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

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 ev... Full description

Journal Title: Oncotarget 18 July 2017, Vol.8(29), pp.47547-47554
Main Author: Wu, Ren-Chin
Other Authors: Chao, An-Shine , Lee, Li-Yu , Lin, Gigin , Chen, Shu-Jen , Lu, Yen-Jung , Huang, Huei-Jean , Yen, Chi-Feng , Han, Chien Min , Lee, Yun-Shien , Wang, Tzu-Hao , Chao, Angel
Format: Electronic Article Electronic Article
Language: English
Subjects:
ID: E-ISSN: 1949-2553 ; PMID: 28533481 Version:1 ; DOI: 10.18632/oncotarget.17708
Link: http://pubmed.gov/28533481
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recordid: medline28533481
title: Massively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma
format: Article
creator:
  • Wu, Ren-Chin
  • Chao, An-Shine
  • Lee, Li-Yu
  • Lin, Gigin
  • Chen, Shu-Jen
  • Lu, Yen-Jung
  • Huang, Huei-Jean
  • Yen, Chi-Feng
  • Han, Chien Min
  • Lee, Yun-Shien
  • Wang, Tzu-Hao
  • Chao, Angel
subjects:
  • Benign Metastasizing Leiomyoma
  • Clonality
  • Massively Parallel Sequencing
  • Molecular Inversion Probe Array
  • Clonal Evolution
  • DNA Copy Number Variations
  • Genome-Wide Association Study
  • High-Throughput Nucleotide Sequencing
  • Leiomyoma -- Genetics
ispartof: Oncotarget, 18 July 2017, Vol.8(29), pp.47547-47554
description: 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...
language: eng
source:
identifier: E-ISSN: 1949-2553 ; PMID: 28533481 Version:1 ; DOI: 10.18632/oncotarget.17708
fulltext: fulltext
issn:
  • 19492553
  • 1949-2553
url: Link


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titleMassively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma
creatorWu, Ren-Chin ; Chao, An-Shine ; Lee, Li-Yu ; Lin, Gigin ; Chen, Shu-Jen ; Lu, Yen-Jung ; Huang, Huei-Jean ; Yen, Chi-Feng ; Han, Chien Min ; Lee, Yun-Shien ; Wang, Tzu-Hao ; Chao, Angel
ispartofOncotarget, 18 July 2017, Vol.8(29), pp.47547-47554
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subjectBenign Metastasizing Leiomyoma ; Clonality ; Massively Parallel Sequencing ; Molecular Inversion Probe Array ; Clonal Evolution ; DNA Copy Number Variations ; Genome-Wide Association Study ; High-Throughput Nucleotide Sequencing ; Leiomyoma -- Genetics
descriptionBenign 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...
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titleMassively parallel sequencing and genome-wide copy number analysis revealed a clonal relationship in benign metastasizing leiomyoma
descriptionBenign 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...
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abstractBenign 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...
doi10.18632/oncotarget.17708
pmid28533481
date2017-07-18