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Massively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma.
Oncotarget. 2017 Jul 18; 8(29):47547-47554.O

Abstract

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.

Authors+Show Affiliations

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

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

28533481

Citation

Wu, Ren-Chin, et al. "Massively Parallel Sequencing and Genome-wide Copy Number Analysis Revealed a Clonal Relationship in Benign Metastasizing Leiomyoma." Oncotarget, vol. 8, no. 29, 2017, pp. 47547-47554.
Wu RC, Chao AS, Lee LY, et al. Massively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma. Oncotarget. 2017;8(29):47547-47554.
Wu, R. C., Chao, A. S., Lee, L. Y., Lin, G., Chen, S. J., Lu, Y. J., Huang, H. J., Yen, C. F., Han, C. M., Lee, Y. S., Wang, T. H., & Chao, A. (2017). Massively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma. Oncotarget, 8(29), 47547-47554. https://doi.org/10.18632/oncotarget.17708
Wu RC, et al. Massively Parallel Sequencing and Genome-wide Copy Number Analysis Revealed a Clonal Relationship in Benign Metastasizing Leiomyoma. Oncotarget. 2017 Jul 18;8(29):47547-47554. PubMed PMID: 28533481.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Massively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma. AU - Wu,Ren-Chin, AU - Chao,An-Shine, AU - Lee,Li-Yu, AU - Lin,Gigin, AU - Chen,Shu-Jen, AU - Lu,Yen-Jung, AU - Huang,Huei-Jean, AU - Yen,Chi-Feng, AU - Han,Chien Min, AU - Lee,Yun-Shien, AU - Wang,Tzu-Hao, AU - Chao,Angel, PY - 2017/03/28/received PY - 2017/04/26/accepted PY - 2017/5/24/pubmed PY - 2018/4/24/medline PY - 2017/5/24/entrez KW - benign metastasizing leiomyoma KW - clonality KW - massively parallel sequencing KW - molecular inversion probe array SP - 47547 EP - 47554 JF - Oncotarget JO - Oncotarget VL - 8 IS - 29 N2 - 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. SN - 1949-2553 UR - https://www.unboundmedicine.com/medline/citation/28533481/Massively_parallel_sequencing_and_genome_wide_copy_number_analysis_revealed_a_clonal_relationship_in_benign_metastasizing_leiomyoma_ L2 - http://www.impactjournals.com/oncotarget/misc/linkedout.php?pii=17708 DB - PRIME DP - Unbound Medicine ER -