Pitfalls in Diagnosis: JMML versus KMT2A Rearranged Juvenile AML.

IF 0.7 Q4 HEMATOLOGY

Case Reports in Hematology Pub Date : 2024-09-06 eCollection Date: 2024-01-01 DOI:10.1155/2024/7151394

Liesbeth Vanheeswijck, Sanjay Tewari, Robin Dowse, Nicola Potter, Jelena Jovanovic, Caroline L Furness, Elsje Van Rijswijk

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引用次数: 0

Abstract

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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诊断陷阱：JMML与KMT2A重排的青少年急性髓细胞白血病。

背景：赖氨酸甲基转移酶 2A（KMT2A）重排常见于幼年急性髓细胞白血病（AML）。尽管KMT2A重排的急性髓细胞白血病与幼年髓单核细胞白血病（JMML）是两种不同的疾病，但两者之间存在已知的临床重叠。这两种疾病都发生在婴儿期或儿童早期，表现为异常单核细胞增多。病例报告。我们报告了一例 20 个月大的女孩，她表现为嗜睡、反复感染、瘀伤和明显的肝脾肿大。经初步检查，免疫分型显示单核细胞异常，但无鼓泡过多，因此怀疑为 JMML。额外的细胞遗传学和分子诊断发现了KMT2A重排，这对确诊急性髓细胞白血病起了决定性作用：本病例凸显了诊断 KMT2A 重排单核细胞急性髓细胞性白血病的挑战，以及仔细的形态学评估与细胞遗传学和分子诊断相结合对区分 KMT2A 重排急性髓细胞性白血病和 JMML 的重要性。此外，还强调了分子监测在急性髓细胞性白血病中的新兴作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Case Reports in Hematology HEMATOLOGY-

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审稿时长

13 weeks