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


METHODS
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.


CONCLUSIONS
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.
Engleson
Jens
J
Department of Oncology, Lund University Hospital, SE-221 85, Lund, Sweden. jens.engleson@skane.se
Soller
Maria
M
Panagopoulos
Ioannis
I
Dahlén
Anna
A
Dictor
Michael
M
Jerkeman
Mats
M
D000328:Adult; D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use*; D001416:Back Pain / Q000209:etiology; D002277:Carcinoma / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy / Q000556:secondary; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics* / Q000648:ultrastructure; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics* / Q000648:ultrastructure; D003131:Combined Modality Therapy; D004824:Epidural Space; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008207:Lymphatic Metastasis; D008479:Mediastinal Neoplasms / Q000188:drug therapy / Q000235:genetics* / Q000532:radiotherapy; D009687:Nuclear Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012074:Remission Induction; D012131:Respiratory Insufficiency / Q000209:etiology; D018805:Sepsis / Q000209:etiology; D013125:Spinal Neoplasms / Q000188:drug therapy / Q000532:radiotherapy / Q000556:secondary; D014178:Translocation, Genetic; D015431:Weight Loss
C471990:BRD4-NUT fusion oncogene protein, human; D009687:Nuclear Proteins; D015514:Oncogene Proteins, Fusion