1. Identification of genomic copy number variations in lung benign metastasizing leiomyomatosis.
- Author
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Hernández-Plata E, Velázquez-Wong AC, Jiménez-Ramírez C, Fernández-Ramírez F, Galicia-Sánchez LM, Flores-García CA, Hernández-Hernández JM, Rosas-Vargas H, Huicochea-Montiel JC, and Espinosa-Poblano E
- Subjects
- Adult, Epigenomics, Female, Humans, Karyotype, Leiomyomatosis diagnostic imaging, Leiomyomatosis pathology, Leiomyomatosis surgery, Lung Neoplasms diagnostic imaging, Lung Neoplasms secondary, Lung Neoplasms surgery, Myoma complications, Myoma pathology, Myoma surgery, Neoplasm Metastasis pathology, Neoplasms etiology, Neoplasms genetics, Neoplasms pathology, Neoplastic Cells, Circulating metabolism, Risk Factors, Thoracoscopy methods, Tomography, X-Ray Computed methods, Uterine Neoplasms genetics, Uterine Neoplasms pathology, Uterine Neoplasms secondary, DNA Copy Number Variations genetics, Genomics methods, Leiomyomatosis genetics, Lung Neoplasms pathology
- Abstract
Objectives: Lung metastasizing leiomyomatosis (LML) is an infrequently diagnosed pathology developed after sexual maturation, commonly preceded by uterine myomas. Symptoms can include difficulties to breathe, cough, dyspnea and pain, because of mechanical obstruction exerted by expanding local growing leiomyomas. Lung leiomyomas are normally detected by imaging studies, but nowadays the precise diagnosis demands histological characterization of biopsies obtained from the affected tissues. The purpose of the present study was to determine the presence of genomic alterations in circulating cells of LML., Methods: Immunohistochemical characterization of a lung biopsy extracted by thoracoscopy was performed. Pathologic proliferative smooth muscle cells were observed in a major lung metastasizing nodule, with a growing pattern similar to a uterine myoma. The presence of cellular linages different to smooth muscle cells was discarded by testing the presence of a battery of molecular markers. Also, a normal karyotype was determine by GTG-banding cytogenetic study, but a high density microarray analysis revealed six submicroscopic chromosomal regions displaying genomic abnormalities: microduplications were detected on chromosomes 4, 14, 17 and 22; and microdeletions on chromosomes 8 and 10., Conclusion: This study remarks the relevance of submicroscopic chromosomal analysis of unusual pathologic conditions such as Benign Metastasizing Leiomyomatosis. This propitiate a better understanding of the molecular basis on the development of the pathology, in order to reckon on minimally invasive diagnostic methods, and to design appropriate treatments., (© 2018 John Wiley & Sons Ltd.)
- Published
- 2019
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