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CHEK2 C1100del mutation associated with papillary renal cell carcinoma type II.

ABSTRACT: CHEK2 mutations have been noted in bone, brain, breast, colon, lung, thyroid, and prostate cancer. Although now reported in both clear cell and non-clear cell renal cancer, we have not found CHEK2 2 mutations reported in the papillary type II subtype (PRCC). Here, we report a 63-year-old female with a PRCC type II with a concomitant CHEK2 C1100del mutation, who is currently in complete remission three years post tumor resection.

SUBMITTER: Lopez SJ

PROVIDER: S-EPMC10504490 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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CHEK2 C1100del mutation associated with papillary renal cell carcinoma type II.

Lopez Santiago J SJ Williams H James HJ Hogan Thomas Francis TF

Urology case reports 20230512

CHEK2 mutations have been noted in bone, brain, breast, colon, lung, thyroid, and prostate cancer. Although now reported in both clear cell and non-clear cell renal cancer, we have not found CHEK2 2 mutations reported in the papillary type II subtype (PRCC). Here, we report a 63-year-old female with a PRCC type II with a concomitant CHEK2 C1100del mutation, who is currently in complete remission three years post tumor resection. ...[more]

PMID: 37719181

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Project description:BackgroundPapillary renal cell carcinoma (PRCC) can be divided into type 1 (PRCC1) and type 2 (PRCC2) and PRCC2 share a more invasive phenotype and worse prognosis. This study aims to identify potential prognostic and therapeutic biomarkers in PRCC2.MethodsA cohort from The Cancer Genome Atlas and two datasets from Gene Expression Omnibus were examined. Common differentially expressed genes (DEGs) were screened and potential biomarkers were explored by using Kaplan-Meier method and cox regression analysis. Functional enrichment analysis was utilized to evaluate the potential biological functions. Tumor infiltrating immune cells were estimated by CIBERSORT algorithm. Ninety-two PRCC2 samples from Fudan University Shanghai Cancer Center were obtained, and immunostaining was performed to validate prognostic and therapeutic significance of the potential biomarker.ResultsPRCC2 has worse overall survival and shares distinct molecular characteristics from PRCC1. There was significant higher expression level of Targeting protein for Xklp2 (TPX2) in PRCC2 compared with normal tissues. Higher expression level of TPX2 was significantly associated with worse overall survival in PRCC2 and kinesin family genes expression were found significantly elevated in high risk PRCC2. Abundance of tumor infiltrating M1 macrophage was significantly higher in PRCC2 and it was also associated with worse overall survival. In the FUSCC cohort, higher TPX2 expression was significantly correlated with worse overall and progression-free survival. Retrospective analysis indicated that mTOR inhibitor (everolimus) had greater efficacy in the high-risk group than in the low-risk group (overall response rate: 28.6% vs. 16.7%) and that everolimus had greater efficacy than sunitinib in the high-risk group (overall response rate: 28.6% vs. 20%).ConclusionsTPX2 was a prognostic and therapeutic biomarker in PRCC2. Higher abundance of tumor infiltrating M1 macrophage was significantly associated with worse overall survival in PRCC2. mTOR inhibitors may have good efficacy in patients with high-risk PRCC2.

Dataset Information

CHEK2 C1100del mutation associated with papillary renal cell carcinoma type II.

Publications

CHEK2 C1100del mutation associated with papillary renal cell carcinoma type II.

Similar Datasets

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