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Identification of genomic copy number variations in lung benign metastasizing leiomyomatosis

The Clinical Respiratory Journal Feb 02, 2019

Hernández-Plata E, et al. - Researchers investigated the presence of genomic alterations in circulating cells of lung metastasizing leiomyomatosis (LML). They carried out immunohistochemical characterization of a lung biopsy extracted by thoracoscopy. In a major lung metastasizing nodule demonstrating a growing pattern similar to a uterine myoma, they observed pathologic proliferative smooth muscle cells. They tested the presence of a battery of molecular markers and discarded the presence of cellular linages different to smooth muscle cells. GTG-banding cytogenetic study was used to determine a normal karyotype. Six submicroscopic chromosomal regions showing genomic abnormalities: microduplications were detected on chromosomes 4, 14, 17 and 22; and microdeletions on chromosomes 8 and 10, were discovered in a high density microarray analysis. Findings highlighted that submicroscopic chromosomal analysis of unusual pathologic conditions such as Benign Metastasizing Leiomyomatosis was relevant.
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