Translocation (11;15;19): a highly specific chromosome rearrangement associated with poorly differentiated thymic carcinoma in young patients.
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.
Toretsky
Jeffrey A
JA
Department of Pediatrics, University of Maryland School of Medicine, Baltimore, Maryland, USA
Jenson
James
J
Sun
Chen-Chih
CC
Eskenazi
Allen E
AE
Campbell
Andrew
A
Hunger
Stephen P
SP
Caires
Aimee
A
Frantz
Christopher
C
Hill
J Laurance
JL
Stamberg
Judith
J
D000293:Adolescent; D001859:Bone Neoplasms / Q000235:genetics / Q000473:pathology / Q000556:secondary*; D002294:Carcinoma, Squamous Cell / Q000235:genetics* / Q000473:pathology / Q000556:secondary*; D002878:Chromosomes, Human, Pair 1; D002880:Chromosomes, Human, Pair 11; D002884:Chromosomes, Human, Pair 15; D002888:Chromosomes, Human, Pair 19; D020732:Cytogenetic Analysis; D017809:Fatal Outcome; D006801:Humans; D007150:Immunohistochemistry; D007621:Karyotyping; D008297:Male; D013953:Thymus Neoplasms / Q000235:genetics* / Q000473:pathology*; D014178:Translocation, Genetic