Combination of multicolor flow cytometry for circulating lymphoma cells and tests for the RHOAG17V and IDH2R172 hot-spot mutations in plasma cell-free DNA as liquid biopsy for the diagnosis of angioimmunoblastic T-cell lymphoma

Hayashida, Masahiko; Maekawa, Fumiyo; Chagi, Yoshinari; Iioka, Futoshi; Kobashi, Yoichiro; Watanabe, Mikio; Ohno, Hitoshi

doi:10.1080/10428194.2020.1768382

Cited by 12 publications

(14 citation statements)

References 30 publications

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“…For diagnosis and to determine the mutational landscape, as in angioimmunoblastic T cell lymphoma, detection of HOAG17V/IDH2R172 mutations primarily takes place using allele-specific polymerase chain reaction (AS-PCR). However, in a previous study with 20 patients, it was not possible to demonstrate an association between mutations and clinical parameters or survival [132]. Milkjovic et al used dPCR to detect TCR rearrangements in 34 patients with peripheral T cell lymphoma (PTCL), and reported that a median 2.6-log decrease in their ctDNA level after the first two cycles of treatment and that early clearance of ctDNA after cycle 2 was not associated with a statistically significant improvement in EFS (median (95% CI), 8.4 (0.1-NR) vs. 2.0 (0.1-NR) years; p = 0.32) or OS (median, 8.4 (0.3-NR) vs. 7.0 (0.5-NR) years; p = 0.44) [133].…”

Section: T Cell Lymphomasmentioning

confidence: 78%

Minimal Residual Disease Using Liquid Biopsies in Hematological Malignancies

Colmenares¹,

Álvarez²,

Barrio³

et al. 2022

Preprint

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The study of cell-free DNA (cfDNA) and other peripheral blood components (known as “liquid biopsies”) is promising and has been investigated especially in solid tumors. Nevertheless, it is increasingly showing greater utility in the diagnosis, prognosis, and response to treatment of hematological malignancies; in the future, it could prevent invasive techniques, such as bone marrow (BM) biopsy. Most of the studies about this topic have been focused on B cell lymphoid malignancies; some of them have shown that cfDNA can be used as a novel way for diagnosis and minimal residual monitoring in B cell lymphomas, using techniques such as next-generation sequencing (NGS). In myelodysplastic syndromes, multiple myeloma, or chronic lymphocytic leukemia, liquid biopsies may allow for an interesting genomic representation of the tumor clones affecting different lesions (spatial heterogeneity). In acute leukemias, it can be helpful in the monitoring of early treatment response and the prediction of treatment failure. In chronic lymphocytic leukemia, the evaluation of cfDNA permits the definition of clonal evolution and drug resistance in real-time. However, there are limitations such as the difficulty in obtaining sufficient circulating tumor DNA for achieving a high sensitivity to assess minimal residual disease or the lack of standardization of the method and clinical studies to confirm its prognostic impact. This review focuses on clinical applications of cfDNA on minimal residual disease in hematological malignancies.

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Section: T Cell Lymphomasmentioning

confidence: 78%

Minimal Residual Disease Using Liquid Biopsies in Hematological Malignancies

Colmenares¹,

Álvarez²,

Barrio³

et al. 2022

Preprint

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“…In a few case studies, RHOA mutation was detected in circulating free DNA or peripheral blood lymphocytes from patients with AITL/PTCL-TFH, 15 and the mutation burden appeared to correlate with the treatment outcome. 23 , 24 It remains to be investigated whether the mutation is detectable in circulating free DNA or peripheral blood lymphocytes at the time of initial non-diagnostic biopsies.…”

Section: Discussionmentioning

confidence: 99%

“… 2 , 5 , 13 , 14 Studies to date suggest that the RHOA Gly17Val mutation could be used as a marker for the diagnosis of AITL and PTCL-TFH. 6 , 15 However, it is unclear whether the mutation is present in tissue biopsies prior to the diagnosis of AITL and whether mutation analysis could help in the early detection of these lymphomas. To investigate these issues, we established a highly sensitive quantitative polymerase chain reaction (qPCR) assay to detect the RHOA mutation, and screened a large cohort (n=37 cases) of AITL and PTCL-TFH with multiple sequential biopsies together with 61 controls.…”

