Department of Anatomic and Clinical Pathology, Virginia Commonwealth University, Richmond, Virginia, USA.
Departments of Cytogenetics and Molecular Diagnostics, Virginia Commonwealth University, Richmond, Virginia, USA.
Genes Chromosomes Cancer. 2022 Aug;61(8):491-496. doi: 10.1002/gcc.23039. Epub 2022 Mar 30.
Non-Down-syndrome-related acute megakaryoblastic leukemia (non-DS-AMKL) is a rare form of leukemia that can present with a variety of initial symptoms, including fever, rash, bruising, bleeding, or other more clinically challenging symptoms. Herein, we describe a 19-month-old female patient who presented with left lower extremity pain and language regression who was diagnosed with AMKL, not otherwise specified (NOS), on the basis of peripheral blood and bone marrow analysis, as well as cytogenetic and molecular diagnostic phenotyping. Of note, in addition to this patient's karyotype showing trisomy 3, a fusion between CBFA2T3 (core-binding factor, alpha subunit 2, translocated to, 3) on chromosome 16 and GLIS2 (GLIS family zinc finger protein 2), also on chromosome 16, was observed. Patients with AMKL who have trisomy 3 with CBFA2T3::GLIS2 fusions are rare, and it is not known if the co-occurrence of these abnormalities is coincidental or biologically related. This highlights the continued need for further expansion of genetic testing in individuals with rare disease to establish the groundwork for identifying additional commonalities that could potentially be used to identify therapeutic targets or improve prognostication.
非唐氏综合征相关的急性巨核细胞白血病（non-DS-AMKL）是一种罕见的白血病形式，可表现出多种初始症状，包括发热、皮疹、瘀斑、出血或其他更具临床挑战性的症状。在此，我们描述了一名 19 个月大的女性患者，她因左下肢疼痛和语言倒退就诊，根据外周血和骨髓分析以及细胞遗传学和分子诊断表型，诊断为非特指性 AMKL。值得注意的是，除了该患者的核型显示三体 3 外，还观察到 16 号染色体上的 CBFA2T3（核心结合因子，α亚基 2，易位至 3）与 16 号染色体上的 GLIS2（GLIS 家族锌指蛋白 2）之间的融合。患有三体 3 合并 CBFA2T3::GLIS2 融合的 AMKL 患者较为罕见，尚不清楚这些异常的同时发生是偶然还是具有生物学相关性。这突显了在患有罕见疾病的个体中进一步扩展基因检测的持续需求，以为确定潜在的治疗靶点或改善预后的其他共性奠定基础。
