Hjalmar V, Kimby E, Matutes E, Sundström C, Jacobsson B, Arvidsson I, Hast R
Department of Medicine, Karolinska Institutet, Danderyd Hospital, Sweden.
Haematologica. 1998 Jul;83(7):602-9.
Although the finding of trisomy 12 in B-cell malignancies has been extensively documented especially in B-CLL, little is known about the clonal involvement of different tissues and there are few sequential studies documenting the development of trisomy 12 during the course of the disease. The aim of this study was, therefore, to: 1) ascertain the prevalence of trisomy 12 by FISH; 2) correlate the findings of trisomy 12 with hematologic and clinical features; 3) study the trisomy 12 positive clone during the course of the disease, and 4) compare findings of trisomy 12 in different tissues.
This a study of an unselected population of 118 patients with CLL or other B-cell disorders in leukemic phase from a defined geographic area. Trisomy 12 was detected by FISH.
Trisomy 12 was found in 18 patients (15%). The aberration was significantly more common in morphologically atypical CLL (aCLL) (24%) and CLL/PL (67%) compared to typical CLL (2%) (p < 0.001). aCLL cases had predominantly lymphocytes with lymphoplasmacytoid features. Sequential studies of peripheral blood showed an increase in the proportion of trisomic cells during the observation time, mostly associated with disease progression. None of the initially trisomy 12 negative patients acquired the aberration during follow-up. The percentage of lymphocytes exhibiting trisomy 12 was significantly (p < 0.05) higher in the bone marrow than in peripheral blood.
Trisomy 12 might define a distinct disease entity with atypical lymphocytes in chronic leukemic B-cell disorders.
尽管在B细胞恶性肿瘤中发现12号染色体三体已被广泛记录，尤其是在B细胞慢性淋巴细胞白血病（B-CLL）中，但对于不同组织的克隆性受累情况知之甚少，且很少有连续研究记录疾病过程中12号染色体三体的发展情况。因此，本研究的目的是：1）通过荧光原位杂交（FISH）确定12号染色体三体的患病率；2）将12号染色体三体的结果与血液学和临床特征相关联；3）研究疾病过程中的12号染色体三体阳性克隆；4）比较不同组织中12号染色体三体的结果。
这是一项对来自特定地理区域的118例处于白血病期的CLL或其他B细胞疾病患者的非选择性人群的研究。通过FISH检测12号染色体三体。
在18例患者（15%）中发现了12号染色体三体。与典型CLL（2%）相比，这种异常在形态学非典型CLL（aCLL）（24%）和CLL/PL（67%）中明显更常见（p<0.001）。aCLL病例主要是具有淋巴浆细胞样特征的淋巴细胞。外周血的连续研究显示，在观察期内三体细胞的比例增加，主要与疾病进展相关。最初12号染色体三体阴性的患者在随访期间均未获得这种异常。骨髓中显示12号染色体三体的淋巴细胞百分比显著高于外周血（p<0.05）。
12号染色体三体可能定义了一种慢性白血病性B细胞疾病中具有非典型淋巴细胞的独特疾病实体。
