Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML
Background. Lysine methyltransferase 2A (KMT2A) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between KMT2A-rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childho...
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| Format: | Article |
| Language: | English |
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Wiley
2024-01-01
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| Series: | Case Reports in Hematology |
| Online Access: | http://dx.doi.org/10.1155/2024/7151394 |
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| author | Liesbeth Vanheeswijck Sanjay Tewari Robin Dowse Nicola Potter Jelena Jovanovic Caroline L. Furness Elsje Van Rijswijk |
| author_facet | Liesbeth Vanheeswijck Sanjay Tewari Robin Dowse Nicola Potter Jelena Jovanovic Caroline L. Furness Elsje Van Rijswijk |
| author_sort | Liesbeth Vanheeswijck |
| collection | DOAJ |
| description | Background. Lysine methyltransferase 2A (KMT2A) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between KMT2A-rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. Case Report. We report a case of a 20-month-old girl, who presented with lethargy, recurrent infections, bruising, and marked hepatosplenomegaly. JMML was suspected after initial work-up, revealing an abnormal monocytosis without blast excess on immunophenotyping. The additional cytogenetic and molecular diagnostics, revealing a KMT2A rearrangement, was decisive for the confirmation of AML. Conclusion. This case highlights the challenges of diagnosing KMT2A-rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between KMT2A-rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted. |
| format | Article |
| id | doaj-art-8e8acbb3424f46bcb8a70c565882db45 |
| institution | Kabale University |
| issn | 2090-6579 |
| language | English |
| publishDate | 2024-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Hematology |
| spelling | doaj-art-8e8acbb3424f46bcb8a70c565882db452025-02-03T10:56:48ZengWileyCase Reports in Hematology2090-65792024-01-01202410.1155/2024/7151394Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AMLLiesbeth Vanheeswijck0Sanjay Tewari1Robin Dowse2Nicola Potter3Jelena Jovanovic4Caroline L. Furness5Elsje Van Rijswijk6Department of Paediatric Haemato-OncologyDepartment of Paediatric Haemato-OncologyDepartment of Paediatric Haemato-OncologyDepartment of Medical and Molecular GeneticsDepartment of Medical and Molecular GeneticsDepartment of Paediatric Haemato-OncologyDepartment of Paediatric Haemato-OncologyBackground. Lysine methyltransferase 2A (KMT2A) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between KMT2A-rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. Case Report. We report a case of a 20-month-old girl, who presented with lethargy, recurrent infections, bruising, and marked hepatosplenomegaly. JMML was suspected after initial work-up, revealing an abnormal monocytosis without blast excess on immunophenotyping. The additional cytogenetic and molecular diagnostics, revealing a KMT2A rearrangement, was decisive for the confirmation of AML. Conclusion. This case highlights the challenges of diagnosing KMT2A-rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between KMT2A-rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted.http://dx.doi.org/10.1155/2024/7151394 |
| spellingShingle | Liesbeth Vanheeswijck Sanjay Tewari Robin Dowse Nicola Potter Jelena Jovanovic Caroline L. Furness Elsje Van Rijswijk Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML Case Reports in Hematology |
| title | Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML |
| title_full | Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML |
| title_fullStr | Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML |
| title_full_unstemmed | Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML |
| title_short | Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML |
| title_sort | pitfalls in diagnosis jmml versus kmt2a rearranged juvenile aml |
| url | http://dx.doi.org/10.1155/2024/7151394 |
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