Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation

Pediatric acute myeloid leukemia (AML) is heterogeneous, and molecular genetics strongly influence prognosis. Although t(8;21) AML is considered favorable, additional mutations such as ASXL1 can worsen outcomes. We report a 13-year-old boy with 2 months of fever, pancytopenia, and disseminated MRSA abscesses. Bone marrow showed myelokathexis but no blasts. Immunological evaluation excluded WHIM syndrome and inborn errors of immunity. After infection control and transient hematologic recovery, the child relapsed with recurrent fever and cytopenia. Peripheral smear revealed 85% myeloblasts; bone marrow confirmed AML with t(8;21), monosomy Y, del(9q), and ASXL1 mutation. He achieved remission with cytarabine-based induction and consolidation, but hematopoietic stem cell transplantation (HSCT) was declined. This case illustrates the diagnostic challenge of prolonged cytopenia and infection preceding AML. Myelokathexis suggested immune dysfunction but ultimately represented an early clonal abnormality. Although t(8;21) is favorable, ASXL1 mutation confers high-risk biology, supporting HSCT in first remission. Children with unexplained cytopenia require vigilant monitoring and genomic profiling. Integration of molecular risk factors should guide individualized treatment strategies.

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Publication Details

Journal
Pediatric and Developmental Pathology
Published
2026-05-21
DOI
https://doi.org/10.1177/10935266261450247
Primary Topic
Acute Myeloid Leukemia Research
Type
article
Field-Weighted Citation Impact
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article

Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation

Neema Tiwari, Nita Radhakrishnan, Sudipto Bhattacharya, Anuj Singh et al.
Pediatric and Developmental Pathology
Acute Myeloid Leukemia Research
article

Disseminated MRSA and Myelokathexis Preceding AML with t(8;21) and ASXL1 Mutation

Neema Tiwari, Nita Radhakrishnan, Sudipto Bhattacharya, Anuj Singh, Aditi Tulsiyan, Hari Gaire
article en

Abstract

Pediatric acute myeloid leukemia (AML) is heterogeneous, and molecular genetics strongly influence prognosis. Although t(8;21) AML is considered favorable, additional mutations such as ASXL1 can worsen outcomes. We report a 13-year-old boy with 2 months of fever, pancytopenia, and disseminated MRSA abscesses. Bone marrow showed myelokathexis but no blasts. Immunological evaluation excluded WHIM syndrome and inborn errors of immunity. After infection control and transient hematologic recovery, the child relapsed with recurrent fever and cytopenia. Peripheral smear revealed 85% myeloblasts; bone marrow confirmed AML with t(8;21), monosomy Y, del(9q), and ASXL1 mutation. He achieved remission with cytarabine-based induction and consolidation, but hematopoietic stem cell transplantation (HSCT) was declined. This case illustrates the diagnostic challenge of prolonged cytopenia and infection preceding AML. Myelokathexis suggested immune dysfunction but ultimately represented an early clonal abnormality. Although t(8;21) is favorable, ASXL1 mutation confers high-risk biology, supporting HSCT in first remission. Children with unexplained cytopenia require vigilant monitoring and genomic profiling. Integration of molecular risk factors should guide individualized treatment strategies.

Pediatric and Developmental Pathology
Institute of Child Health (IN)
Good health and well-being
Openalex Percentile: Top 6%
Acute Myeloid Leukemia Research
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