Translocation (11;15;19): A highly specific chromosome rearrangement associated with poorly differentiated thymic carcinoma in young patients

Jeffrey A. Toretsky, James Jenson, Chen Chih Sun, Allen E. Eskenazi, Andrew Campbell, Stephen P. Hunger, Aimee Caires, Christopher Frantz, J. Laurance Hill, Judith Stamberg

Research output: Contribution to journalArticlepeer-review

Abstract

Thymic carcinoma is a rare epithelial neoplasm of the thymus. The presence of a specific chromosomal abnormality may augment diagnosis and therapeutic stratification. We report a 15-year-old boy diagnosed with thymic carcinoma who presented with a large anterior mediastinal mass, pleural effusion, and bone metastasis. The pleural fluid, cytology, bony lesions, and bone marrow were examined and chromosomal studies were performed. Histologic and immunohistochemical studies confirmed a poorly differentiated squamous cell type of thymic carcinoma. The karyotype of the pleural fluid at the time of diagnosis revealed a complex three-way translocation t(11;15; 19)(p15;q12;p13.3). The constitutional karyotype was 46,XY. Five months after diagnosis, a bone marrow aspirate demonstrated tetraploidy with all translocation chromosomes in duplicate, as well as an unbalanced rearrangement involving chromosome 1: 92,XXYY,t(11;15;19)(p15;q12;p13.3)×2[15]/92,XXYY,idem,add(1)(qter)[5]. Despite aggressive multiagent chemotherapy, the patient's condition progressed with bone marrow disease and he died 6 months after diagnosis. Several case reports of a similar chromosomal abnormality have been reported for thymic carcinoma in young patients with poor outcome. This karyotypic abnormality appears to mark a cohort of patients with thymic carcinoma who have a poor prognosis despite aggressive chemotherapy.

Original languageEnglish (US)
Pages (from-to)300-306
Number of pages7
JournalAmerican Journal of Clinical Oncology: Cancer Clinical Trials
Volume26
Issue number3
DOIs
StatePublished - Jun 2003

Keywords

  • Mediastinal mass
  • Thymic carcinoma
  • Thymic tumor cytogenetics
  • Translocation (11,15,19)

ASJC Scopus subject areas

  • Oncology
  • Cancer Research

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