Lounici A, Cony-Makhoul P, Dubus P, Lacombe F, Merlio J P, Reiffers J
Service des Maladies du Sang, Hôpital Haut-Lévêque, CHU Bordeaux, Bordeaux, France.
Am J Hematol. 2000 Dec;65(4):319-21. doi: 10.1002/1096-8652(200012)65:4<319::aid-ajh13>3.0.co;2-1.
Lineage switch from AML to ALL is an extremely rare phenomenon, and we report the case of an adult diagnosed with AML at 46 years of age who relapsed with ALL. At initial diagnosis, blast cell morphology and immunophenotyping were consistent with the diagnosis of M4-AML. Complete remission was achieved, and the patient underwent autologous BMT. At relapse, six months after ABMT, blast cells were different from those seen at initial diagnosis, for morphology (L2-ALL), cytochemistry, and immunophenotyping. The karyotype was normal at both diagnosis and relapse. No evidence of bcr-abl fusion genes was found by RT-PCR. Monoclonal IgH and TCR gamma gene rearrangement were evidenced by PCR analysis at relapse but not on blast cells at AML diagnosis.
急性髓系白血病（AML）向急性淋巴细胞白血病（ALL）的谱系转换是一种极其罕见的现象，我们报告了一例46岁被诊断为AML的成人患者，其复发时为ALL。初诊时，原始细胞形态和免疫表型与M4-AML的诊断一致。患者达到完全缓解，并接受了自体骨髓移植（BMT）。在自体骨髓移植后6个月复发时，原始细胞在形态（L2-ALL）、细胞化学和免疫表型方面与初诊时所见不同。诊断和复发时的核型均正常。逆转录聚合酶链反应（RT-PCR）未发现bcr-abl融合基因的证据。复发时通过聚合酶链反应（PCR）分析证实存在单克隆免疫球蛋白重链（IgH）和T细胞受体γ基因重排，但AML诊断时原始细胞未发现此情况。
