Lauriane Lemelle1, Gaëlle Pierron2, Paul Fréneaux3, Sophie Huybrechts4, Alexandra Spiegel5, Dominique Plantaz6, Morbize Julieron7, Sophie Dumoucel8, Antoine Italiano9, Fréderic Millot10, Christophe Le Tourneau11,12, Guy Leverger13, Pascal Chastagner14, Matthieu Carton15, Daniel Orbach1,16. 1. Department of Pediatric, Adolescent, Young Adults, Institut Curie, Paris, France. 2. Unité de Génétique somatique, Institut Curie, Paris, France. 3. Département de pathologie, Institut Curie, Paris, France. 4. Hematology-Oncology Unit, Hôpital Universitaire des Enfants Reine Fabiola, ULB Université libre de Bruxelles, Brussels, Belgium. 5. Department of Pediatric Hematology-Oncology, CHU Hautepierre, Strasbourg, France. 6. Department of Pediatric Hematology-Oncology, Hôpital de Grenoble, Grenoble, France. 7. Head and Neck Surgery Department, Centre Oscar Lambret, Lille, France. 8. CHU Sainte Justine, University of Montreal, Montreal, Canada. 9. Department of Medical Oncology, Institut Bergonié, Bordeaux, France. 10. Pediatric Oncology Department, Centre Hospitalier Universitaire Poitiers, Poitiers, France. 11. Medical Oncology Department, Institut Curie, Paris, France. 12. INSERM U900 Research unit, Saint-Cloud, France. 13. Department of Pediatric Hematology and Oncology, Assistance Publique - Hôpitaux de Paris, Hôpital Armand Trousseau, Paris, France. 14. Department of Pediatric Hematology-Oncology, Hôpital d'Enfants de Brabois, Vandoeuvre Les Nancy, France. 15. Population-Based Epidemiological Cohorts Unit, INSERM UMS 11, Villejuif, France. 16. French Pediatric Rare Tumor Group (groupe Fracture).
Abstract
BACKGROUND: Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor defined by the presence of NUT rearrangement with a poor prognosis. This rare cancer is underdiagnosed and poorly treated. OBJECTIVE: The primary objective of this study was to describe the clinical, radiologic, and biological features of NUT carcinoma. The secondary objective was to describe the various treatments and assess their efficacy. METHODS: This retrospective multicenter study was based on review of the medical records of children and adults with NUT carcinoma with specific rearrangement or positive anti-NUT nuclear staining (>50%). RESULTS: This series of 12 patients had a median age of 18.1 years (ranges: 12.3-49.7 years). The primary tumor was located in the chest in eight patients, the head and neck in three patients, and one patient had a multifocal tumor. Nine patients presented regional lymph node involvement and eight distant metastases. One-half of patients were initially misdiagnosed. Specific NUT antibody was positive in all cases tested. A transient response to chemotherapy was observed in four of 11 patients. Only two patients were treated by surgery and five received radiotherapy with curative intent. At the end of follow-up, only one patient was still in remission more than 12 years after the diagnosis. Median overall survival was 4.7 months (95% confidence interval [CI]: 2.1-17.7). CONCLUSION: NUT carcinoma is an aggressive disease refractory to conventional therapy. Early diagnosis by NUT-specific antibody immunostaining in cases of undifferentiated or poorly differentiated carcinoma to identify the specific rearrangement of NUT gene is useful to propose the optimal therapeutic strategy.
BACKGROUND: Nuclear protein of the testis (NUT) carcinoma (formerly NUT midline carcinoma) is an aggressive tumor defined by the presence of NUT rearrangement with a poor prognosis. This rare cancer is underdiagnosed and poorly treated. OBJECTIVE: The primary objective of this study was to describe the clinical, radiologic, and biological features of NUT carcinoma. The secondary objective was to describe the various treatments and assess their efficacy. METHODS: This retrospective multicenter study was based on review of the medical records of children and adults with NUT carcinoma with specific rearrangement or positive anti-NUT nuclear staining (>50%). RESULTS: This series of 12 patients had a median age of 18.1 years (ranges: 12.3-49.7 years). The primary tumor was located in the chest in eight patients, the head and neck in three patients, and one patient had a multifocal tumor. Nine patients presented regional lymph node involvement and eight distant metastases. One-half of patients were initially misdiagnosed. Specific NUT antibody was positive in all cases tested. A transient response to chemotherapy was observed in four of 11 patients. Only two patients were treated by surgery and five received radiotherapy with curative intent. At the end of follow-up, only one patient was still in remission more than 12 years after the diagnosis. Median overall survival was 4.7 months (95% confidence interval [CI]: 2.1-17.7). CONCLUSION:NUT carcinoma is an aggressive disease refractory to conventional therapy. Early diagnosis by NUT-specific antibody immunostaining in cases of undifferentiated or poorly differentiated carcinoma to identify the specific rearrangement of NUT gene is useful to propose the optimal therapeutic strategy.
Authors: Huiying Wang; Vivian L Weiss; Robert D Hoffman; Ty Abel; Richard H Ho; Scott C Borinstein; Kyle Mannion; Julia A Bridge; Jennifer Black; Jiancong Liang Journal: Head Neck Pathol Date: 2020-02-19
Authors: Brendan C Dickson; Yun-Shao Sung; Marc K Rosenblum; Victor E Reuter; Mohammed Harb; Jay S Wunder; David Swanson; Cristina R Antonescu Journal: Am J Surg Pathol Date: 2018-05 Impact factor: 6.394
Authors: Anne C McLean-Holden; Samantha A Moore; Jeffrey Gagan; Christopher A French; David Sher; John M Truelson; Justin A Bishop Journal: Head Neck Pathol Date: 2020-09-12