Next generation diagnostic molecular pathology: Critical appraisal of quality assurance in Europe

被引：36

作者：

Dubbink, Hendrikus J. ^{[1
]}

Deans, Zandra C. ^{[3
]}

Tops, Bastiaan B. J. ^{[2
]}

van Kemenade, Folkert J. ^{[1
]}

Koljenovic, S. ^{[1
]}

van Krieken, Han J. M. ^{[2
]}

Blokx, Willeke A. M. ^{[2
]}

Dinjens, Winand N. M. ^{[1
]}

Groenen, Patricia J. T. A. ^{[2
]}

机构：

[1] Univ Med Ctr Rotterdam, Erasmus MC, Dept Pathol, NL-3000 CA Rotterdam, Netherlands

[2] Radboud Univ Nijmegen, Med Ctr, Dept Pathol, NL-6525 ED Nijmegen, Netherlands

[3] Royal Infirm Edinburgh NHS Trust, Dept Lab Med, UK NEQAS Mol Genet, Edinburgh, Midlothian, Scotland

来源：

MOLECULAR ONCOLOGY | 2014年 / 8卷 / 04期

关键词：

Molecular pathology; Next generation sequencing; Proficiency testing; Quality assessment; Quality assurance; Tumor testing; GASTROINTESTINAL STROMAL TUMOR; LUNG-CANCER; CLINICAL-IMPLICATIONS; COLORECTAL-CANCER; LYNCH SYNDROME; MUTATION; MELANOMA; IMPROVEMENT; ROUNDS; EGFR;

D O I：

10.1016/j.molonc.2014.03.004

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Tumor evaluation in pathology is more and more based on a combination of traditional histopathology and molecular analysis. Due to the rapid development of new cancer treatments that specifically target aberrant proteins present in tumor cells, treatment decisions are increasingly based on the molecular features of the tumor. Not only the number of patients eligible for targeted precision medicine, but also the number of molecular targets per patient and tumor type is rising. Diagnostic molecular pathology, the discipline that determines the molecular aberrations present in tumors for diagnostic, prognostic or predictive purposes, is faced with true challenges. The laboratories have to meet the need of comprehensive molecular testing using only limited amount of tumor tissue, mostly fixed in formalin and embedded in paraffin (FFPE), in short turnaround time. Choices must be made for analytical methods that provide accurate, reliable and cost-effective results. Validation of the test procedures and results is essential. In addition, participation and good performance in internal (IQA) and external quality assurance (EQA) schemes is mandatory. In this review, we critically evaluate the validation procedure for comprehensive molecular tests as well as the organization of quality assurance and assessment of competence of diagnostic molecular pathology laboratories within Europe. (C) 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

引用

页码：830 / 839

页数：10

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