Clear cell sarcoma-like/malignant gastrointestinal neuroectodermal tumor of the tongue: a clinicopathologic and molecula
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BRIEF REPORT
Clear cell sarcoma-like/malignant gastrointestinal neuroectodermal tumor of the tongue: a clinicopathologic and molecular case report Marta Sbaraglia 1 & Lucia Zanatta 2 & Luisa Toffolatti 2 & Andrea Spallanzani 3 & Federica Bertolini 3 & Francesco Mattioli 4 & Federico Lami 4 & Livio Presutti 4 & Angelo P. Dei Tos 1,5 Received: 12 June 2020 / Revised: 7 September 2020 / Accepted: 15 September 2020 # Springer-Verlag GmbH Germany, part of Springer Nature 2020
Abstract 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. Keywords Oral cavity . Clear cell sarcoma . Malignant gastrointestinal neuroectodermal tumor . Next-generation sequencing
Introduction Malignant gastrointestinal neuroectodermal tumor (MGNET) and clear cell sarcoma (CCS) of soft tissue represent extremely rare, closely related, malignant mesenchymal neoplasms, showing variable features of melanocytic differentiation, and classified by WHO classification of soft tissue in the group of tumors of uncertain differentiation [1]. Clear cell sarcoma was first reported in 1965 by Enzinger, as a tumor arising in the deep soft tissues of the distal extremities [2].
* Marta Sbaraglia [email protected] 1
Department of Pathology, Azienda Ospedale Università Padova, Padua, Italy
2
Department of Pathology, Azienda ULSS N. 2 Marca Trevigiana, Treviso, Italy
3
Department of Oncology and Hematology, University Hospital of Modena, Modena, Italy
4
Otorhinolaryngology Head and Neck Surgery Department, University Hospital of Modena, Modena, Italy
5
Department of Medicine, University of Padua School of Medicine, Padua, Italy
Subsequently, Enzinger himself coined the alternative label “melanoma of soft parts” [3]; however, despite some morphologic similarities, CCS is clinically, pathologically, and genetically distinct from cutaneous melanoma. Clear cell sarcoma occurs predominantly in adolescents and young adults, with a peak incidence between 20 and 40 years of age. In addition to the limbs, CCS has also been reported in the head/neck region including the oral cavity, in the trunk, and in the viscera including the lung and gastrointestinal trac
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