Liesbeth Vanheeswijck, Sanjay Tewari, Robin Dowse, Nicola Potter, Jelena Jovanovic, Caroline L Furness, Elsje Van Rijswijk
{"title":"诊断陷阱：JMML与KMT2A重排的青少年急性髓细胞白血病。","authors":"Liesbeth Vanheeswijck, Sanjay Tewari, Robin Dowse, Nicola Potter, Jelena Jovanovic, Caroline L Furness, Elsje Van Rijswijk","doi":"10.1155/2024/7151394","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Lysine methyltransferase 2A (<i>KMT2A</i>) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between <i>KMT2A</i>-rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. <i>Case Report</i>. 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 <i>KMT2A</i> rearrangement, was decisive for the confirmation of AML.</p><p><strong>Conclusion: </strong>This case highlights the challenges of diagnosing <i>KMT2A</i>-rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between <i>KMT2A</i>-rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted.</p>","PeriodicalId":46307,"journal":{"name":"Case Reports in Hematology","volume":null,"pages":null},"PeriodicalIF":0.7000,"publicationDate":"2024-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11398955/pdf/","citationCount":"0","resultStr":"{\"title\":\"Pitfalls in Diagnosis: JMML versus <i>KMT2A</i> Rearranged Juvenile AML.\",\"authors\":\"Liesbeth Vanheeswijck, Sanjay Tewari, Robin Dowse, Nicola Potter, Jelena Jovanovic, Caroline L Furness, Elsje Van Rijswijk\",\"doi\":\"10.1155/2024/7151394\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Lysine methyltransferase 2A (<i>KMT2A</i>) rearrangements are commonly found in juvenile acute myeloid leukaemia (AML). Although distinct diseases, there is a known clinical overlap between <i>KMT2A</i>-rearranged AML and juvenile myelomonocytic leukaemia (JMML). Both occur in infancy or early childhood and present with abnormal monocytosis. <i>Case Report</i>. 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 <i>KMT2A</i> rearrangement, was decisive for the confirmation of AML.</p><p><strong>Conclusion: </strong>This case highlights the challenges of diagnosing <i>KMT2A</i>-rearranged monocytic AML and the importance of careful morphological assessment in partnership with cytogenetic and molecular diagnostics to distinguish between <i>KMT2A</i>-rearranged AML and JMML. Moreover, the emerging role of molecular monitoring in AML is highlighted.</p>\",\"PeriodicalId\":46307,\"journal\":{\"name\":\"Case Reports in Hematology\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-09-06\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11398955/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Case Reports in Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1155/2024/7151394\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q4\",\"JCRName\":\"HEMATOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Case Reports in Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1155/2024/7151394","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/1/1 0:00:00","PubModel":"eCollection","JCR":"Q4","JCRName":"HEMATOLOGY","Score":null,"Total":0}
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 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.
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