Case Series
Year : 2025 Month : October Volume : 14 Issue : 4 Page : PS05 - PS11 Full Version

Unlocking the Genetic Vault of Acute Myeloid Leukaemia: A Series of Five Cases
M Srividhya, M Dougul Regis, K Chandramouleeswari, Umadevi Srinivasan, B Meenakumari
1. Postgraduate Student, Department of Pathology, Madras Medical College, Chennai, Tamil Nadu, India. 2. Assistant Professor, Department of Pathology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India. 3. Professor and Head, Department of Pathology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India. 4. Assistant Professor, Department of Pathology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India. 5. Senior Scientist, Department of Pathology, Institute of Child Health and Hospital for Children, Chennai, Tamil Nadu, India.
 
Correspondence Address :
Dr. M Dougul Regis,
A Block, No.15, Institute of Child Health and Hospital for Children, Egmore,
Chennai, Tamil Nadu, India.
E-mail: dougulregis@gmail.com
 
ABSTRACT
: Acute Myeloid Leukaemia (AML) is a rare disease in children, accounting for approximately 15-20% of paediatric leukaemic cases. Acute Lymphoblastic Leukaemia (ALL) is the most common cause of paediatric leukaemia with a better prognosis. AML is the leading type of paediatric cancer by its relatively high mortality rate, as it is a genetically heterogeneous, aggressive haematological malignancy. AML results from a series of genetic changes in a haematopoietic precursor cell, altering normal haematopoietic growth and differentiation and leading to the accumulation of large numbers of abnormal, immature myeloid cells in the bone marrow and peripheral blood. Genetic abnormalities play a critical role in leukaemogenesis, influencing disease classification, risk stratification and treatment response. This case series presents five paediatric cases of AML, each with distinct clinical, morphological, immunophenotypic and genetic features. Case 1 was diagnosed as AML M7 with a rare t(1;12)(q21;q24) translocation. Case 2, an infant with AML M4 and CBFB-MYH11 fusion, succumbed to sepsis and refractory shock. Case 3, also AML M4, showed FLT3-TKD and IDH1/2 mutations with intermediate prognosis. Case 4, diagnosed as AML M2/M3 variant, had severe infectious complications but attained Minimal Residual Disease (MRD) negativity. Case 5, an AML M4 with multiple mutations including CBFB-MYH11, NPM1, FLT3, and IDH1/2, also achieved remission. These cases highlight the heterogeneity and complexity of paediatric AML.
Keywords : Cytogenetic abnormalities, Disease stratification, Genetic mutations, Paediatric acute myeloid leukaemia, Prognosis, Therapeutic targets
DOI and Others : DOI: 10.7860/NJLM/2025/80580.2933 Date of Submission: May 12, 2025 Date of Peer Review: Jun 17, 2025 Date of Acceptance: Jul 30, 2025 Date of Publishing: Oct 01, 2025 AUTHOR DECLARATION: • Financial or Other Competing Interests: None • Was informed consent obtained from the subjects involved in the study? Yes • For any images presented appropriate consent has been obtained from the subjects. Yes PLAGIARISM CHECKING METHODS: • Plagiarism X-checker: May 13, 2025 • Manual Googling: Jul 21, 2025 • iThenticate Software: Jul 29, 2025 (9%) ETYMOLOGY: Author Origin EMENDATIONS: 7
 
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