A glimpse into translocation (8;21) in acute myeloid leukemia: Profile and therapeutic outcomes from a tertiary care hematology center from East India

Baul, Shuvra Neel; Baveja, Avriti; Mandal, Prakas Kumar; De, Rajib; Dutta, Shyamali; Dolai, Tuphan Kanti

doi:10.25259/jhas_1_2022

Cited by 3 publications

(1 citation statement)

References 29 publications

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“…In AML with t(8;21), leukemic blasts may exhibit lymphoid markers such as CD19 and PAX5, as well as cytoplasmic expression of CD79a 1 . In a study conducted in India involving 29 patients diagnosed with AML and t(8;21), aberrant expression of CD19 was observed in 44.8% of patients 5 . The initial challenge we faced upon receiving the bone marrow sample and conducting immunophenotyping was distinguishing between AML and mixed phenotypic acute leukemia (MPAL).…”

Section: Discussionmentioning

confidence: 99%

Acute Myeloid Leukemia with 8:21 Translocation and Aberrant B-Marker Expression

Saidin,

Zulkeflee,

Abdullah

et al. 2023

Biomed. Res. Ther.

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Background: Acute myeloid leukemia (AML) with t(8;21)(q22;q22) is a frequently encountered subtype of AML with recurrent genetic abnormalities, found in approximately 1 -5% of AML cases. Here, we present cases of AML with t(8;21) in elderly patients with aberrant B-marker expression identified at our institution, including their clinical outcomes when treated with hypomethylating agents and BCL-2 inhibitors. Case presentation: A 60-year-old patient diagnosed with AML carried the t(8;21) chromosomal translocation. Immunophenotyping and immunohistochemistry revealed aberrant expression of B-markers, including CD19, CD79a, and PAX5. Cytogenetic analysis also identified a loss of the X chromosome, a common cytogenetic aberration in AML associated with t(8;21). Due to the patient's age and inability to tolerate intensive chemotherapy, treatment was initiated using a hypomethylating agent and a BCL-2 inhibitor. Although the initial bone marrow evaluation showed an excess of blast cells, subsequent assessments demonstrated a favorable response to the treatment, with the absence of blast cells and improvements in peripheral blood parameters. Conclusion: The presence of B-marker expression in AML with t(8;21) is a relatively common occurrence. The integration of cytogenetic and molecular investigations plays a vital role in accurately diagnosing and classifying AML. A remarkable feature of AML with t(8;21) is its high remission rate, and this holds true even in cases where standard intensive chemotherapy is not utilized. Moreover, the detection of aberrant B-marker expression, particularly CD19, signifies a favorable prognosis.

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Section: Discussionmentioning

confidence: 99%

Acute Myeloid Leukemia with 8:21 Translocation and Aberrant B-Marker Expression

Saidin,

Zulkeflee,

Abdullah

et al. 2023

Biomed. Res. Ther.

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BAALC-Expressing Leukemia Hematopoietic Stem Cells and Their Place in the Study of CBF-Positive Acute Myeloid Leukemias in Children and Adults

Канунников,

Мамаев,

Гиндина

et al. 2024

Clinical Oncohematology

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Background. Due to changing views on pathogenesis, risk factors and therapy strategies in prognostically favorable CBF-positive acute myeloid leukemias[1] (AML), the expression monitoring of RUNX1/RUNX1T1 or CBFB/MYH11 fusion genes, as an additional evaluation of treatment outcomes, appears to be insufficient. This indicates the need to improve the monitoring of the CBF+ AML course by means of parallel measurements of BAALC expression levels which roughly correlate with the mass of BAALC-expressing leukemia hematopoietic stem cells (BAALC-e LHSC). Aim. To improve the quality of assessing treatment outcomes with due account for expression levels of RUNX1/RUNX1T1 or CBFB/MYH11 fusion genes and the mass of BAALC-e LHSC and on this basis to pave the way for personalized CBF+ AML treatment. Materials & Methods. This study enrolled 39 adult patients aged 20–81 years (median 32 years) and 8 children aged 2–18 years (median 12 years). Among them there were 20 females and 27 males. AML with inv(16)(p13;q22)/t(16;16) was identified in 19 patients, t(8;21)(q22;q22) was detected in 28 patients. BAALC, WT1, RUNX1/RUNX1T1, CBFB/MYH11 expression levels were measured by quantitative real-time PCR and related to the expression of the ABL1 expert gene. Results. In 23 patients, inv(16) and t(8;21) appeared to be isolated. Additional multidirectional chromosomal changes were observed in 24 patients with inv(16) and in 18 patients with t(8;21). All enrolled patients showed increased BAALC expression. In the course of therapy, it was decreasing to the threshold value in 16/18 (89 %) patients. The evaluation of the mean BAALC expression levels in the pooled groups of children and adults with isolated findings of either inv(16) or t(8;21) showed the decrease of the BAALC-e LHSC mass only in children (p = 0.049). The comparison of the mean WT1 expression levels in the pooled groups of children and adults with isolated and additional chromosomal abnormalities revealed their significant decrease in patients with complicated variants (p = 0.023). Conclusion. The case reports provided in this paper show that the molecular monitoring with serial measurements of fusion genes and BAALC gene expression levels in CBF+ AML patients can lay the basis for further improvement of personalized treatment strategies for these patients. In all likelihood, parallel measurements of the above gene expression levels will allow to establish the framework for decision-making concerning treatment extent and timely HSC transplantation.

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Cytogenetic profile of leukemia cases in northern region of Malaysia - A single centre retrospective study

Shamsuddin,

Azhari,

Azizan

et al. 2024

APJMBB

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Leukemia is a heterogeneous disease in terms of cytogenetics, with four primary subtypes: acute lymphoid leukemia (ALL), acute myeloid leukemia (AML), chronic myeloid leukemia (CML), and chronic lymphoid leukemia (CLL). As cytogenetic heterogeneity increases, the disease prognosis worsens, highlighting the significance of cytogenetic profile in disease diagnosis. In this study, we conducted cytogenetic profiling of 105 leukemia cases referred to the Clinical Diagnostic Laboratory (CDL) at the Advanced Medical and Dental Institute (AMDI) in northern Malaysia between 2006 and 2021. Of these cases, 50.47% were ALL, 37.14% were AML, and 12.38% were CML. Most of the patients, approximately 57.15%, were cytogenetically normal, while the rest, 42.85%, were cytogenetically abnormal. Overall, the most common cytogenetically abnormal karyotypes detected in patients were chromosomal translocation (20.95%), followed by complex karyotypes (13.33%), and chromosomal addition (4.76%). The majority of ALL patients were under 14 years old, whereas most AML and CML patients were older than 14. The correlation between the ages and the karyotype abnormalities in ALL, AML, and CML showed a negative moderate correlation (r=-0.501, p=0.312). In conclusion, cytogenetic profiling provides valuable insights into the disease's underlying mechanism, which may help strategize the treatment of leukemia patients.

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A glimpse into translocation (8;21) in acute myeloid leukemia: Profile and therapeutic outcomes from a tertiary care hematology center from East India

Cited by 3 publications

References 29 publications

Acute Myeloid Leukemia with 8:21 Translocation and Aberrant B-Marker Expression

Acute Myeloid Leukemia with 8:21 Translocation and Aberrant B-Marker Expression

BAALC-Expressing Leukemia Hematopoietic Stem Cells and Their Place in the Study of CBF-Positive Acute Myeloid Leukemias in Children and Adults

Cytogenetic profile of leukemia cases in northern region of Malaysia - A single centre retrospective study

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