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

Jens Engleson, Maria Soller, Ioannis Panagopoulos, A Dahlen, Michael Dictor, Mats Jerkeman

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59 Citations (SciVal)

Abstract

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.
Original languageEnglish
JournalBMC Cancer
Volume6
DOIs
Publication statusPublished - 2006

Bibliographical note

The information about affiliations in this record was updated in December 2015.
The record was previously connected to the following departments: Division of Clinical Genetics (013022003), Pathology, (Lund) (013030000), Oncology, MV (013035000)

Subject classification (UKÄ)

  • Cancer and Oncology

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