Sbaraglia Marta, Zanatta Lucia, Toffolatti Luisa, Spallanzani Andrea, Bertolini Federica, Mattioli Francesco, Lami Federico, Presutti Livio, Dei Tos Angelo P
Department of Pathology, Azienda Ospedale Università Padova, Padua, Italy.
Department of Pathology, Azienda ULSS N. 2 Marca Trevigiana, Treviso, Italy.
Virchows Arch. 2021 Jun;478(6):1203-1207. doi: 10.1007/s00428-020-02933-2. Epub 2020 Oct 2.
Malignant gastrointestinal neuroectodermal tumor (M-GNET) and clear cell sarcoma (CCS) of soft tissue represent closely related, extremely rare, malignant mesenchymal neoplasm of uncertain differentiation. Both entities are characterized genetically by the same molecular alterations represented by the presence of EWSR1-ATF1 and, more rarely, EWSR1-CREB1 fusion genes. The latter translocation seems to be more represented in M-GNET that, despite significant morphologic overlap with CCS, tends to lack overt features of melanocytic differentiation. Most M-GNET occur in the lower gastrointestinal tract, whereas occurrence in the upper tract has been reported only exceptionally. The differential diagnosis represents a major challenge, and accurate diagnosis impact significantly on therapeutic planning. We herein report the clinicopathologic features of a molecularly confirmed M-GNET that arose at the base of the tongue and review the pertinent literature.
恶性胃肠道神经外胚层肿瘤（M-GNET）和软组织透明细胞肉瘤（CCS）是密切相关、极为罕见的恶性间叶性肿瘤，其分化情况尚不确定。这两种实体在基因上的特征是存在相同的分子改变，表现为EWSR1-ATF1融合基因，更罕见的是EWSR1-CREB1融合基因。后一种易位似乎在M-GNET中更常见，尽管M-GNET与CCS在形态学上有显著重叠，但往往缺乏明显的黑素细胞分化特征。大多数M-GNET发生在下消化道，而上消化道发生的情况仅偶有报道。鉴别诊断是一项重大挑战，准确诊断对治疗方案的制定有重大影响。我们在此报告一例经分子确诊、发生于舌根的M-GNET的临床病理特征，并复习相关文献。
