Translocation (11;15;19): a Highly Specific Chromosome... : American Journal of Clinical Oncology (original) (raw)

Article

Translocation (11;15;19): a Highly Specific Chromosome Rearrangement Associated With Poorly Differentiated Thymic Carcinoma in Young Patients

Toretsky, Jeffrey A. M.D.; Jenson, James M.D.; Sun, Chen-Chih M.D.; Eskenazi, Allen E. M.D.; Campbell, Andrew M.D.; Hunger, Stephen P. M.D.; Caires, Aimee B.S.; Frantz, Christopher M.D.; Hill, J Laurance M.D.; Stamberg, Judith Ph.D.

From the Departments of Pediatrics (J.A.T., J.J., A.E.E., C.F.), Pathology (C-C. S., J.S.), and Surgery (J.L.H.), University of Maryland School of Medicine; Department of Radiology (A.C.), the Johns Hopkins University School of Medicine, Baltimore, Maryland; and the Department of Pediatrics (S.P.H., A.C.), University of Colorado Health Sciences Center, Denver Colorado, U.S.A.

Supported by the Children’s Cancer Foundation, Baltimore, Maryland, the Lowenstern Family Foundation, and the National Institute of Health, NIH#: CA88004-01. J.A.T. received a Young Investigator Award from the American Society of Clinical Oncology. S.P.H. is a Translational Research Grantee of the Leukemia and Lymphoma Society.

Address correspondence and reprint requests to Dr. Judith Stamberg, Department of Pathology, University of Maryland Medical Center, 10 S. Pine Street, MSTF 7-34, Baltimore, MD 21201, U.S.A.

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.