Translocation (11;15;19): a highly specific chromosome rearrangement associated with poorly differentiated thymic carcinoma in young patients.
Translocation (11;15;19): a highly specific chromosome rearrangement associated with poorly differentiated thymic carcinoma in young patients.
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易位 (11;15;19)：一种与年轻患者低分化胸腺癌相关的高度特异性染色体重排。
DOI：
10.1097/01.coc.0000020960.98562.84
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Stamberg,Judith
中科院分区：
文献类型：
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作者：
Toretsky,JeffreyA;Jenson,James;Sun,Chen-Chih;Eskenazi,AllenE;Campbell,Andrew;Hunger,StephenP;Caires,Aimee;Frantz,Christopher;Hill,JLaurance;Stamberg,Judith
胸腺癌是一种罕见的胸腺上皮性肿瘤。特异性染色体异常的存在可增强诊断和治疗分层。我们报告一位十五岁的男孩被诊断为胸腺癌，表现为前纵膈腔巨大肿块、胸腔积液及骨转移。检查胸腔积液、细胞学、骨病变和骨髓，并进行染色体研究。组织学和免疫组化研究证实了低分化鳞状细胞型胸腺癌。诊断时胸水的核型显示复杂的三向易位t（11; 15; 19）（p15; q12; p13。3）。核型为46，XY。诊断后5个月，骨髓穿刺显示四倍体，所有易位染色体一式两份，以及涉及染色体1：92，XXYY，t（11; 15; 19）（p15; q12; p13）的不平衡重排。3）× 2 [15]/92，XXYY，同上，增加（1）（qter）[5]。尽管积极的多药化疗，患者的病情进展与骨髓疾病，他死了6个月后诊断。几例类似的染色体异常的病例报告已报告胸腺癌的年轻患者预后不良。这种核型异常似乎标志着一组胸腺癌患者，尽管进行了积极的化疗，但预后仍很差。
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.