Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.
Ann Hematol. 2024 Aug;103(8):3229-3233. doi: 10.1007/s00277-024-05842-5. Epub 2024 Jun 15.
Erdheim-Chester disease (ECD) is a rare histiocytosis that tends to co-exist with other myeloid malignancies. Here, we use genetic and transcriptomic sequencing to delineate a case of co-occurring BRAF-mutated ECD and acute myeloid leukemia (AML), followed by AML remission and relapse. The AML relapse involved the extinction of clones with KMT2A-AFDN and FLT3-ITD, and the predominance of PTPN11-mutated subclones with distinct transcriptomic features. This case report has highlighted the screening for other myeloid malignancies at the diagnosis of ECD and the clinical significance of PTPN11-mutated AML subclones that require meticulous monitoring.
厄尔-道伊姆-切斯特病（ECD）是一种罕见的组织细胞增生症，往往与其他髓系恶性肿瘤共存。在这里，我们使用遗传和转录组测序来描绘一例同时发生的 BRAF 突变型 ECD 和急性髓系白血病（AML）的病例，随后是 AML 缓解和复发。AML 复发涉及 KMT2A-AFDN 和 FLT3-ITD 克隆的消失，以及具有独特转录组特征的 PTPN11 突变亚克隆的优势。本病例报告强调了在 ECD 诊断时筛查其他髓系恶性肿瘤的重要性，以及需要细致监测的 PTPN11 突变 AML 亚克隆的临床意义。
