Fortarezza Francesco, Pezzuto Federica, Cazzato Gerardo, Punzo Clelia, d'Amati Antonio, Lettini Teresa, Gentile Mattia, Buonadonna Antonia Lucia, Mariano Marta, Pezzolla Angela, Serio Gabriella
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, Pathology Unit, University of Padova, 35121 Padova, Italy.
Department of Emergency and Organ Transplantation (DETO), Pathology Section, Breast Unit Care, University of Bari, Medical School, 70124 Bari, Italy.
Diagnostics (Basel). 2020 Oct 15;10(10):825. doi: 10.3390/diagnostics10100825.
The breast phyllodes tumor is a biphasic tumor that accounts for less than of 1% of all breast neoplasms. It is classified as benign, borderline, or malignant, and can mimic benign masses. Some recurrent alterations have been identified. However, a precise molecular classification of these tumors has not yet been established. Herein, we describe a case of a 43-year-old woman that was admitted to the emergency room for a significant bleeding from the breast skin. A voluminous ulcerative mass of the left breast and multiple nodules with micro-calcifications on the right side were detected at a physical examination. A left total mastectomy and a nodulectomy of the right breast was performed. The histological diagnosis of the surgical specimens reported a bilateral giant phyllodes tumor, showing malignant features on the left and borderline characteristics associated with a fibroadenoma on the right. A further molecular analysis was carried out by an array-Comparative Genomic Hybridization (CGH) to characterize copy-number alterations. Many losses were detected in the malignant mass, involving several tumor suppressor genes. These findings could explain the malignant growth and the metastatic risk. In our study, genomic profiling by an array-CGH revealed a greater chromosomal instability in the borderline mass (40 total defects) than in the malignant (19 total defects) giant phyllodes tumor, reflecting the tumor heterogeneity. Should our results be confirmed with more sensitive and specific molecular tests (DNA sequencing and FISH analysis), they could allow a better selection of patients with adverse pathological features, thus optimizing and improving patient's management.
乳腺叶状肿瘤是一种双相性肿瘤，占所有乳腺肿瘤的比例不到1%。它被分为良性、交界性或恶性，可类似良性肿块。已经发现了一些复发性改变。然而，这些肿瘤的精确分子分类尚未建立。在此，我们描述了一例43岁女性因乳腺皮肤大量出血被送入急诊室的病例。体格检查发现左侧乳房有一个巨大溃疡性肿块，右侧有多个伴有微钙化的结节。进行了左侧全乳切除术和右侧乳房结节切除术。手术标本的组织学诊断报告为双侧巨大叶状肿瘤，左侧显示恶性特征，右侧显示与纤维腺瘤相关的交界性特征。通过阵列比较基因组杂交（CGH）进行了进一步的分子分析，以表征拷贝数改变。在恶性肿块中检测到许多缺失，涉及多个肿瘤抑制基因。这些发现可以解释恶性生长和转移风险。在我们的研究中，通过阵列CGH进行的基因组分析显示，交界性肿块（共40个缺陷）的染色体不稳定性比恶性（共19个缺陷）巨大叶状肿瘤更大，反映了肿瘤的异质性。如果我们的结果能通过更敏感和特异的分子检测（DNA测序和FISH分析）得到证实，它们可以更好地选择具有不良病理特征的患者，从而优化和改善患者的管理。
