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Oncotarget. 2017 Jul 18;8(29):47547-47554. doi: 10.18632/oncotarget.17708.

Massively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma.

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Department of Pathology, Chang Gung Memorial Hospital and Chang Gung University, Linkou Medical Center, Taoyuan, Taiwan.
Department of Obstetrics and Gynecology, Chang Gung Memorial Hospital and Chang Gung University, Linkou Medical Center, Taoyuan, Taiwan.
Department of Medical Imaging and Intervention, Clinical Phenome Center, Chang Gung Memorial Hospital and Institute for Radiological Research, Chang Gung University, Linkou Medical Center, Taoyuan, Taiwan.
ACT Genomics, Co. Ltd., Taipei City, Taiwan.
Gynecologic Cancer Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.
Department of Biotechnology, Ming-Chuan University, Taoyuan, Taiwan.


Benign metastasizing leiomyoma (BML) is a rare disease entity typically presenting as multiple extrauterine leiomyomas associated with a uterine leiomyoma. It has been hypothesized that the extrauterine leiomyomata represent distant metastasis of the uterine leiomyoma. To date, the only molecular evidence supporting this hypothesis was derived from clonality analyses based on X-chromosome inactivation assays. Here, we sought to address this issue by examining paired specimens of synchronous pulmonary and uterine leiomyomata from three patients using targeted massively parallel sequencing and molecular inversion probe array analysis for detecting somatic mutations and copy number aberrations. We detected identical non-hot-spot somatic mutations and similar patterns of copy number aberrations (CNAs) in paired pulmonary and uterine leiomyomata from two patients, indicating the clonal relationship between pulmonary and uterine leiomyomata. In addition to loss of chromosome 22q found in the literature, we identified additional recurrent CNAs including losses of chromosome 3q and 11q. In conclusion, our findings of the clonal relationship between synchronous pulmonary and uterine leiomyomas support the hypothesis that BML represents a condition wherein a uterine leiomyoma disseminates to distant extrauterine locations.


benign metastasizing leiomyoma; clonality; massively parallel sequencing; molecular inversion probe array

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