Pazur Marina, Jelić-Puskarić Biljana, Planinc-Peraica Ana, Vrhovac Radovan, Kardum-Skelin Ika, Jaksić Branimir
Laboratory for Cytology and Hematology, Department of Medicine, "Merkur" University Hospital, Zagreb, Croatia.
Coll Antropol. 2010 Jun;34(2):675-8.
Precursor T-cell acute lymphoblastic leukaemia (T-ALL)/lymphoma (T-LBL) is a neoplasm with cytological features that include blast cells of medium size, high nuclear cytoplasmic ratio and inconspicuous nucleoli, which are usually TdT (Terminal Deoxynucleotidyl Transferase) positive and variably express T-cell markers. We report a case of T-ALL with atypical cytological presentation which showed lymphoblasts with homogenous nuclear pattern, larger amounts of cytoplasm with vacuoles and prominent nucleoli. A 56-year-old male was hospitalized due to high fever and kidney infection. Further examination confirmed anemia, thrombocytopenia, normal level of white blood cells and high level of lactat-dehydrogenase (LDH). Bone marrow aspiration revealed 87% and peripheral blood 41% of lymphoblasts with cytoplasmic vacuoles which suggested Burkitt lymphoma (BL) morphology. Patient's karyotype showed no chromosomal aberations. Identification of immunophenotype discovered cells which were CD2 and CD3 positive and CD20 negative with focal acid phosphatase activity in 67% of blasts. This excluded Burkitt lymphoma and led to diagnosis of T-ALL. The patient was submitted to two cycles of chemotherapy, autologous stem cell transplantation, and intrathecal chemotherapy, but he died after 10 months because of disease complications (lung aspergillosis and pleural effusion). Our case report showed how morphology alone can be misleading and sometimes is not enough in diagnosing ALL. Beside morphologic criteria, setting correct diagnosis depends on identification of immunophenotype by flow cytometry and cytogenetic-molecular abnormalities. Further improvements in the molecular definition of ALL subtypes, development of new and targeted drugs will improve patient's outcome and prognosis.
前体T细胞急性淋巴细胞白血病（T-ALL）/淋巴瘤（T-LBL）是一种具有细胞学特征的肿瘤，其特征包括中等大小的原始细胞、高核质比和不明显的核仁，这些细胞通常末端脱氧核苷酸转移酶（TdT）呈阳性，并可变地表达T细胞标志物。我们报告一例具有非典型细胞学表现的T-ALL病例，该病例显示原始淋巴细胞具有均匀的核模式、大量带空泡的细胞质和明显的核仁。一名56岁男性因高热和肾脏感染住院。进一步检查证实贫血、血小板减少、白细胞水平正常以及乳酸脱氢酶（LDH）水平升高。骨髓穿刺显示87%的原始淋巴细胞和外周血41%的原始淋巴细胞带有细胞质空泡，提示伯基特淋巴瘤（BL）形态。患者的核型显示无染色体异常。免疫表型鉴定发现细胞CD2和CD3呈阳性，CD20呈阴性，67%的原始细胞有局灶性酸性磷酸酶活性。这排除了伯基特淋巴瘤，并导致诊断为T-ALL。该患者接受了两个周期的化疗、自体干细胞移植和鞘内化疗，但10个月后因疾病并发症（肺曲霉病和胸腔积液）死亡。我们的病例报告表明，仅靠形态学有时可能会产生误导，在诊断ALL时有时是不够的。除形态学标准外，正确诊断还取决于通过流式细胞术鉴定免疫表型以及细胞遗传学 - 分子异常情况。ALL亚型分子定义的进一步改进、新型靶向药物的开发将改善患者的结局和预后。
