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Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma.
Clin Transl Oncol. 2018 Aug; 20(8):1080-1086.CT

Abstract

PURPOSE

Pulmonary benign metastasizing leiomyoma (PBML), a rare condition of smooth muscle tumor, originates from women with a history of uterine leiomyoma (LM). Numerous genetic studies of uterine LM have been reported; however, there are few cytogenetic and molecular descriptions of PBML. Therefore, molecular subtyping is necessary to understand the pathogenesis of metastasizing sites.

METHODS

Driver gene exon-capture sequencing was performed on one patient's peripheral blood, paraffin samples from primary uterine LM, and lung metastasizing leiomyoma 8 years later.

RESULTS

The results showed that the same missense mutations of BLMH, LRP2, MED12, SMAD2, and UGT1A8 were concurrently mutated in the primary uterine LM and the PBML. Moreover, a splice mutation of PTEN (c.492+1G>A) was uniquely identified in the lung metastasis of the patient.

CONCLUSION

This study indicates that the metastatic lung lesions were derived from the same malignant cell clone of uterine LMs and later acquired the novel driver mutations in the evolution of the tumor. In addition, driver gene sequencing can discriminate somatic driver mutations as biological indicators of potential malignant leiomyoma and can identify pathogenic variation driver mutations, which could be used for individualized therapy.

Authors+Show Affiliations

Department of Second Clinical Medical College, Zhejiang Chinese Medical University, Hangzhou, 310000, Zhejiang, People's Republic of China.Department of Medical Oncology, The First Affiliated Hospital, College of Medicine, Zhejiang University, Hangzhou, 310014, Zhejiang, People's Republic of China.Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang Province, Key Laboratory of Gastroenterology of Zhejiang Province, Zhejiang Provincial People's Hospital, Shang Tang Road 158, Hangzhou, 310014, Zhejiang, People's Republic of China. huxiaoge2008xmu@163.com.Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang Province, Key Laboratory of Gastroenterology of Zhejiang Province, Zhejiang Provincial People's Hospital, Shang Tang Road 158, Hangzhou, 310014, Zhejiang, People's Republic of China. davenc@163.com. Department of Thyroid and Breast Surgery, Zhejiang Provincial People's Hospital, Hangzhou, 310014, Zhejiang, People's Republic of China. davenc@163.com.Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine of Zhejiang Province, Key Laboratory of Gastroenterology of Zhejiang Province, Zhejiang Provincial People's Hospital, Shang Tang Road 158, Hangzhou, 310014, Zhejiang, People's Republic of China. yangliuqq2003@163.com.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

29484624

Citation

Jiang, J, et al. "Deep Sequencing Reveals the Molecular Pathology Characteristics Between Primary Uterine Leiomyoma and Pulmonary Benign Metastasizing Leiomyoma." Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, vol. 20, no. 8, 2018, pp. 1080-1086.
Jiang J, He M, Hu X, et al. Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma. Clin Transl Oncol. 2018;20(8):1080-1086.
Jiang, J., He, M., Hu, X., Ni, C., & Yang, L. (2018). Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma. Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 20(8), 1080-1086. https://doi.org/10.1007/s12094-018-1847-y
Jiang J, et al. Deep Sequencing Reveals the Molecular Pathology Characteristics Between Primary Uterine Leiomyoma and Pulmonary Benign Metastasizing Leiomyoma. Clin Transl Oncol. 2018;20(8):1080-1086. PubMed PMID: 29484624.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma. AU - Jiang,J, AU - He,M, AU - Hu,X, AU - Ni,C, AU - Yang,L, Y1 - 2018/02/26/ PY - 2018/02/09/received PY - 2018/02/15/accepted PY - 2018/2/28/pubmed PY - 2018/11/9/medline PY - 2018/2/28/entrez KW - Benign metastasizing leiomyoma KW - Driver gene KW - Targeted deep sequencing KW - Uterine leiomyoma SP - 1080 EP - 1086 JF - Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico JO - Clin Transl Oncol VL - 20 IS - 8 N2 - PURPOSE: Pulmonary benign metastasizing leiomyoma (PBML), a rare condition of smooth muscle tumor, originates from women with a history of uterine leiomyoma (LM). Numerous genetic studies of uterine LM have been reported; however, there are few cytogenetic and molecular descriptions of PBML. Therefore, molecular subtyping is necessary to understand the pathogenesis of metastasizing sites. METHODS: Driver gene exon-capture sequencing was performed on one patient's peripheral blood, paraffin samples from primary uterine LM, and lung metastasizing leiomyoma 8 years later. RESULTS: The results showed that the same missense mutations of BLMH, LRP2, MED12, SMAD2, and UGT1A8 were concurrently mutated in the primary uterine LM and the PBML. Moreover, a splice mutation of PTEN (c.492+1G>A) was uniquely identified in the lung metastasis of the patient. CONCLUSION: This study indicates that the metastatic lung lesions were derived from the same malignant cell clone of uterine LMs and later acquired the novel driver mutations in the evolution of the tumor. In addition, driver gene sequencing can discriminate somatic driver mutations as biological indicators of potential malignant leiomyoma and can identify pathogenic variation driver mutations, which could be used for individualized therapy. SN - 1699-3055 UR - https://www.unboundmedicine.com/medline/citation/29484624/Deep_sequencing_reveals_the_molecular_pathology_characteristics_between_primary_uterine_leiomyoma_and_pulmonary_benign_metastasizing_leiomyoma_ L2 - https://dx.doi.org/10.1007/s12094-018-1847-y DB - PRIME DP - Unbound Medicine ER -