Blastomatoid pulmonary carcinosarcoma: report of a case with a review of the literature
1 Department of Pathology, University Medical Center Göttingen, Robert-Koch-Straße 40, D-37075, Göttingen, Germany
2 Nuclear Medicine, University Medical Center Göttingen, Göttingen, Germany
3 Haematology and Oncology, University Medical Center Göttingen, Göttingen, Germany
4 Diagnostic Radiology, University Medical Center Göttingen, Göttingen, Germany
BMC Cancer 2012, 12:424 doi:10.1186/1471-2407-12-424Published: 25 September 2012
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.