Machaczka Maciej, Markuszewska-Kuczyńska Alicja, Regenthal Sofie, Jurczyszyn Artur, Gałązka Krystyna, Wahlin Björn E, Klimkowska Monika
Pol Arch Med Wewn. 2014;124(11):587-92. doi: 10.20452/pamw.2493. Epub 2014 Sep 3.
In the absence of a known affected family member, frequent symptoms of Gaucher disease (GD), a rare lysosomal storage disorder, such as thrombocytopenia or splenomegaly, often lead to hematological diagnostic workup.
The aim of the study was to compare the clinical utility of aspiration biopsy of the bone marrow (ASP) with trephine biopsy (TB) for the diagnosis of GD type 1 (GD1).
Six non-Jewish patients with sporadic GD1 were initially examined with ASP and TB to establish the cause of cytopenia and splenomegaly. In the current study, samples from each patient consisted of 2 bone marrow slides. On each slide, 500 nucleated cells were counted and then averaged. The composition of bone marrow TBs was assessed using digital images analyzed on a computer.
Of 6 patients, 5 carried at least 1 N370S allele with a c.1226A>G mutation in the GBA1 gene. The median number of Gaucher cells identified during cytological assessment of bone marrow smears was 4 (range, 1-18), and the median percentage of Gaucher cells was 0.4% (range, 0.1%-1.8%). The absolute proportion of Gaucher cells in histological samples ranged from 22% to 36% (median value, 28%), and the ratio of Gaucher cell infiltrate to hematopoietic tissue ranged from 34% to 54% (median value, 47%). The median value of the ratio of Gaucher cells to hematopoietic tissue was strikingly lower when using ASP compared with TB (P = 0.028).
Our results indicate that ASP is not a reliable diagnostic tool for the detection of GD1. Thus, patients with unclear long-lasting splenomegaly and/or thrombocytopenia, in whom bone marrow aspirate cytology is negative for Gaucher cells, should be routinely referred for an enzymatic assay for GD.
在没有已知患病家庭成员的情况下，戈谢病（GD）这种罕见的溶酶体贮积症的常见症状，如血小板减少或脾肿大，常常导致血液学诊断检查。
本研究旨在比较骨髓穿刺活检（ASP）与骨髓活检（TB）对1型戈谢病（GD1）诊断的临床效用。
6例散发性GD1非犹太患者最初接受了ASP和TB检查，以确定血细胞减少和脾肿大的原因。在本研究中，每位患者的样本包括2张骨髓涂片。在每张涂片上，计数500个有核细胞，然后求平均值。使用计算机分析的数字图像评估骨髓活检组织的组成。
6例患者中，5例携带至少1个GBA1基因中c.1226A>G突变的N370S等位基因。骨髓涂片细胞学评估期间鉴定出的戈谢细胞中位数为4（范围为1 - 18），戈谢细胞的中位数百分比为0.4%（范围为0.1% - 1.8%）。组织学样本中戈谢细胞的绝对比例为22%至36%（中位数为28%），戈谢细胞浸润与造血组织的比例为34%至54%（中位数为47%）。与TB相比，使用ASP时戈谢细胞与造血组织的比例中位数显著更低（P = 0.028）。
我们的结果表明，ASP不是检测GD1的可靠诊断工具。因此，对于长期脾肿大和/或血小板减少原因不明且骨髓穿刺细胞学检查戈谢细胞为阴性的患者，应常规转诊进行GD酶学检测。
