Blastomatoid pulmonary carcinosarcoma: report of a case with a review of the literature

• Main Authors: Schaefer Inga-Marie, Sahlmann Carsten-Oliver, Overbeck Tobias, Schweyer Stefan, Menke Jan
• Format: Article
• Language: English
• Published: BMC 2012-09-01
• Series: BMC Cancer
• Subjects: Lung; biphasic, Carcinosarcoma, Pulmonary blastoma, Comparative genomic hybridization
• Online Access: http://www.biomedcentral.com/1471-2407/12/424
• ISSN: 1471-2407

<p>Abstract</p> <p>Background</p> <p>Pulmonary carcinosarcoma is a biphasic tumour with an unfavourable prognosis. The differential diagnosis includes pulmonary blastoma and is often challenging.</p> <p>Case presentation</p> <p>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 <it>KRAS</it>, <it>EGFR</it>, and <it>beta-catenin</it> 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.</p> <p>Conclusion</p> <p>The observed molecular and cytogenetic findings may provide additional tools for the differential diagnosis of biphasic pulmonary neoplasms. Furthermore, <it>TP53</it>, <it>MDM2</it>, <it>CDK4</it>, and <it>PTPN1</it> may be involved in tumourigenesis.</p>