Metastasizing vulvar carcinosarcoma with squamous carcinomatous and leiomyosarcomatous differentiation: genetic evidence of clonal origin

• Published in: Human pathology Vol. 36; no. 10; pp. 1143 - 1147
• Main Authors: Adam, Patrick, Zettl, Andreas, Zollner, Ursula, Dietl, Johannes, Müller-Hermelink, Hans Konrad, Eck, Matthias
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 01-10-2005; Elsevier; Elsevier Limited
• Subjects: Aged; Biological and medical sciences; Biomarkers, Tumor - metabolism; Carbocyanines; Carcinoma, Squamous Cell - metabolism; Carcinoma, Squamous Cell - pathology; Carcinosarcoma - genetics; Carcinosarcoma - metabolism; Carcinosarcoma - pathology; Carcinosarcoma - surgery; Cell cycle; Cell Differentiation; CGH; Chromosome Aberrations; Chromosomes; Chromosomes, Human, Pair 12; Clonal origin; Clone Cells - pathology; DNA, Neoplasm - genetics; Eosine Yellowish-(YS); Fatal Outcome; Female; Fluorescein-5-isothiocyanate; Fluorescent Dyes; Genomes; Hematoxylin; Humans; Immunohistochemistry; In Situ Hybridization; Indoles; Investigative techniques, diagnostic techniques (general aspects); Leiomyosarcoma - metabolism; Leiomyosarcoma - pathology; Lymph Node Excision; Lymphatic Metastasis; Medical sciences; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques; Skin cancer; Smooth muscle; Staining and Labeling; Tumors; Vulvar carcinosarcoma; Vulvar Neoplasms - genetics; Vulvar Neoplasms - metabolism; Vulvar Neoplasms - pathology; Vulvar Neoplasms - surgery; Germany; CGH; Clonal origin; Vulvar carcinosarcoma; Origin; Anatomic pathology; Genetics; Vulva; Malignant tumor; Metastasis; Differentiation; Gene expression; Spindle cell carcinoma
• ISSN: 0046-8177; 1532-8392
• DOI: 10.1016/j.humpath.2005.07.007

In this report, we present the first case of a vulvar carcinosarcoma with squamous carcinomatous and leiomyosarcomatous differentiation. Comparative genomic hybridization was used to analyze clonality of the two tumor components. A widely identical pattern of genetic imbalances in the comparative genomic hybridization analysis in both the carcinomatous and the sarcomatous tumor component strongly supported the concept of a bidirectionally differentiated neoplasm. In both tumor components and two lymph node metastases, an amplicon was detected on chromosome 11q12-q13, homing the cyclin D1 gene locus. In contrast, exclusively in the sarcomatoid component, a characteristic amplicon on 12q13-q14 was found. The cytogenetic profile of the lymph node metastases revealed an increase in imbalances compared with the primary tumor. In summary, we found strong indications for a clonal origin of the two tumor components in a vulvar carcinosarcoma and a good correlation of the histological morphology with the pattern of genetic imbalances.