Hernández-Plata Everardo, Velázquez-Wong Ana Claudia, Jiménez-Ramírez Carmina, Fernández-Ramírez Fernando, Galicia-Sánchez Luz María, Flores-García César Antonio, Hernández-Hernández José Manuel, Rosas-Vargas Haydeé, Huicochea-Montiel Juan Carlos, Espinosa-Poblano Eliseo
Unidad de Investigación Médica en Genética Humana, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social IMSS, Ciudad de México, México.
Departamento de Neuropatología Molecular, Instituto de Fisiología Celular, UNAM, Ciudad de México, México.
Clin Respir J. 2019 Feb;13(2):105-113. doi: 10.1111/crj.12987. Epub 2019 Jan 29.
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.
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.
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.
