Striking erythroid multinuclearity in a case of pediatric Acute Myeloid Leukemia with Myelodysplasia related changes – a case report with diagnosis revisited in the light of previous vs updated classifications !

Omer Javed,Hamza Ali Khan, Anila Aali, Kamal Ahmad,Fatima Meraj

Research Square (Research Square)(2023)

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摘要
Abstract Background Acute myeloid leukemia (AML) having dysplastic changes is categorized in World Health Organization (WHO) Classification of hematopoietic and lymphoid tumors 2017 as Acute myeloid leukemia with myelodysplasia-related changes (AML-MRC). It is a high-risk disease of adult population having poor patient outcomes. It is rarely seen in pediatric population. Labelling such a diagnosis in a pediatric patient is a challenge which is dealt with correlation between clinical presentation, morphological dysplasia and cytogenetic/molecular abnormalities. The new updated classifications of hematolymphoid neoplasms have modified this entity and refined it. Case presentation: Here we present an interesting case of an 11-year-old male child, who presented to us with fever and lymphadenopathy. Bone marrow biopsy performed revealed > 20% myeloblasts and > 50% dysplasia in erythroid precursors and megakaryocytes. The most interesting finding of the case was bizarre erythroid dysplasia. The case was concluded as AML-MRC as per WHO Classification 2017. The case is revisited in the light of the new updated classifications and key learning points are discussed in detail with review of literature. Conclusions In the light of revised World Health Organization (WHO) Classification 2022 and the new International Consensus Classification (ICC) 2022, this case could be either AML with myelodysplasia related gene mutations or AML with myelodysplasia related cytogenetic abnormalities. The present case highlight spectrum of dysplasia in AMLs and show that such cases could be seen in pediatric population as well.
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pediatric acute myeloid leukemia,erythroid multinuclearity,myelodysplasia
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