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单细胞基因分析验证了透明细胞肾细胞癌患者循环癌细胞的细胞病理学鉴定。

Single-cell genetic analysis validates cytopathological identification of circulating cancer cells in patients with clear cell renal cell carcinoma.

作者信息

Broncy Lucile, Njima Basma Ben, Méjean Arnaud, Béroud Christophe, Romdhane Khaled Ben, Ilie Marius, Hofman Veronique, Muret Jane, Hofman Paul, Bouhamed Habiba Chaabouni, Paterlini-Bréchot And Patrizia

机构信息

INSERM Unit 1151, Faculté de Médecine Paris Descartes, Paris, France.

Genetics and Pathology Departments, University of Tunis, Tunis, Tunisia.

出版信息

Oncotarget. 2018 Apr 13;9(28):20058-20074. doi: 10.18632/oncotarget.25102.

DOI:10.18632/oncotarget.25102
PMID:29732003
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5929446/
Abstract

CONTEXT

Circulating Rare Cells (CRC) are non-haematological cells circulating in blood. They include Circulating Cancer Cells (CCC) and cells with uncertain malignant features (CRC-UMF) according to cytomorphology. Clear cell renal cell carcinomas frequently bear a mutated Von Hippel-Lindau (VHL) gene.

AIM

To match blind genetic analysis of CRC and tumor samples with CRC cytopathological diagnosis.

RESULTS

29/30 patients harboured CRC (20 harboured CCC, 29 CRC-UMF) and 25/29 patients carried VHL mutations in their tumour. 205 single CRC (64 CCC, 141 CRC-UMF) provided genetic data. 57/57 CCC and 104/125 CRC-UMF from the 25 patients with VHL-mutated tumor carried the same VHL mutation detected in the tumor. Seven CCC and 16 CRC-UMF did not carry VHL mutations but were found in patients with wild-type VHL tumor tissue.

CONCLUSIONS

All the CCC and 83,2% (104/125) of the CRC-UMF were found to carry the same VHL mutation identified in the corresponding tumorous tissue, validating cytopathological identification of CCC in patients with clear cell renal cell carcinoma.

METHODS

The blood of 30 patients with clear cell renal cell carcinoma was treated by ISET for CRC isolation, cytopathology and single-cell VHL mutations analysis, performed blindly and compared to VHL mutations of corresponding tumor tissues and leukocytes.

摘要

背景

循环稀有细胞（CRC）是血液中循环的非血液学细胞。根据细胞形态学，它们包括循环癌细胞（CCC）和具有不确定恶性特征的细胞（CRC-UMF）。透明细胞肾细胞癌经常携带突变的冯·希佩尔-林道（VHL）基因。

目的

将CRC和肿瘤样本的盲法基因分析与CRC细胞病理学诊断相匹配。

结果

30例患者中有29例含有CRC（20例含有CCC，29例含有CRC-UMF），29例患者中有25例肿瘤携带VHL突变。205个单个CRC（64个CCC，141个CRC-UMF）提供了基因数据。25例VHL突变肿瘤患者的57个CCC和125个CRC-UMF中的104个携带与肿瘤中检测到的相同的VHL突变。7个CCC和16个CRC-UMF未携带VHL突变，但在VHL野生型肿瘤组织患者中发现。

结论

所有CCC和83.2%（104/125）的CRC-UMF被发现携带与相应肿瘤组织中鉴定出的相同的VHL突变，验证了透明细胞肾细胞癌患者中CCC的细胞病理学鉴定。

方法

对30例透明细胞肾细胞癌患者的血液进行ISET处理，用于CRC分离、细胞病理学和单细胞VHL突变分析，进行盲法操作，并与相应肿瘤组织和白细胞的VHL突变进行比较。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b1/5929446/edca45b65006/oncotarget-09-20058-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b1/5929446/0c2a54ed0bb8/oncotarget-09-20058-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b1/5929446/9021a1d5fcd8/oncotarget-09-20058-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b1/5929446/edca45b65006/oncotarget-09-20058-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b1/5929446/0c2a54ed0bb8/oncotarget-09-20058-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b1/5929446/9021a1d5fcd8/oncotarget-09-20058-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/59b1/5929446/edca45b65006/oncotarget-09-20058-g003.jpg

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