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