Cho Jinhee, Hur Mina, Moon Hee Won, Yun Yeo Min, Lee Chang Hoon, Lee Hong Ghi
Department of Laboratory Medicine, Konkuk University School of Medicine, Seoul, Korea.
Korean J Lab Med. 2010 Jun;30(3):255-9. doi: 10.3343/kjlm.2010.30.3.255.
ALL with MLL gene rearrangement secondary to chemotherapy has been rarely reported. We report a case of therapy-related ALL (t-ALL) with MLL gene rearrangement in a patient who had undergone treatment for breast cancer. A 60-yr-old woman with breast cancer underwent breast-conserving surgery followed by 6 cycles of adjuvant chemotherapy (cyclophosphamide, epirubicin, and fluorouracil) and radiation therapy (dose, 5,040 cGy to the left breast and a 1,000 cGy boost to the tumor bed). A follow-up examination performed 14 months after the chemotherapy revealed no evidence of breast malignancy. However, the patient's complete blood cell count indicated acute leukemia: white blood cell count, 174.1 x 10(9)/L with 88% blasts; Hb level, 12.5 g/dL; and platelet count, 103.0 x 10(9)/L. Examination of the bone marrow aspirate smear revealed a high percentage of blasts (85.1% of all nucleated cells); the blasts showed a pro-B immunophenotype and were positive for CD19, CD79a, HLA-DR, CD34, and terminal deoxynucleotidyl transferase (TdT). Cytogenetic and FISH analyses revealed t(4;11)(q21;q23) and MLL gene rearrangement, respectively. The patient received induction chemotherapy with cyclophosphamide, vincristine, doxorubicin, and dexamethasone and achieved complete remission. Following consolidation chemotherapy, she underwent allogenic peripheral blood stem cell transplantation and has been clinically stable. To our knowledge, this is the first reported case of t-ALL with MLL gene rearrangement following treatment of breast cancer in Korea.
继发于化疗的伴有MLL基因重排的急性淋巴细胞白血病（ALL）鲜有报道。我们报告了1例在接受乳腺癌治疗的患者中发生的伴有MLL基因重排的治疗相关性ALL（t-ALL）。1例60岁乳腺癌女性患者接受了保乳手术，随后进行了6个周期的辅助化疗（环磷酰胺、表柔比星和氟尿嘧啶）及放射治疗（剂量：左乳5040 cGy，瘤床追加1000 cGy）。化疗后14个月的随访检查未发现乳腺恶性肿瘤迹象。然而，患者的全血细胞计数提示急性白血病：白细胞计数174.1×10⁹/L，原始细胞占88%；血红蛋白水平为12.5 g/dL；血小板计数为103.0×10⁹/L。骨髓穿刺涂片检查显示原始细胞比例很高（占所有有核细胞的85.1%）；原始细胞显示为前B免疫表型，CD19、CD79a、HLA-DR、CD34和末端脱氧核苷酸转移酶（TdT）呈阳性。细胞遗传学和荧光原位杂交（FISH）分析分别显示t(4;11)(q21;q23)和MLL基因重排。患者接受了环磷酰胺、长春新碱、多柔比星和地塞米松的诱导化疗并实现完全缓解。巩固化疗后，她接受了异基因外周血干细胞移植，目前临床状况稳定。据我们所知，这是韩国首例报道的乳腺癌治疗后发生伴有MLL基因重排的t-ALL病例。
