Array-CGH shows amplification of 8q including MYC as the sole aberration in a leiomyosarcoma of the female lower genital tract.

Leiomyosarcomas (LMS) are uncommon in the female genital tract, and the literature on LMS of the vagina consists mostly of case reports. We report the cytogenetic, FISH and array-CGH findings in a LMS of the vagina. Tumor microscopy showed a cellular spindle cell tumor composed of oval to spindly cells arranged in sheets or fascicles supported by a rich vascular network and stained positive for smooth muscle markers (SMA, HHF35). The majority of metaphase cells from the short-term cultures of tumor cells had 49 chromosomes including 3 copies of a derivative chromosome that consisted in most part of 8q material. The remaining cells had 4 copies of the derivative chromosome. FISH studies showed that each derivative chromosome consisted in its entirety of chromosome 8 material, had 2 copies of MYC and 8qter signals, lacked an 8pter signal, and was devoid of a centromeric alpha satellite or satellite III signal of any of the 24 chromosomes. Strong positive staining for MYC was demonstrated in tumor nuclei. Microarray-CGH study on DNA extracted from the tumor confirmed amplification of 8q12.1∼q22.2 and 8q24.13∼qter, and to a lesser extent 8q22.3∼q24.12, as the sole genetic abnormality in the tumor. The present report, to the best of our knowledge, is the first cytogenetically characterized primary LMS of the vagina, and our findings indicate that amplification of 8q including MYC is a primary genetic abnormality as well as a pathway of evolution in the tumor.