Giles F J, Kanemaki T J, Schreck R R, Qasabian L, Fuerst M P, Lim S W
Department of Medicine, Cedars-Sinai Medical Center, University of California, Los Angeles School of Medicine, USA.
Cancer Genet Cytogenet. 1998 Jul 1;104(1):66-9. doi: 10.1016/s0165-4608(97)00438-x.
We report a patient with acute myeloid leukemia (AML) and t(3;21;8)(q21;q22;q22). This translocation has not been previously described in de novo or relapsed AML. The patient is a 25-year-old woman who presented with WBC 6.2 x 10(9)/L, Hgb 10.2 g/dL, Hct 28.4%, and platelets 67 x 10(9)/L. A bone marrow biopsy revealed a 70% hematopoietic cellularity with 65% blasts. Immunophenotyping showed aberrant expression of lymphoid-associated marker CD19. Cytogenetic analysis on a 72-hour culture of bone marrow cells supplemented with conditioned media was evaluated by G-banding at about the 400-band level. The patient's age, cytogenetics, WBC, and immunophenotype at diagnosis would seem to suggest a favorable prognosis, according to previous studies of prognostic indicators. She was treated with induction and consolidation chemotherapy, followed by myeloablative conditioning and autologous peripheral blood stem cell transplant (PBSCT). Despite multiple favorable prognostic factors, the patient relapsed 7 months after PBSCT. Translocation of chromosomes 8 and 21 is common in AML and is generally considered a good prognostic factor. We suspect that the effect of the 3q21 translocation in an otherwise favorable translocation of chromosomes 8 and 21 may be responsible for this patient's early relapse.
我们报告了一名患有急性髓系白血病（AML）且存在t(3;21;8)(q21;q22;q22)的患者。这种易位在初发或复发的AML中此前尚未有过描述。该患者为一名25岁女性，就诊时白细胞计数为6.2×10⁹/L，血红蛋白10.2 g/dL，血细胞比容28.4%，血小板计数67×10⁹/L。骨髓活检显示造血细胞比例为70%，原始细胞占65%。免疫表型分析显示淋巴相关标志物CD19表达异常。对补充了条件培养基的骨髓细胞进行72小时培养后的细胞遗传学分析，通过G显带在约400条带水平进行评估。根据先前关于预后指标的研究，该患者诊断时的年龄、细胞遗传学、白细胞计数及免疫表型似乎提示预后良好。她接受了诱导和巩固化疗，随后进行了清髓性预处理及自体外周血干细胞移植（PBSCT）。尽管存在多个有利的预后因素，但该患者在PBSCT后7个月复发。8号和21号染色体易位在AML中很常见，通常被认为是一个良好的预后因素。我们怀疑在原本有利的8号和21号染色体易位情况下，3q21易位的影响可能是该患者早期复发的原因。
