PDF(Pubmed)
Abstract：
UNASSIGNED: Acute promyelocytic leukemia (APL) is rarely caused by the PLZF::RARα fusion gene. While APL patients with PLZF::RARα fusion commonly exhibit diverse hematologic symptoms, the presentation of myeloid sarcoma (MS) as an initial manifestation is infrequent.
UNASSIGNED: 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 in situ 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 PLZF::RARα fusion gene, confirming the diagnosis of APL.
UNASSIGNED: In the present study, we report the clinical features and outcome of a rare APL patient characterized by a cryptic PLZF::RARα 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.
UNASSIGNED: 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 in situ 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 PLZF::RARα fusion gene, confirming the diagnosis of APL.
UNASSIGNED: In the present study, we report the clinical features and outcome of a rare APL patient characterized by a cryptic PLZF::RARα 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.
摘要：
■急性早幼粒细胞白血病（APL）很少由PLZF::RARα融合基因引起。虽然PLZF::RARα融合的APL患者通常表现出不同的血液学症状，髓样肉瘤（MS）作为初始表现很少出现。
■一名61岁的患者被转诊至我院，有6个月的腰背痛和行走困难的病史。在这次录取之前,在另一家医院进行的脊柱磁共振成像（MRI）显示，左髂骨和横跨胸部的椎体（T11-T12）有多个异常信号，腰椎（L1-L4），和骶骨（S1/S3）区。这导致了原因不明的骨肿瘤的临时诊断。一入场,全血细胞计数（CBC）测试和外周血涂片显示单核细胞计数略有增加。脊髓和骨髓（BM）活检的免疫组织化学染色显示CD117，髓过氧化物酶（MPO）的阳性表达，和溶菌酶.BM抽吸物显示早幼粒细胞百分比显着升高（21％），其形态特征是圆形核和高颗粒细胞质。BM抽吸物的多参数流式细胞术显示，母细胞对CD13，CD33，CD117和MPO呈阳性。通过染色体分析的综合应用,荧光原位杂交（FISH），逆转录聚合酶链反应(RT-PCR),和Sanger测序,确定患者具有正常核型和罕见的隐匿性PLZF::RARα融合基因，确认APL的诊断。
■在本研究中，我们报告了1例罕见APL患者的临床特征和结局,其特征是隐匿性PLZF::RARα融合和脊髓髓样肉瘤(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，而且强调了及时考虑APL和MS之间的潜在联系以确保及时诊断和个性化治疗的迫切需要。
■一名61岁的患者被转诊至我院，有6个月的腰背痛和行走困难的病史。在这次录取之前,在另一家医院进行的脊柱磁共振成像（MRI）显示，左髂骨和横跨胸部的椎体（T11-T12）有多个异常信号，腰椎（L1-L4），和骶骨（S1/S3）区。这导致了原因不明的骨肿瘤的临时诊断。一入场,全血细胞计数（CBC）测试和外周血涂片显示单核细胞计数略有增加。脊髓和骨髓（BM）活检的免疫组织化学染色显示CD117，髓过氧化物酶（MPO）的阳性表达，和溶菌酶.BM抽吸物显示早幼粒细胞百分比显着升高（21％），其形态特征是圆形核和高颗粒细胞质。BM抽吸物的多参数流式细胞术显示，母细胞对CD13，CD33，CD117和MPO呈阳性。通过染色体分析的综合应用,荧光原位杂交（FISH），逆转录聚合酶链反应(RT-PCR),和Sanger测序,确定患者具有正常核型和罕见的隐匿性PLZF::RARα融合基因，确认APL的诊断。
■在本研究中，我们报告了1例罕见APL患者的临床特征和结局,其特征是隐匿性PLZF::RARα融合和脊髓髓样肉瘤(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，而且强调了及时考虑APL和MS之间的潜在联系以确保及时诊断和个性化治疗的迫切需要。
