Gutiérrez-Jimeno Miriam, Panizo-Morgado Elena, Calvo-Imirizaldu Marta, Galán-Gómez Víctor, Escudero-López Adela, Patiño-García Ana
Department of Pediatrics, University Clinic of Navarra, Pamplona, Spain.
Division of Neuroradiology, Department of Radiology, University Clinic of Navarra, Pamplona, Spain.
Front Pediatr. 2022 Jun 29;10:875510. doi: 10.3389/fped.2022.875510. eCollection 2022.
We report the case of a 7-month-old female patient who developed acute megakaryoblastic leukemia 6 months after the appearance of skull bone lesions. Initial evaluation and diagnosis of this patient were challenging and only achieved thanks to genomic analysis by NGS (next generation sequencing). It is unusual for the initial manifestation of acute megakaryoblastic leukemia to be a skull bone lesion. Extramedullary acute myeloid leukemia (eAML), also known as myeloid sarcoma (MS), often occurs simultaneously with acute myeloid leukemia (AML), although it may precede AML. Genomic analysis based on a NGS panel (Oncomine Childhood Cancer Research Assay) detected a fusion, a consequence of a (1;22)(p13;q13) translocation, establishing the diagnosis of acute megakaryoblastic leukemia and enabling disease follow-up by qPCR. A diagnosis of eAML is built up from various findings in radiological, histological, immunophenotypic and genomic studies; when the tumor appears , diagnosis is more complicated. We emphasize the importance of a multidisciplinary team in the initial approach to rare tumors and the use of genomic studies to contribute to the knowledge of these neoplasms, risk stratification and treatment planning.
我们报告了一例7个月大的女性患者，该患者在出现颅骨病变6个月后患上急性巨核细胞白血病。对该患者的初步评估和诊断颇具挑战性，多亏了通过二代测序（NGS）进行的基因组分析才得以实现。急性巨核细胞白血病以颅骨病变为初始表现的情况并不常见。髓外急性髓系白血病（eAML），也称为髓肉瘤（MS），通常与急性髓系白血病（AML）同时发生，尽管它可能先于AML出现。基于NGS panel（Oncomine Childhood Cancer Research Assay）的基因组分析检测到一种由t(1;22)(p13;q13)易位导致的融合，从而确立了急性巨核细胞白血病的诊断，并通过定量聚合酶链反应（qPCR）对疾病进行随访。eAML的诊断是基于放射学、组织学、免疫表型和基因组研究中的各种发现而建立的；当肿瘤表现不典型时，诊断会更加复杂。我们强调多学科团队在罕见肿瘤初始诊疗中的重要性，以及利用基因组研究来增进对这些肿瘤的了解、进行风险分层和制定治疗计划。
