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Clinicopathological Characteristics and Mutational Profiling of Adult T-Cell Lymphoblastic Lymphoma in a Chinese Population

Authors Chen F, Pang D, Guo H, Jiang X, Liu S, Huang L, Wei X, Liang Z, Wang X, Li W

Received 19 December 2019

Accepted for publication 9 April 2020

Published 30 April 2020 Volume 2020:12 Pages 3003—3012


Checked for plagiarism Yes

Review by Single anonymous peer review

Peer reviewer comments 3

Editor who approved publication: Dr Kenan Onel

Feili Chen,1 Diwen Pang,1 Hanguo Guo,1 Xinmiao Jiang,1 Sichu Liu,1 Ling Huang,1 Xiaojuan Wei,1 Zhanli Liang,1 Xiaoxia Wang,2 Wenyu Li1

1Lymphoma Division, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, School of Medicine, South China University of Technology Guangzhou, Guangdong, People’s Republic of China; 2Nanjing Geneseeq Technology Inc, Nanjing, Jiangsu, People’s Republic of China

Correspondence: Wenyu Li
Lymphoma Division, Guangdong Provincial People’s Hospital, Guangdong Academy of Medical Sciences, School of Medicine, South China University of Technology, No. 123, West of Huifu Road, Guangzhou, Guangdong, People’s Republic of China
Tel/Fax +86-20-81884713-80631

Purpose: The purpose of this study is to perform a retrospective analysis of disease outcomes and mutational profiles in patients with adult T-cell lymphoblastic lymphoma (T-LBL).
Patients and Methods: A total of 43 patients were treated over a 9-year period at a single institution. The study examined treatment outcomes, clinical characteristics, and the use of circulating tumor DNA (ctDNA) and mutational profiling for patient diagnosis.
Results: The estimated overall survival (OS) and progression-free survival (PFS) time for all patients was 37.0 (95% CI: 17.7– 56.2) and 28.1 (95% CI: 0.9– 55.4) months, respectively. Chidamide maintenance was used in five patients exhibiting unfavorable genetic alterations, with no evidence of relapse. Next-generation sequencing of pretreatment tumor tissue was undertaken for 15 patients. NOTCH1 mutations were the most frequent genetic alterations, followed by mutations in PHF6, TP53, JAK1, JAK3, PTEN, and DNM2. The genetic profile of the blood was similar to that of the tumor. Kappa coefficient analysis (14 patients, 56 time points, kappa = 1.0, p = 0.00) indicated a 92.6% agreement between ctDNA response and tumor volume measurements at post treatment when compared with baseline. Detection of ctDNA predicted disease relapse in two patients.
Conclusion: The prognosis of patients with adult T-LBL remains very poor. Detection of tumor-associated sequences in ctDNA may be an effective method for diagnosing T-LBL and measuring treatment efficacy. Incorporation of new drugs such as histone deacetylase inhibitors (HDACi)has the potential to improve outcomes in these patients.

Keywords: lymphoblastic lymphoma, gene mutations, HDACi, circulating tumor DNA

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