In 2013, The Cancer Genome Atlas (TCGA) Research Network found four novel prognostic subgroups of endometrial carcinoma: POLE/ultramutated (POLE), microsatellite-instable/hypermutated (MSI), copy-number-low/TP53-wild-type (CNL), and copy-number-highTP53-mutant (CNH). However, poor is known regarding uncommon histotypes of endometrial cancer. We aimed to assess the genetic profile of uterine carcinosarcoma (UCS) on the light of these findings. A systematic review and meta-analysis was performed through electronic databases searching (up to July 2019). All studies assessing UCS series for the TCGA classification were included. For each TCGA subgroup, pooled prevalence on the total UCS number was calculated. Four studies with 231 patients were included. Pooled prevalence of the TCGA subgroups were: 5.3% for the POLE subgroup, 7.3% for the MSI subgroup, 73.9% for the CNH subgroup, 13.5% for the CNL subgroup. The CNH subgroup predominates in UCS, while subgroups with high mutational load (POLE and MSI) are less common. UCS appears as a preferential evolution of CNH carcinomas.

TCGA Classification of Endometrial Cancer: the Place of Carcinosarcoma

Mollo A.;
2020-01-01

Abstract

In 2013, The Cancer Genome Atlas (TCGA) Research Network found four novel prognostic subgroups of endometrial carcinoma: POLE/ultramutated (POLE), microsatellite-instable/hypermutated (MSI), copy-number-low/TP53-wild-type (CNL), and copy-number-highTP53-mutant (CNH). However, poor is known regarding uncommon histotypes of endometrial cancer. We aimed to assess the genetic profile of uterine carcinosarcoma (UCS) on the light of these findings. A systematic review and meta-analysis was performed through electronic databases searching (up to July 2019). All studies assessing UCS series for the TCGA classification were included. For each TCGA subgroup, pooled prevalence on the total UCS number was calculated. Four studies with 231 patients were included. Pooled prevalence of the TCGA subgroups were: 5.3% for the POLE subgroup, 7.3% for the MSI subgroup, 73.9% for the CNH subgroup, 13.5% for the CNL subgroup. The CNH subgroup predominates in UCS, while subgroups with high mutational load (POLE and MSI) are less common. UCS appears as a preferential evolution of CNH carcinomas.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11386/4766676
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