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一名长期接受类固醇治疗的巨细胞动脉炎患者出现孤立性中枢神经系统症状,诊断为成熟型T淋巴细胞母细胞白血病/淋巴瘤

Mature Type T-Lymphoblastic Leukemia/Lymphoma Presenting With Isolated Central Nervous System Symptomatology in a Patient With Giant Cell Arteritis on Long-Term Steroid Treatment.

作者信息

Smith John Kolton, Zhang Xinmin, Machnicki Stephen C, Azhar Salman, Vojnic Morana

机构信息

Department of Medicine, Lenox Hill Hospital, Northwell Health, New York, NY, USA.

Department of Pathology, Northwell Health, Greenvale, NY, USA.

出版信息

J Hematol. 2023 Feb;12(1):42-48. doi: 10.14740/jh1037. Epub 2023 Feb 25.

Abstract

T-lymphoblastic leukemia/lymphoma (T-ALL/T-LBL) is a malignancy comprised of T-lymphoblasts that can present as one of four clinical subtypes (pro-T, pre-T, cortical T, and mature T). Clinical presentation is typically characterized by leukocytosis with diffuse lymphadenopathy and/or hepatosplenomegaly. Beyond clinical presentation, specific immunophenotypic and cytogenetic classifications are utilized to diagnose mature T-ALL. In later disease stages it can spread to the central nervous system (CNS); however, presentation of mature T-ALL by way of CNS pathology and clinical symptomatology alone is rare. Even more rare is the presence of poor prognostic factors without correlating significant clinical presentation. We present a case of mature T-ALL in an elderly female with isolated CNS symptoms in combination with poor prognostic factors including terminal deoxynucleotidyl transferase (TdT) negativity and a complex karyotype. Our patient lacked the classical symptomatology and laboratory findings of mature T-ALL but deteriorated quickly upon diagnosis due to the aggressive genetic profile of her cancer.

摘要

T淋巴细胞母细胞白血病/淋巴瘤(T-ALL/T-LBL)是一种由T淋巴细胞母细胞组成的恶性肿瘤,可表现为四种临床亚型之一(原T细胞型、前T细胞型、皮质T细胞型和成熟T细胞型)。临床表现通常以白细胞增多伴弥漫性淋巴结病和/或肝脾肿大为特征。除临床表现外,还利用特定的免疫表型和细胞遗传学分类来诊断成熟T-ALL。在疾病后期,它可扩散至中枢神经系统(CNS);然而,仅通过CNS病理学和临床症状表现出成熟T-ALL的情况很少见。更罕见的是存在不良预后因素却无明显相关临床表现。我们报告一例老年女性成熟T-ALL病例,其仅有中枢神经系统症状,并伴有包括末端脱氧核苷酸转移酶(TdT)阴性和复杂核型在内的不良预后因素。我们的患者缺乏成熟T-ALL的典型症状和实验室检查结果,但由于其癌症具有侵袭性的基因特征,诊断后病情迅速恶化。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9c23/9990713/f0609595258c/jh-12-042-g001.jpg

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