Changing the frequency and spectra of chromosomal aberrations in Korean patients with acute leukemia in a tertiary care hospital

Park, Je-Hyun; Kang, Minho; Kim, Hye‐Ran; Lee, Young‐Eun; Lee, Jun Hyung; Choi, Hyunjung; Shin, Jong‐Hee; Shin, Myung‐Geun

doi:10.5045/br.2020.2020255

Cited by 3 publications

(4 citation statements)

References 18 publications

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“…In the present study, we observed a higher frequency of 18% BCR::ABL1 fusion, followed by 4.9% ETV6::RUNX1 fusion, 3.8% TCF3::PBX1 fusion, 1.2% KMT2A::AFF1 fusion, and 26.67% BCR::ABL1 ‐like ALLs of all B‐ALL patients. The authors from high‐income and low‐income countries reported the recurrent genetic abnormalities (RGA) frequencies including 0.6%–35% BCR::ABL1 ‐positive ALLs, 0.8%–30.6% ETV6::RUNX1 , 0.8%–6.2% TCF3::PBX1 , 0.5%–19% KMT2A‐AFF1 , and 10%–33.1% BCR::ABL1 ‐like ALL cases 6,7,12‐15,17,18,20,28,31,32,34,37,41,49‐61 . The overall frequencies of RGAs and BCR::ABL1 ‐like ALL cases reported in the literature from low‐income and high‐income countries among B‐ALL patients (from India as well as other countries) are summarized in Table 3.…”

Section: Discussionmentioning

confidence: 99%

“…ABL1-positive ALLs, 0.8%-30.6% ETV6::RUNX1, 0.8%-6.2% TCF3:: PBX1, 0.5%-19% KMT2A-AFF1, and 10%-33.1% BCR::ABL1-like ALL cases. 6,7,[12][13][14][15]17,18,20,28,31,32,34,37,41,[49][50][51][52][53][54][55][56][57][58][59][60][61] monoclonal antibody clone type, and differences in flow cytometry methodology, processing, and data analysis. 74,76 Table 4 compares the reported frequencies of myeloid marker expression in B-ALL patients.…”

Section: Discussionmentioning

confidence: 99%

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Hematological, clinical, immunophenotypic characterization, and treatment outcomes of prognostically significant genetic subtypes of B‐lineage acute lymphoblastic leukemia: A report of 1021 patients from India

Gupta

Varma

Sharma

et al. 2023

Cancer

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BackgroundThe published literature on hematological, clinical, flowcytometric‐immunophenotyping, and minimal residual disease outcomes of the prognostically important genetic subtypes of acute lymphoblastic leukemia (ALL) is scarce from low‐income countries. For newer classifications such as BCR::ABL1‐like ALLs, the scarcity of patient‐level data is even more pronounced.MethodsThe authors performed comprehensive detection of recurrent gene fusions and BCR::ABL1‐like ALL cases followed by immunophenotypic profiling and obtained clinical outcome parameters for a large cohort (n = 1021) of patients from India. This cohort included a significant number of patients with BCR::ABL1‐like ALL subtype and other genetic subtypes of ALL.ResultsPatients with BCR::ABL1‐positive and BCR::ABL1‐like ALL were significantly older, had male preponderance, and expressed a higher white blood cell count than BCR::ABL1‐negative cases (p < .05). Logistic regression modeling of B‐lineage‐ALL (B‐ALL) subtypes revealed that cluster of differentiation (CD)36 is a strong statistically significant predictive marker of BCR::ABL1‐like ALL (p < .05). Furthermore, patients with BCR::ABL1‐like ALLs show a significantly higher frequency of CD36 expression compared to BCR::ABL1‐negative ALLs (p < .05). In terms of clinical symptoms, lymphadenopathy is a strong statistically significant predictive marker in BCR::ABL1‐like ALLs compared to BCR::ABL1‐negative ALL cases (p < .05). In terms of treatment outcomes, minimal residual disease (MRD) positivity in BCR::ABL1‐positive ALL cases were statistically significant (p < .05), and BCR::ABL1‐like ALL cases had high MRD‐positivity as compared to BCR::ABL1‐negative ALL cases but did not show statistical significance.ConclusionsThe findings evince the use of novel therapies and personalized treatment regimens to improve the overall survival of the newer incorporated entities in B‐ALLs. This is the first report characterizing the hematological, clinical, flowcytometric‐immunophenotyping, and minimal residual disease outcomes of the prognostically significant subtypes of ALLs in patients from India.Plain Language Summary Characterizing the hematological, clinical, flowcytometric‐immunophenotyping, and minimal residual disease outcomes of the prognostically significant subtypes (n = 1021) of acute lymphoblastic leukemia (ALLs) in patients from India. We have made two independent logistic regression models of cluster of differentiation (CD) markers and clinical symptoms to differentiate prognostically significant subtypes of ALLs. Logistic regression analysis of CD markers revealed CD36 as a strong predictor in BCR::ABL1‐like ALL cases compared to BCR::ABL1‐negative ALL cases. Logistic regression analysis of clinical symptoms revealed lymphadenopathy significantly predicts BCR::ABL1‐like ALLs (p < .05). In terms of treatment outcomes, BCR::ABL1‐positive ALL had statistically significant minimal residual disease (MRD) (p < .05), and BCR::ABL1‐like ALL cases had high MRD‐positivity but did not show statistical significance as compared to BCR::ABL1‐negative ALLs.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Hematological, clinical, immunophenotypic characterization, and treatment outcomes of prognostically significant genetic subtypes of B‐lineage acute lymphoblastic leukemia: A report of 1021 patients from India

