Brito-Babapulle V, Matutes E, Oscier D, Mould S, Catovsky D
Academic Department of Haematology and Cytogenetics, Royal Marsden Hospital, London, United Kingdom.
Genes Chromosomes Cancer. 1994 Jul;10(3):197-202. doi: 10.1002/gcc.2870100308.
We describe chromosome abnormalities in 6 patients with hairy cell leukaemia (HCL) variant, a rare B-cell disorder with clinical and laboratory features intermediate between HCL and B-prolymphocytic leukaemia (B-PLL). All but one had marked splenomegaly and a raised white blood cell count (median 40 x 10(9)/l) with over 80% nucleolated hairy cells. These cells had a B-cell immunophenotype distinct from that of typical HCL. All patients but one are alive with stable disease with a median follow-up of 60 months. Numerical chromosome changes included loss of chromosomes 2, 3, 4, 6, 10, 19, 21, and X. three cases had translocations involving the immunoglobulin gene regions: t(14;17)(q32;q11), t(14;22)(q32;q11), and t(2;8)(p11.12;q24). Immunocytochemistry demonstrated the presence of the MYC protein in cells from the case with t(2;8) but not in two others. Other structural abnormalities included t(3;10)(q27;q22) and t(3;12)(q27;q13) in the same patient, der(17)t(7;10;17)(p11;q27;q22), t(1;3)(q25;p21), t(8;21)(p12;q11), t(17;21)(p11;p11), del(6)(q15), del(7)(q34), and del(14)(q24).
我们描述了6例毛细胞白血病（HCL）变异型患者的染色体异常情况。HCL变异型是一种罕见的B细胞疾病，其临床和实验室特征介于HCL和B原淋巴细胞白血病（B-PLL）之间。除1例患者外，其余患者均有明显脾肿大，白细胞计数升高（中位数为40×10⁹/L），核仁毛细胞超过80%。这些细胞具有与典型HCL不同的B细胞免疫表型。除1例患者外，其余患者病情稳定存活，中位随访时间为60个月。染色体数目改变包括2号、3号、4号、6号、10号、19号、21号染色体及X染色体缺失。3例患者发生了涉及免疫球蛋白基因区域的易位：t(14;17)(q32;q11)、t(14;22)(q32;q11)和t(2;8)(p11.12;q24)。免疫细胞化学显示，t(2;8)病例的细胞中存在MYC蛋白，而另外两例中未检测到。其他结构异常包括同一患者的t(3;10)(q27;q22)和t(3;12)(q27;q13)、der(17)t(7;10;17)(p11;q27;q22)、t(1;3)(q25;p21)、t(8;21)(p12;q11)、t(17;21)(p11;p11)、del(6)(q15)、del(7)(q34)和del(14)(q24)。
