Engleson, J;
Soller, M;
Panagopoulos, I;
Dahlen, A;
Dictor, M;
Jerkeman, M;
(2006)
Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy.
BMC Cancer
, 6
, Article 69. 10.1186/1471-2407-6-69.
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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.
| Type: | Article |
|---|---|
| Title: | Midline carcinoma with t(15;19) and BRD4-NUT fusion oncogene in a 30-year-old female with response to docetaxel and radiotherapy |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1186/1471-2407-6-69 |
| Publisher version: | http://dx.doi.org/10.1186/1471-2407-6-69 |
| Language: | English |
| Additional information: | © 2006 Engleson et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
| Keywords: | Adult, Antineoplastic Combined Chemotherapy Protocols, Back Pain, Carcinoma, Chromosomes, Human, Pair 15, Chromosomes, Human, Pair 19, Combined Modality Therapy, Epidural Space, Fatal Outcome, Female, Humans, In Situ Hybridization, Fluorescence, Lymphatic Metastasis, Mediastinal Neoplasms, Nuclear Proteins, Oncogene Proteins, Fusion, Polymerase Chain Reaction, Remission Induction, Respiratory Insufficiency, Sepsis, Spinal Neoplasms, Translocation, Genetic, Weight Loss |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences |
| URI: | https://discovery.ucl.ac.uk/id/eprint/1312873 |
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