Gupta

Varma

Sharma

et al. 2023

Cancer

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“…Among these genetic mutations, gene fusion not only plays an important role in the development of blood cancers such as leukemia, it is also important as an essential marker for diagnosis, risk assessment, optimal treatment selection, and residual lesion detection. Most clinical hematology laboratories use conventional cytogenetic testing, fluorescent in situ hybridization (FISH), and multiplex reverse transcriptase-PCR to detect gene fusion mutations [ 1 , 2 ]. However, the above methods currently used have great limitations in detecting various gene fusions that occur in blood cancer.…”

Section: To the Editormentioning

confidence: 99%

Comparative evaluation of the developed targeted RNA sequencing system and a commercialized test panel

et al. 2022

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“…Acute myeloid leukemia (AML) is a heterogeneous group of diseases with variable prognoses, [1][2][3] resulting primarily from the complexity of the clonal architectures due to various chromosomal abnormalities, genetic mutations, or epigenetic changes. [1][2][3][4] In addition to this biological heterogeneity, age is an important prognostic indicator. 5,6 For instance, older adults with AML have been considered a distinct entity representing a vulnerable population characterized by inferior response and lower tolerance to conventional chemotherapy.…”

Section: Introductionmentioning

confidence: 99%

Prognostic value of European Leukemia Net 2022 criteria and genomic clusters using machine learning in older adults with acute myeloid leukemia

Park,

Kim,

Cho

et al. 2023

haematol

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This study aimed to validate the new European Leukemia Net (ELN) 2022 criteria for genetic risk stratification in older adults with acute myeloid leukemia (AML) and to determine the most likely set of clusters of similar cytogenetic and mutation properties correlated with survival outcomes in three treatment groups: intensive chemotherapy (IC), hypomethylating agents (HMAs) alone, and HMAs plus venetoclax (HMA/VEN). The study included 279 patients (≥60 years) who received IC (n=131), HMA (n=76), and HMA/VEN (n=72) between July 2017 and October 2021. No significant differences were observed in survival among the groups according to ELN 2022 risk stratification. Unsupervised hierarchical clustering analysis identified nine genomic clusters (C1-9) with varying survival outcomes depending on treatment type. For example, C4 (predominant for core binding factor-AML) displayed a favorable prognosis in the IC group, but not in the HMA or HMA/VEN group. The HMA/VEN group had better outcomes than the HMA group in many clusters (C1, 2, 3, and 5); however, the addition of VEN to HMA or IC did not improve the survival outcomes compared with those of HMA alone in C7 and C9 [predominant for -5, del(5q), -7, -17/abn(17p), complex karyotypes, and mutated TP53]. The study highlights the limitations of ELN genetic risk stratification in older adults with AML. It emphasizes the need for a more comprehensive approach that considers co-occurring somatic mutations to guide treatment selection in older adults with AML potentially.

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Changing the frequency and spectra of chromosomal aberrations in Korean patients with acute leukemia in a tertiary care hospital

Cited by 3 publications

References 18 publications

Hematological, clinical, immunophenotypic characterization, and treatment outcomes of prognostically significant genetic subtypes of B‐lineage acute lymphoblastic leukemia: A report of 1021 patients from India

Hematological, clinical, immunophenotypic characterization, and treatment outcomes of prognostically significant genetic subtypes of B‐lineage acute lymphoblastic leukemia: A report of 1021 patients from India

Comparative evaluation of the developed targeted RNA sequencing system and a commercialized test panel

Prognostic value of European Leukemia Net 2022 criteria and genomic clusters using machine learning in older adults with acute myeloid leukemia

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