Ma S K, Chow E Y, Wan T S, Chan L C
Department of Pathology, Queen Mary Hospital, Hong Kong.
Br J Haematol. 1997 Jul;98(1):213-5. doi: 10.1046/j.1365-2141.1997.1702992.x.
Robertsonian translocations, although relatively common as a constitutional genetic aberration, are rarely encountered in leukaemia. We report a case of acute myeloid leukaemia which showed an acquired Robertsonian translocation in the form of der(14;21) by cytogenetic analysis of leukaemic cells. This was confirmed by the PHA-stimulated culture of peripheral blood lymphocytes. A review of the literature identifies only eight reported cases of acquired Robertsonian translocations in leukaemia. In the majority of cases the Robertsonian translocation occurs as a secondary change in a complex abnormal clone, whereas in two out of nine patients reported, including ours, it is found as a sole karyotypic abnormality.
罗伯逊易位作为一种染色体遗传性畸变虽然相对常见，但在白血病中却很少见。我们报告了一例急性髓系白血病病例，通过对白血病细胞进行细胞遗传学分析，发现其呈现出der(14;21)形式的获得性罗伯逊易位。这通过外周血淋巴细胞的PHA刺激培养得到了证实。文献综述仅发现八例白血病中获得性罗伯逊易位的报道病例。在大多数病例中，罗伯逊易位是复杂异常克隆中的继发改变，而在包括我们的病例在内的九例报告患者中有两例，其是唯一的核型异常。
