Malignant gastrointestinal neuroectodermal tumor

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Abstract

Malignant gastrointestinal neuroectodermal tumor (GNET) is a rare, aggressive, highly malignant mesenchymal tumor of the gastrointestinal tract. It commonly arises within the gastrointestinal tract, mostly involving the small intestine. The molecular features of GNET include chromosomal translocations t(12;22)(q13;q12) and t(2;22)(q34;q12) resulting in EWSR1–ATF1 and EWSR1–CREB1 gene fusions, respectively. Only a few cases of GNET in children and adolescents have been described in the international literature. Here, we report a case of metastatic GNET in a 6-year-old boy. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications. The diagnosis was confirmed histologically and by high-throughput RNA exome sequencing which revealed the typical EWSR1–ATF1 fusion transcript. In this article, we give the details of the patient's treatment that included intensive chemotherapy and the administration of the c-Met/ ALK inhibitor crizotinib with a transient antitumor effect. We also provide a literature review describing the clinical features and pathogenesis of GNET, its differential diagnosis and treatment approaches.

About the authors

P. V. Kralichkin

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-8088-1749

Moscow

Russian Federation

M. V. Teleshova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-4042-0125

Moscow

Russian Federation

I. V. Sidorov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-8578-6572

Moscow

Russian Federation

D. M. Konovalov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-7732-8184

Moscow

Russian Federation

A. E. Druy

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-1308-8622

Moscow

Russian Federation

N. N. Merkulov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-0404-6420

Moscow

Russian Federation

D. G. Akhaladze

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-1387-209X

Moscow

Russian Federation

A. P. Troitskaya

Regional Children’s Clinical Hospital

Yaroslavl

Russian Federation

I. E. Volkova

Regional Children’s Clinical Hospital

Yaroslavl

Russian Federation

T. V. Shamanskaya

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-3767-4477

Moscow

Russian Federation

N. V. Zhukov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-9054-5068

Moscow

Russian Federation

N. V. Myakova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-4779-1896

Moscow

Russian Federation

D. Yu. Kachanov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: Denis.Kachanov@fccho-moscow.ru

Denis Yu. Kachanov, Dr. Med. Sci., Head of the Department of Clinical Oncology, Deputy Director of the Institute of Oncology, Radiology and Nuclear Medicine

117997, Moscow, Samory Mashela St., 1

Russian Federation

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Copyright (c) 2022 Kralichkin P.V., Teleshova M.V., Sidorov I.V., Konovalov D.M., Druy A.E., Merkulov N.N., Akhaladze D.G., Troitskaya A.P., Volkova I.E., Shamanskaya T.V., Zhukov N.V., Myakova N.V., Kachanov D.Y.

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