Translocation (11;15;19): a Highly Specific Chromosome Rearrangement Associated With Poorly Differentiated Thymic Carcinoma in Young Patients
| Autor: | Judith Stamberg, Chen Chih Sun, Jeffrey A. Toretsky, Allen E. Eskenazi, Andrew B. Campbell, Stephen P. Hunger, Christopher N. Frantz, James Jenson, J. Laurance Hill, Aimee Caires |
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| Rok vydání: | 2003 |
| Předmět: |
Male
Cancer Research Pathology medicine.medical_specialty Adolescent Pleural effusion Bone Neoplasms Chromosomal translocation Translocation Genetic Fatal Outcome Carcinoma Humans Medicine Thymic carcinoma NUT midline carcinoma Chromosomes Human Pair 15 business.industry Chromosomes Human Pair 11 Bone metastasis Karyotype Thymus Neoplasms medicine.disease Immunohistochemistry medicine.anatomical_structure Oncology Chromosomes Human Pair 1 Karyotyping Cytogenetic Analysis Carcinoma Squamous Cell Bone marrow business Chromosomes Human Pair 19 |
| Zdroj: | American Journal of Clinical Oncology. 26:300-306 |
| ISSN: | 0277-3732 |
| Popis: | 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)x2[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. |
| Databáze: | OpenAIRE |
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