Cornélis F, Montfort L, Osselaer J C, Sonet A, Doyen C, Chatelain C, Chatelain B, Bosly A
Haematology Division, Mont-Godinne University Hospital (Catholic University of Louvain, Yvoir, Belgium.
Hematol Cell Ther. 1996 Jul;38(3):285-8. doi: 10.1007/s00282-996-0285-4.
Paroxysmal nocturnal haemoglobinuria (PNH) terminating in acute leukaemia (AL) is an infrequent condition. In several cases, flow cytometric analysis of glycosylphosphatidylinositol anchored membrane proteins such as DAF and CD59/MACIF has suggested the leukaemic cells to be derived from the PNH clone, thereby implicating PNH as a potential preleukaemic disease. In the present paper, we review the data for one patient treated in our hospital and 20 cases reported in the literature from 1969 to 1993. The sex ratio is 1 female/2 males, mean age at diagnosis of PNH was 46 years and the mean interval between the diagnoses of PNH and AL was 53 months. AL type was AML M6 in 8 patients, other types of AML in 12 and ALL in one, with a mean survival of 7.1 months following diagnosis of AL. In all cases analyzed, the PNH phenotype of erythrocytes disappeared with progression of AL, whereas reappearance of this phenotype with complete remission of AL was inconstant. PNH would thus appear to be a potential preleukemic disease. When this disorder terminates in AL, the type is often AML M6, although ALL is also possible. The prognosis of AL in PNH is poor as for other secondary leukaemias. Apart from marrow aplasia, leukaemic transformation is another life threatening complication of PNH which may justify allogeneic bone marrow transplantation (allo-BMT) and potential leukaemic transformation can therefore be an additional argument in favour of allo-BMT when pancytopenia develops in PNH patients.
阵发性夜间血红蛋白尿（PNH）最终发展为急性白血病（AL）是一种罕见的情况。在一些病例中，对糖基磷脂酰肌醇锚定膜蛋白（如衰变加速因子（DAF）和CD59/膜攻击复合物抑制因子（MACIF））进行流式细胞术分析表明，白血病细胞源自PNH克隆，从而提示PNH可能是一种潜在的白血病前期疾病。在本文中，我们回顾了我院治疗的1例患者以及1969年至1993年文献报道的20例病例的数据。男女比例为1:2，PNH诊断时的平均年龄为46岁，PNH与AL诊断之间的平均间隔为53个月。8例患者的AL类型为急性髓系白血病M6型（AML M6），12例为其他类型的AML，1例为急性淋巴细胞白血病（ALL），AL诊断后的平均生存期为7.1个月。在所有分析的病例中，随着AL的进展，红细胞的PNH表型消失，而随着AL完全缓解，该表型的再次出现并不恒定。因此，PNH似乎是一种潜在的白血病前期疾病。当这种疾病发展为AL时，类型通常为AML M6，不过ALL也有可能。与其他继发性白血病一样，PNH患者发生AL时预后较差。除了骨髓再生障碍外，白血病转化是PNH的另一种危及生命的并发症，这可能成为进行异基因骨髓移植（allo-BMT）的理由，因此当PNH患者出现全血细胞减少时，潜在的白血病转化可能是支持allo-BMT的另一个理由。
