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. 2006 Mar 16;6:69. doi: 10.1186/1471-2407-6-69.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use*
  • Back Pain / etiology
  • Carcinoma / drug therapy
  • Carcinoma / genetics*
  • Carcinoma / radiotherapy
  • Carcinoma / secondary
  • Chromosomes, Human, Pair 15 / genetics*
  • Chromosomes, Human, Pair 15 / ultrastructure
  • Chromosomes, Human, Pair 19 / genetics*
  • Chromosomes, Human, Pair 19 / ultrastructure
  • Combined Modality Therapy
  • Epidural Space
  • Fatal Outcome
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphatic Metastasis
  • Mediastinal Neoplasms / drug therapy
  • Mediastinal Neoplasms / genetics*
  • Mediastinal Neoplasms / radiotherapy
  • Nuclear Proteins / genetics*
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction
  • Remission Induction
  • Respiratory Insufficiency / etiology
  • Sepsis / etiology
  • Spinal Neoplasms / drug therapy
  • Spinal Neoplasms / radiotherapy
  • Spinal Neoplasms / secondary
  • Translocation, Genetic*
  • Weight Loss

Substances

  • BRD4-NUT fusion oncogene protein, human
  • Nuclear Proteins
  • Oncogene Proteins, Fusion