Ductal adenoma with AKT1 and EGFR mutations: Report of a case and review of literature

Nejla Gümüs , Xavier Catteau , Jean-Christophe Noël
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Abstract

Background

A ductal adenoma is a rare benign epithelial tumour of the breast. Its origin is unclear, but some authors consider that they arise from intraductal papilloma that undergoes sclerosis and lose their papillary architecture.

Case presentation

A 43-year-old woman presented a palpable mass in the right breast. Mammography revealed a well-demarcated nodule of 9 mm. Histological examination showed a nodular proliferation of glands without papillary structures circumscribed by a dense fibrous wall. Glandular tubules were round or ovoid. The epithelial cells showed no atypia and mitosis were absent. Gene mutation testing has been performed.

Conclusion

To the best of our knowledge, we reported the first case of a ductal adenoma with AKT1 and EGFR mutations. We also reviewed the literature concerning the molecular profile of ductal adenoma and papillary lesions.

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伴有AKT1和EGFR突变的导管腺瘤1例报告及文献复习
背景乳腺导管腺瘤是一种罕见的良性乳腺上皮肿瘤。其起源尚不清楚,但一些作者认为它们源于导管内乳头状瘤,该乳头状瘤经过硬化并失去乳头状结构。病例介绍:一名43岁的女性右乳房有明显肿块。乳腺摄影显示一个9毫米的清晰结节。组织学检查显示腺体结节性增生,无乳头状结构,周围有致密纤维壁。腺小管呈圆形或卵圆形。上皮细胞无异型性,无有丝分裂。已经进行了基因突变测试。结论据我们所知,我们报告了第一例伴有AKT1和EGFR突变的导管腺瘤。我们还回顾了有关导管腺瘤和乳头状病变的分子特征的文献。
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