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<p>Core Binding Factor Acute Myeloid Leukemia (CBF-AML), defined by <i>RUNX1::RUNX1T1</i> or <i>CBFB::MYH11</i> fusions, represents a biologically favorable AML subtype. The Indian data—especially under WHO 2022 criteria—are limited. This study analyzed the demographic, morphological, and immunophenotypic spectrum of CBF-AML in a large North Indian cohort, focusing on pediatric–adult differences, low-blast presentations, and immunophenotypic signatures.An ambispective study (2017–2024) of 196 genetically confirmed CBF-AML cases included clinical, hematopathological, and flow cytometric evaluation. Statistical comparisons were performed using appropriate tests. CBF-AML constituted 16.4% of all AML cases, more frequent in pediatric (44.2%) than adults (11.1%). <i>RUNX1::RUNX1T1</i> accounted for 85.7% and <i>CBFB::MYH11</i> for 14.3%. Age-stratified analysis showed higher rates of lymphadenopathy, hepatomegaly, and splenomegaly in <i>CBFB::MYH11</i> patients aged 41–60 years (p &lt; 0.05). Extramedullary disease occurred in 11.2%. Sixteen patients (8.2%) had &lt;20% marrow blasts, often mimicking myelodysplastic/myeloproliferative neoplasms (MDS/MPN), underscoring the need for molecular testing irrespective of blast count. Morphologically, <i>CBFB::MYH11</i> was associated with myelomonocytic features and eosinophilia; <i>RUNX1::RUNX1T1</i> showed dysgranulopoiesis and long slender Auer rods. Immunophenotyping revealed CD123 and CD86 overexpression in <i>CBFB::MYH11</i> (90% and 83.3%, respectively) besides higher expression of monocytic markers. <i>RUNX1::RUNX1T1</i> showed frequent CD19, CD22, and CD56 expression. Survival analysis limited to a small treated subset (n = 30), revealed complete remission rate of 76.7% following induction, with median overall and relapse-free survival of 408 and 215 days, respectively. This largest single-center Indian series of CBF-AML in the WHO 2022 era highlights subtype-specific clinicopathological patterns, reaffirms classic morphology, and emphasizes routine molecular testing, particularly in low-blast or atypical presentations. Overexpression of CD123 and CD86 in <i>CBFB::MYH11</i> may have diagnostic and therapeutic relevance.</p>

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Core Binding Factor Acute Myeloid Leukemia Cases in the World Health Organization 2022 Era: A North Indian Cohort Study of 196 Cases with Focus on Diagnostic and Immunophenotypic Features

  • 期刊论文

  • 发表日期：

    2025年9月13日

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  • Chandan Bhatia,
  • Pulkit Rastogi,
  • Manupdesh Singh Sachdeva,
  • Shano Naseem,
  • Deepak Bansal,
  • Jogeshwar Binota,
  • Nabhajit Mallik,
  • Arihant Jain,
  • Pankaj Malhotra

摘要

Core Binding Factor Acute Myeloid Leukemia (CBF-AML), defined by RUNX1::RUNX1T1 or CBFB::MYH11 fusions, represents a biologically favorable AML subtype. The Indian data—especially under WHO 2022 criteria—are limited. This study analyzed the demographic, morphological, and immunophenotypic spectrum of CBF-AML in a large North Indian cohort, focusing on pediatric–adult differences, low-blast presentations, and immunophenotypic signatures.An ambispective study (2017–2024) of 196 genetically confirmed CBF-AML cases included clinical, hematopathological, and flow cytometric evaluation. Statistical comparisons were performed using appropriate tests. CBF-AML constituted 16.4% of all AML cases, more frequent in pediatric (44.2%) than adults (11.1%). RUNX1::RUNX1T1 accounted for 85.7% and CBFB::MYH11 for 14.3%. Age-stratified analysis showed higher rates of lymphadenopathy, hepatomegaly, and splenomegaly in CBFB::MYH11 patients aged 41–60 years (p < 0.05). Extramedullary disease occurred in 11.2%. Sixteen patients (8.2%) had <20% marrow blasts, often mimicking myelodysplastic/myeloproliferative neoplasms (MDS/MPN), underscoring the need for molecular testing irrespective of blast count. Morphologically, CBFB::MYH11 was associated with myelomonocytic features and eosinophilia; RUNX1::RUNX1T1 showed dysgranulopoiesis and long slender Auer rods. Immunophenotyping revealed CD123 and CD86 overexpression in CBFB::MYH11 (90% and 83.3%, respectively) besides higher expression of monocytic markers. RUNX1::RUNX1T1 showed frequent CD19, CD22, and CD56 expression. Survival analysis limited to a small treated subset (n = 30), revealed complete remission rate of 76.7% following induction, with median overall and relapse-free survival of 408 and 215 days, respectively. This largest single-center Indian series of CBF-AML in the WHO 2022 era highlights subtype-specific clinicopathological patterns, reaffirms classic morphology, and emphasizes routine molecular testing, particularly in low-blast or atypical presentations. Overexpression of CD123 and CD86 in CBFB::MYH11 may have diagnostic and therapeutic relevance.