Consensus Recommendations to Optimize the Detection and Reporting of NTRK Gene Fusions by RNA-Based Next-Generation Sequencing

被引：1

作者：

Stockley, Tracy L. ^{[1
,2
,3
]}

Lo, Bryan ^{[4
]}

Box, Adrian ^{[5
]}

Corredor, Andrea Gomez ^{[6
]}

DeCoteau, John ^{[7
]}

Desmeules, Patrice ^{[8
]}

Feilotter, Harriet ^{[9
,10
]}

Grafodatskaya, Daria ^{[11
,12
]}

Hawkins, Cynthia ^{[2
,13
]}

Huang, Weei Yuarn ^{[2
,14
,15
]}

Izevbaye, Iyare ^{[16
]}

Lepine, Guylaine ^{[17
]}

Papadakis, Andreas I. ^{[18
]}

Park, Paul C. ^{[19
]}

Sheffield, Brandon S. ^{[20
]}

Tran-Thanh, Danh ^{[21
]}

Yip, Stephen ^{[22
,23
]}

Sound Tsao, Ming ^{[1
,2
]}

机构：

[1] Univ Hlth Network, Lab Med Program, Toronto, ON M5G 2C4, Canada

[2] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5R 0A3, Canada

[3] Princess Margaret Canc Ctr, Adv Mol Diagnost Lab, Toronto, ON M5G 2C1, Canada

[4] Ottawa Hosp, Dept Pathol & Lab Med, Ottawa, ON K1H 8L6, Canada

[5] Alberta Precis Labs, Calgary, AB T2N 7A4, Canada

[6] McGill Univ, Ctr Hlth, Montreal, PQ, Canada

[7] Univ Saskatchewan, Coll Med, Dept Pathol & Lab Med, Saskatoon, SK S7N 5A9, Canada

[8] IUCPQ UL, Quebec Heart & Lung Inst, Quebec City, PQ G1V 4G5, Canada

[9] Kingston Hlth Sci Ctr, Kingston, ON K7L 2V7, Canada

[10] Queens Univ, Dept Pathol & Mol Med, Kingston, ON K7L 3N6, Canada

[11] Hamilton Hlth Sci Ctr, Hamilton, ON L9C 1C4, Canada

[12] McMaster Univ, Dept Pathol & Mol Med, Hamilton, ON L8S 4K1, Canada

[13] Hosp Sick Children, Dept Paediat Lab Med, Toronto, ON M5G 1X8, Canada

[14] Nova Scotia Hlth Author, Halifax, NS B3H 2E2, Canada

[15] Sunnybrook Hlth Sci Ctr, Toronto, ON M4N 3M5, Canada

[16] Univ Alberta, Dept Lab Med & Pathol, Edmonton, AB T6G 2R7, Canada

[17] Hop Maison Neuve Rosemont, Montreal, PQ H1T 2M4, Canada

[18] Jewish Gen Hosp, Lady Davis Inst, Montreal, PQ H3T 1E2, Canada

[19] Shared Hlth Manitoba, Winnipeg, MB R3A IR9, Canada

[20] William Osler Hlth Syst, Brampton, ON L6R 3J7, Canada

[21] CHUM Ctr Hosp Univ Montreal, Montreal, PQ H3T 1J4, Canada

[22] BC Canc, Vancouver, BC V5Z 4S6, Canada

[23] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V6H 3Z6, Canada

来源：

CURRENT ONCOLOGY | 2023年 / 30卷 / 04期

关键词：

next generation RNA sequencing; molecular pathology; oncology; NTRK gene fusions; CANADIAN CONSENSUS; CANCER; VARIANTS;

D O I：

10.3390/curroncol30040302

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

The detection of gene fusions by RNA-based next-generation sequencing (NGS) is an emerging method in clinical genetic laboratories for oncology biomarker testing to direct targeted therapy selections. A recent Canadian study (CANTRK study) comparing the detection of NTRK gene fusions on different NGS assays to determine subjects' eligibility for tyrosine kinase TRK inhibitor therapy identified the need for recommendations for best practices for laboratory testing to optimize RNA-based NGS gene fusion detection. To develop consensus recommendations, representatives from 17 Canadian genetic laboratories participated in working group discussions and the completion of survey questions about RNA-based NGS. Consensus recommendations are presented for pre-analytic, analytic and reporting aspects of gene fusion detection by RNA-based NGS.

引用

页码：3989 / 3997

页数：9

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