Department of Pathology, University Medical Center Göttingen, Robert-Koch-Straße 40, D-37075 Göttingen, Germany.
BMC Cancer. 2012 Sep 25;12:424. doi: 10.1186/1471-2407-12-424.
Pulmonary carcinosarcoma is a biphasic tumour with an unfavourable prognosis. The differential diagnosis includes pulmonary blastoma and is often challenging.
We here describe a case of blastomatoid pulmonary carcinosarcoma in a 58-year-old patient, who underwent surgical resection. Histopathological examination revealed immature glandular epithelium resembling high-grade fetal adenocarcinoma expressing epithelial markers and membranous beta-catenin, and blastomatoid spindle cells with partial rhabdomyosarcoma-like differentiation. Both elements expressed p53, MDM2, and cyclin-dependent kinase 4 (CDK4), but not thyroid-transcription factor 1 (TTF-1). Mutation analysis of KRAS, EGFR, and beta-catenin revealed no mutations. Comparative genomic hybridization detected +1q, +6p, +6q24qter, +8q, +11q12q14, +11q23qter, +12q12q21, +12q24qter, +17q, +20q, -5q14q23, -9p13pter, -13q21q21, and amplifications at 12q14q21, 15q24qter, 20q11q12.
The observed molecular and cytogenetic findings may provide additional tools for the differential diagnosis of biphasic pulmonary neoplasms. Furthermore, TP53, MDM2, CDK4, and PTPN1 may be involved in tumourigenesis.
肺癌肉瘤是一种预后不良的双相肿瘤。其鉴别诊断包括肺胚细胞瘤，且常常具有挑战性。
我们在此描述了一例 58 岁患者的胚瘤样肺癌肉瘤，该患者接受了手术切除。组织病理学检查显示，不成熟的腺上皮类似于高分化胎儿腺癌，表达上皮标志物和膜型β-连环蛋白，以及胚瘤样梭形细胞，具有部分横纹肌肉瘤样分化。这两种成分均表达 p53、MDM2 和细胞周期蛋白依赖性激酶 4（CDK4），但不表达甲状腺转录因子 1（TTF-1）。KRAS、EGFR 和β-连环蛋白的突变分析未发现突变。比较基因组杂交检测到 +1q、+6p、+6q24qter、+8q、+11q12q14、+11q23qter、+12q12q21、+12q24qter、+17q、+20q、-5q14q23、-9p13pter、-13q21q21 和 12q14q21、15q24qter、20q11q12 处的扩增。
观察到的分子和细胞遗传学发现可能为双相肺肿瘤的鉴别诊断提供额外的工具。此外，TP53、MDM2、CDK4 和 PTPN1 可能参与肿瘤发生。
