Zhang Xuejiao, Wang Tao, Chen Pu, Chen Yan, Wang Zhimei, Xu Tianhong, Yu Pengfei, Liu Peng
Department of Hematology, Zhongshan Hospital, Fudan University, Shanghai, China.
Department of Hematology, Zhongshan Hospital (Minhang Meilong Branch), Fudan University and Shanghai Geriatric Medical Center, Shanghai, China.
Front Oncol. 2024 May 21;14:1375737. doi: 10.3389/fonc.2024.1375737. eCollection 2024.
Acute promyelocytic leukemia (APL) is rarely caused by the fusion gene. While APL patients with fusion commonly exhibit diverse hematologic symptoms, the presentation of myeloid sarcoma (MS) as an initial manifestation is infrequent.
A 61-year-old patient was referred to our hospital with 6-month history of low back pain and difficulty walking. Before this admission, spine magnetic resonance imaging (MRI) conducted at another hospital revealed multiple abnormal signals in the left iliac bone and vertebral bodies spanning the thoracic (T11-T12), lumbar (L1-L4), and sacral (S1/S3) regions. This led to a provisional diagnosis of bone tumors with an unknown cause. On admission, complete blood count (CBC) test and peripheral blood smear revealed a slightly increased counts of monocytes. Immunohistochemical staining of both spinal and bone marrow (BM) biopsy revealed positive expression for CD117, myeloperoxidase (MPO), and lysozyme. BM aspirate showed a significant elevation in the percentage of promyelocytes (21%), which were morphologically characterized by round nuclei and hypergranular cytoplasm. Multiparameter flow cytometry of BM aspirate revealed that blasts were positive for CD13, CD33, CD117, and MPO. Through the integrated application of chromosome analysis, fluorescence hybridization (FISH), reverse transcriptase polymerase chain reaction (RT-PCR), and Sanger sequencing, it was determined that the patient possessed a normal karyotype and a rare cryptic fusion gene, confirming the diagnosis of APL.
In the present study, we report the clinical features and outcome of a rare APL patient characterized by a cryptic fusion and spinal myeloid sarcoma (MS) as the initial presenting symptom. Our study not only offers valuable insights into the heterogeneity of APL clinical manifestations but also emphasizes the crucial need to promptly consider the potential link between APL and MS for ensuring a timely diagnosis and personalized treatments.
急性早幼粒细胞白血病（APL）很少由融合基因引起。虽然伴有融合的APL患者通常表现出多种血液学症状，但以髓系肉瘤（MS）为首发表现并不常见。
一名61岁患者因背痛和行走困难6个月转诊至我院。此次入院前，在另一家医院进行的脊柱磁共振成像（MRI）显示左髂骨和跨越胸段（T11 - T12）、腰段（L1 - L4）和骶段（S1/S3）的椎体有多个异常信号。这导致初步诊断为病因不明的骨肿瘤。入院时，全血细胞计数（CBC）检查和外周血涂片显示单核细胞计数略有增加。脊柱和骨髓（BM）活检的免疫组织化学染色显示CD117、髓过氧化物酶（MPO）和溶菌酶呈阳性表达。骨髓穿刺显示早幼粒细胞百分比显著升高（21%），其形态特征为圆形核和颗粒增多的细胞质。骨髓穿刺的多参数流式细胞术显示原始细胞CD13、CD33、CD117和MPO呈阳性。通过综合应用染色体分析、荧光原位杂交（FISH）、逆转录聚合酶链反应（RT-PCR）和桑格测序，确定患者核型正常且存在罕见的隐匿性融合基因，确诊为APL。
在本研究中，我们报告了一名罕见的APL患者的临床特征和结局，其特征为隐匿性融合和以脊髓髓系肉瘤（MS）为首发症状。我们的研究不仅为APL临床表现的异质性提供了有价值的见解，还强调了及时考虑APL与MS之间潜在联系以确保及时诊断和个性化治疗的迫切需要。
