Choi Ilseung, Matsushima Takamitsu, Fujii Tomomi, Shiratsuchi Motoaki, Abe Yasunobu, Nishimura Junji, Nawata Hajime, Muta Koichiro
Department of Medicine and Bioregulatory Science, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan.
Rinsho Ketsueki. 2002 Sep;43(9):836-40.
We describe the case of a 23-year-old man with acute lymphoblastic leukemia in whom the Philadelphia chromosome was first detected in the late stage of the disease. At diagnosis, the patient's leukocyte count was 39,400/microliter and leukemic cells were positive for CD10, 19, 20, 33, 34 and HLA-DR. Karyotypic analysis at diagnosis revealed 46,XY. Complete remission was achieved after the first induction therapy, but the disease recurred after 9 months. The patient underwent allogeneic peripheral blood stem cell transplantation from his HLA identical mother, but relapse occurred on day 80. The proportion of bone marrow lymphoblasts decreased transiently after donor lymphocyte infusion but later increased, and the patient died on day 362. The Philadelphia chromosome was first detected by karyotypic analysis on day 256. p190-type bcr/abl mRNA transcripts were negative following RT-PCR at the initial diagnosis, but became positive from the first relapse through the late stage. Generally, the product of the bcr/abl fusion gene has been thought to play an important role in leukemogenesis, however the present case suggests that this gene product is also related to disease progression.
我们描述了一名23岁急性淋巴细胞白血病男性患者的病例，该患者在疾病晚期首次检测到费城染色体。诊断时，患者白细胞计数为39400/微升，白血病细胞CD10、19、20、33、34和HLA-DR呈阳性。诊断时的核型分析显示为46,XY。首次诱导治疗后实现完全缓解，但9个月后疾病复发。患者接受了来自其HLA配型相同母亲的异基因外周血干细胞移植，但在第80天复发。供体淋巴细胞输注后骨髓原始淋巴细胞比例短暂下降，但随后又升高，患者于第362天死亡。费城染色体于第256天通过核型分析首次检测到。初始诊断时RT-PCR检测p190型bcr/abl mRNA转录本为阴性，但从首次复发到疾病晚期变为阳性。一般认为，bcr/abl融合基因产物在白血病发生中起重要作用，然而本病例表明该基因产物也与疾病进展有关。
