Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma
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 patients 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 therapyRESUMEN
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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/Peoples Republic of China
/
Zhejiang Provincial Peoples Hospital/Peoples Republic of China