Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in , , and
Uterine leiomyosarcomas are rare, malignant smooth muscle tumors with a poor 5-year survival and high recurrence rate. They account for 1–2% of all uterine malignancies with an estimated incidence of 0.4/100,000 women per year. The symptoms and signs of this tumor type widely overlap with those of common benign uterine leiomyomas, making early diagnosis of uterine leiomyosarcomas difficult. Currently, the diagnosis of these tumors is often incidental and postoperative. Despite previous cytogenetic and molecular studies, their molecular background has remained elusive. Identification of novel molecular genetic characteristics in uterine leiomyosarcomas is clinically relevant to further improve the diagnosis and prognosis of the patients. Here, we performed exome sequencing on 19 tumors, revealing frequent mutations in TP53, ATRX, and MED12. The discovery of frequent inactivating ATRX mutations provides a potential novel therapeutic target for uterine leiomyosarcomas.
Vyšlo v časopise:
Exome Sequencing of Uterine Leiomyosarcomas Identifies Frequent Mutations in , , and. PLoS Genet 12(2): e32767. doi:10.1371/journal.pgen.1005850
Kategorie:
Research Article
prolekare.web.journal.doi_sk:
https://doi.org/10.1371/journal.pgen.1005850
Souhrn
Uterine leiomyosarcomas are rare, malignant smooth muscle tumors with a poor 5-year survival and high recurrence rate. They account for 1–2% of all uterine malignancies with an estimated incidence of 0.4/100,000 women per year. The symptoms and signs of this tumor type widely overlap with those of common benign uterine leiomyomas, making early diagnosis of uterine leiomyosarcomas difficult. Currently, the diagnosis of these tumors is often incidental and postoperative. Despite previous cytogenetic and molecular studies, their molecular background has remained elusive. Identification of novel molecular genetic characteristics in uterine leiomyosarcomas is clinically relevant to further improve the diagnosis and prognosis of the patients. Here, we performed exome sequencing on 19 tumors, revealing frequent mutations in TP53, ATRX, and MED12. The discovery of frequent inactivating ATRX mutations provides a potential novel therapeutic target for uterine leiomyosarcomas.
Zdroje
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Štítky
Genetika Reprodukčná medicínaČlánok vyšiel v časopise
PLOS Genetics
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