Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy

Summary, in English

Background: Poorly differentiated midline carcinoma with a translocation between chromosomes 15 and 19, i.e. t(15; 19), has been recognized as a distinct clinical entity for over a decade. This tumor affects young individuals, shows a rapidly fatal clinical course despite intensive therapy. The t( 15; 19) results in the fusion oncogene BRD4-NUT. Information concerning treatment of this rare disorder is scarce. Case presentation: A 30-year-old woman was admitted with a rapidly progressing tumor in the mediastinum, cervical lymph nodes, vertebral column and the epidural space. Pathological, cytogenetic, FISH and PCR analysis revealed a glycogenated carcinoma rarely expressing cytokeratins and showing t( 15; 19) and BRD4-NUT gene rearrangement. The patient was initially treated with a Ewing sarcoma chemotherapy regimen, but had rapid progression after two cycles. She then received docetaxel and radiotherapy, which resulted in almost complete disappearance of the tumor. Conclusion: Docetaxel may be considered for initial chemotherapy in young patients presenting with a midline carcinoma with bone marrow involvement and cytogenetic and molecular genetic finding of a t( 15; 19)/BRD4-NUT-rearrangement. We herein describe, in detail, the laboratory methods by which the BRD4-NUT-rearrangement can be detected.

• Author: Jens Engleson; Maria Soller; Ioannis Panagopoulos; A Dahlen; Michael Dictor; Mats Jerkeman
• Department/s: Breastcancer-genetics; Division of Clinical Genetics; Tumor microenvironment
• Publishing year: 2006
• Language: English
• Publication/Series: BMC Cancer
• Volume: 6
• Links: http://dx.doi.org/10.1186/1471-2407-6-69
• Document type: Journal article
• Publisher: BioMed Central (BMC)
• Topic: Cancer and Oncology
• Status: Published
• ISBN/ISSN/Other: ISSN: 1471-2407