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Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma
Jiang, J; He, M; Hu, X; Ni, C; Yang, L.
Afiliação
  • Jiang, J; Zhejiang Chinese Medical University. Department of Second Clinical Medical College. Hangzhou. People’s Republic of China
  • Hu, X; Zhejiang Provincial People’s Hospital. Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine. Hangzhou. People’s Republic of China
  • Ni, C; Zhejiang Provincial People’s Hospital. Department of Thyroid and Breast Surgery. Hangzhou. People’s Republic of China
  • Yang, L; Zhejiang Provincial People’s Hospital. Key Laboratory of Tumor Molecular Diagnosis and Individualized Medicine. Hangzhou. People’s Republic of China
Clin. transl. oncol. (Print) ; 20(8): 1080-1086, ago. 2018. ilus, tab
Artigo em Inglês | IBECS | ID: ibc-173692
Biblioteca responsável: ES1.1
Localização: BNCS
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
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Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Neoplasias Uterinas / Leiomioma / Neoplasias Pulmonares / Metástase Neoplásica Tipo de estudo: Estudo prognóstico Limite: Feminino / Humanos Idioma: Inglês Revista: Clin. transl. oncol. (Print) Ano de publicação: 2018 Tipo de documento: Artigo Instituição/País de afiliação: Zhejiang Chinese Medical University/People’s Republic of China / Zhejiang Provincial People’s Hospital/People’s Republic of China
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Coleções: Bases de dados nacionais / Espanha Base de dados: IBECS Assunto principal: Neoplasias Uterinas / Leiomioma / Neoplasias Pulmonares / Metástase Neoplásica Tipo de estudo: Estudo prognóstico Limite: Feminino / Humanos Idioma: Inglês Revista: Clin. transl. oncol. (Print) Ano de publicação: 2018 Tipo de documento: Artigo Instituição/País de afiliação: Zhejiang Chinese Medical University/People’s Republic of China / Zhejiang Provincial People’s Hospital/People’s Republic of China
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