这种情况下，IGF2的过度表达提示BWS与乳腺肿瘤之间可能存在关系。此外，特征性临床特征和IGF2染色预测了该患者11p15.5分子缺陷的亚型。
方法：一名17岁女孩因脐疝被诊断患有BWS，高胰岛素血症,出生时留下了半肥大，左乳房逐渐肿胀，参观了我们的部门。在视觉检查中，她的左乳房明显大于她的右乳房。影像学检查显示，左乳房有两个肿瘤，每个肿瘤约10厘米，芯针活检后，她被诊断出患有青少年纤维腺瘤。手术切除了两个乳腺肿瘤，患者仍然活着，没有复发。最终诊断为青少年纤维腺瘤，无恶性发现。使用IGF2抗体的免疫组织化学染色显示IGF2在导管上皮细胞的细胞质中过度表达。由于她的临床特征和IGF2过表达，怀疑11p15.5的分子缺陷，包括11号染色体的父系单亲二体性或印迹中心1的超甲基化的可能遗传背景。
结论：在这种情况下，IGF2的过度表达提示BWS与乳腺肿瘤之间可能存在关系。此外，特征性临床特征和IGF2染色预测了该患者11p15.5分子缺陷的亚型。
