A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT Carcinoma-Reference-Cited by-同舟云学术

A Novel NUTM1-NSMCE2 Fusion Gene in a Pediatric Chest NUT Carcinoma

Published:2024-05-21 Issue: Volume: Page:
ISSN:1077-4114
Container-title:Journal of Pediatric Hematology/Oncology
language:en
Short-container-title:

Author:

De Leonardis Francesco¹,Greco Miani Vittorio¹,Vallese Silvia²,Barresi Sabina²,Marulli Giuseppe³,Novielli Chiara¹,Dall’Igna Patrizia⁴,Maruccia Michele⁵,Santoro Nicola¹

Affiliation:

1. Division of Paediatric Haematology-Oncology, University Hospital of Bari

2. Department of Organ Transplantation and Emergency, Thoracic Surgery Unit, University Hospital of Bari

3. Department of Emergencies and Organ Transplantation, Pediatric Surgery, University of Bari

4. Department of Emergency and Organ Transplantation, Plastic and Reconstructive Surgery and Burns Unit, University of Bari “Aldo Moro,” Bari

5. Department of Laboratories, Pathology Unit, Bambino Gesu Children’s Hospital, IRCCS, Rome, Italy

Abstract

Nuclear protein of the testis carcinoma is an exceedingly rare and poorly differentiated carcinoma characterized by BDR4::NUTM1 gene translocation. Typically, the tumor affects young adults, and no standardized recommendations for therapeutic management have been available since 2022; the clinical course remains mostly dismal. We report the successful multimodal treatment of a 13-year-old boy affected by a primary chest NUT-carcinoma with a novel NUTM1 rearrangement that remains in complete continuous remission at 30 months from diagnosis.

Publisher

Ovid Technologies (Wolters Kluwer Health)

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