Papi Simona, Combi Francesca, Segattini Silvia, Accogli Silvia, Palma Enza, Gambini Anna, Andreotti Alessia, Luppi Gabriele, Tazzioli Giovanni
Division of Breast Surgical Oncology, Department of Medical and Surgical, Maternal-Infantile and Adult Sciences, University Hospital of Modena, Modena, Italy.
International PhD School in Clinical and Experimental Medicine (CEM), University of Modena and Reggio Emilia, Modena, Italy.
Front Oncol. 2022 Jul 12;12:915844. doi: 10.3389/fonc.2022.915844. eCollection 2022.
Ewing's Sarcoma Family Tumors (ESFT) include classic Ewing's sarcoma of bone, extra-skeletal Ewing's sarcoma (EES), malignant small cell tumor of the chest wall (Askin tumor), and soft tissue-based Peripheral Primitive Neuroectodermal tumors (pPNET). The t(11;22)(q24;q12) translocation is associated with 85% of tumors and leads to EWS-FLI-1 (Ewing's Sarcoma-Friend Leukemia Integration-1) formation. This is a potent transforming gene that encodes a chimeric protein that plays a role in the genesis of Ewing's Sarcoma and Primitive Neuroectodermal Tumors. The breast location of ESFT remains exceptional. The prognosis is among the poorest of all subtypes of breast cancer and even poorer than other extraosseous Ewing's sarcomas. We describe the case report of a 23-year-old patient with a growing breast lump, who required an accurate and challenging diagnostic estimation and who ultimately resulted in a peripheral primary neuroectodermal tumor (pPNET). Through this case description and a brief narrative review of the literature, we aim to highlight the rarity of ESFT located in the breast. Histopathological confirmation is mandatory for all growing masses of the breast to reach a conclusive diagnosis and plan the correct treatment. Patients with rare diagnoses should always be centralized in breast units, conducting multidisciplinary meetings and, when necessary, the diagnosis should be shared through wider national or international registries.
尤因肉瘤家族性肿瘤(ESFT)包括骨的经典尤因肉瘤、骨外尤因肉瘤(EES)、胸壁恶性小细胞瘤(阿斯金瘤)以及软组织型外周原始神经外胚层肿瘤(pPNET)。t(11;22)(q24;q12)易位与85%的肿瘤相关,并导致EWS-FLI-1(尤因肉瘤-友伴白血病整合-1)形成。这是一个强效的转化基因,编码一种嵌合蛋白,该蛋白在尤因肉瘤和原始神经外胚层肿瘤的发生过程中起作用。ESFT发生于乳腺的情况仍然罕见。其预后在所有乳腺癌亚型中是最差的,甚至比其他骨外尤因肉瘤还要差。我们描述了一名23岁乳腺肿块增大患者的病例报告,该患者需要进行准确且具有挑战性的诊断评估,最终诊断为外周原发性神经外胚层肿瘤(pPNET)。通过这个病例描述以及对文献的简要叙述性回顾,我们旨在强调乳腺ESFT的罕见性。对于所有乳腺肿块增大的情况,组织病理学确诊对于得出确定性诊断和规划正确治疗至关重要。罕见诊断的患者应始终集中在乳腺专科单位,进行多学科会诊,必要时应通过更广泛的国家或国际登记处共享诊断信息。