T-cell lymphoma clonality by copy number variation analysis of T-cell receptor genes

Claudio Tripodo, Tae-Hoon Chung, Rex K. H. Au-Yeung, Joseph D. Khoury, Shigeo Nakamura, Yong-Howe Ho, Jing Quan Lim, Bernett Lee, Zhenhua Li, Ming Liang Oon, Gwyneth Shook-Ting Soon, Shih-Sung Chuang, Seiichi Kato, Chee-Leong Cheng, Evelyn Huizi Lim, Jing Quan Lim, Choon Kiat Ong, Soo-Yong Tan, Zi Wei Wong, Shangying ChenSai Mun Leong, Kenneth Hon Kim Ban, Allen Eng Juh Yeoh, Zhenhua Li, Sai Mun Leong, Allen Eng Juh Yeoh, Olaf Rotzschke, Sai Mun Leong, Shih-Sung Chuang, Emiko Takahashi, Choon Kiat Ong, Siok-Bian Ng, Soon-Thye Lim, Wee-Joo Chng

Risultato della ricerca: Articlepeer review


T-cell lymphomas arise from a single neoplastic clone and exhibit identical patterns of deletions in T-cell receptor (TCR) genes. Whole genome sequencing (WGS) data represent a treasure trove of information for the development of novel clinical applications. However, the use of WGS to identify clonal T-cell proliferations has not been systematically studied. In this study, based on WGS data, we identified monoclonal rearrangements (MRs) of T-cell receptors (TCR) genes using a novel segmentation algorithm and copy number computation. We evaluated the feasibility of this technique as a marker of T-cell clonality using T-cell lymphomas (TCL, n = 44) and extranodal NK/T-cell lymphomas (ENKTLs, n = 20), and identified 98% of TCLs with one or more TCR gene MRs, against 91% detected using PCR. TCR MRs were absent in all ENKTLs and NK cell lines. Sensitivity-wise, this platform is sufficiently competent, with MRs detected in the majority of samples with tumor content under 25% and it can also distinguish monoallelic from biallelic MRs. Understanding the copy number landscape of TCR using WGS data may engender new diagnostic applications in hematolymphoid pathology, which can be readily adapted to the analysis of B-cell receptor loci for B-cell clonality determination.
Lingua originaleEnglish
pagine (da-a)1-17
Numero di pagine17
Stato di pubblicazionePublished - 2021

All Science Journal Classification (ASJC) codes

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  • ???subjectarea.asjc.1300.1306???


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