Section: Introductionmentioning

confidence: 99%

Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis

Dobson

Rásó‐Barnett

et al. 2021

haematol

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Angioimmunoblastic T-cell lymphoma (AITL) and peripheral T-cell lymphoma with T follicular helper phenotype (PTCL-TFH) are a group of complex clinicopathological entities that originate from TFH cells and share a similar mutation profile. Their diagnosis is often a challenge, particularly at an early stage, due to a lack of specific histological and immunophenotypic features, paucity of neoplastic T cells and prominent polymorphous infiltrate. We investigated whether the lymphoma associated RHOA Gly17Val (c.50G>T) mutation, occurring in 60% of cases, is present in the early ‘reactive’ lesions, and whether mutation analysis can help advance early lymphoma diagnosis. The RHOA mutation was detected by quantitative PCR with a locked nucleic acid (LNA) probe specific to the mutation, and a further PNA clamp oligonucleotide to suppress the amplification of the wild-type allele. The qPCR assay was highly sensitive and specific, detecting RHOA Gly17Val at an allele frequency of 0.03%, but not other changes in Gly17, nor in 61 controls. Among the 37 cases of AITL and PTCL-TFH investigated, RHOA Gly17Val was detected in 62.2% (23/37) of which 19 had multiple biopsies including preceding biopsies in 10 and follow up biopsies in 11 cases. RHOA Gly17Val was present in each of these preceding or follow up biopsies including 18 specimens that showed no evidence of lymphoma by combined histological, immunophenotypic and clonality analyses. The mutation was seen in biopsies 0-26.5 months (mean=7.87 months) prior to lymphoma diagnosis. Our results show that RHOA Gly17Val mutation analysis is valuable in the early detection of AITL and PTCL-TFH.

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“…Camus et al used digital PCR to detect XPO1, MYD88, and EZH2 mutations in cfDNA from DLBCL patients (80). Hayashida et al found that angioimmunoblastic T-cell lymphoma patients carried RHOA G17V and IDH2 R172 mutations in cfDNA (81). These related mutations may be beneficial for guiding the selection of targeted drugs.…”

Section: Lbs In Treatmentmentioning

confidence: 99%

“…Hayashida et al. found that angioimmunoblastic T-cell lymphoma patients carried RHOA G17V and IDH2 R172 mutations in cfDNA ( 81 ). These related mutations may be beneficial for guiding the selection of targeted drugs.…”

Section: Lbs In Treatmentmentioning

confidence: 99%

Clinical Application of Liquid Biopsy in Non-Hodgkin Lymphoma

Liu

2021

Front. Oncol.

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Non-Hodgkin lymphoma (NHL) is a common type of hematological malignant tumor, composed of multiple subtypes that originate from B lymphocytes, T lymphocytes, and natural killer cells. A diagnosis of NHL depends on the results of a pathology examination, which requires an invasive tissue biopsy. However, due to their invasive nature, tissue biopsies have many limitations in clinical applications, especially in terms of evaluating the therapeutic response and monitoring tumor progression. To overcome these limitations of traditional tissue biopsies, a technique known as “liquid biopsies” (LBs) was proposed. LBs refer to noninvasive examinations that can provide biological tumor data for analysis. Many studies have shown that LBs can be broadly applied to the diagnosis, treatment, prognosis, and monitoring of NHL. This article will briefly review various LB methods that aim to improve NHL management, including the evaluation of cell-free DNA/circulating tumor DNA, microRNA, and tumor-derived exosomes extracted from peripheral blood in NHL.

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Combination of multicolor flow cytometry for circulating lymphoma cells and tests for the RHOA^G17V and IDH2^R172 hot-spot mutations in plasma cell-free DNA as liquid biopsy for the diagnosis of angioimmunoblastic T-cell lymphoma

Cited by 12 publications

References 30 publications

Minimal Residual Disease Using Liquid Biopsies in Hematological Malignancies

Minimal Residual Disease Using Liquid Biopsies in Hematological Malignancies

Early detection of T-cell lymphoma with T follicular helper phenotype by RHOA mutation analysis

Clinical Application of Liquid Biopsy in Non-Hodgkin Lymphoma

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