伴PICALM-MLLT10的急性非淋巴细胞白血病2例报告并文献复习

Acute nonlymphoblastic leukemia with PICALM-MLLT10:2 cases report and lecture review

目的探讨伴PICALM-MLLT10(P/M)的急性非淋巴细胞白血病(ANLL)的临床及实验室特征。方法回顾性分析于河南省人民医院确诊的2例P/M+ANLL患者骨髓细胞形态学、遗传学、免疫分型、融合基因特点及治疗经过,并复习相关文献。结果2例患者分别诊断急性髓系白血病微分化型(AML-M0)和急性未分化细胞白血病(AUL),染色体均含有t(10;11)(p13;q14),且均检测到P/M融合基因。2例患者经化疗均未获得完全缓解,分别生存2个月,11个月。复习相关文献发现,全世界共报道42例P/M^(+) ANLL。可确定分型者16例,AUL比例最高,占31.25%。13例有详细临床资料的病例中,行造血干细胞移植(HSCT)者4例,全部获得完全缓解(CR),化疗的9例患者,仅2例获得CR。13例中AUL 3例,染色体均为复杂核型,2例经HSCT获得CR,1患者化疗未获CR;余10例其他亚型AML患者,4例为复杂核型;10例中行HSCT的2例均获得CR,其中1例为复杂核型;余8例中2例化疗获得CR,均为非复杂核型患者。结论P/M^(+) ANLL复杂核型比例高,对化疗反应差,HSCT能使该类患者大概率获得CR,但能否改善预后,仍需更多临床观察。

Objective To investigate the clinical and laboratory characteristics of acute nonlymphoblastic leukemia(ANLL)with PICALM-MLLT10(P/M)fusion gene.Methods The bone marrow cell morphology,cytogenetic abnormalities,immunophenotypes,fusion genetic characteristics and treatment of 2 ANLL patients with P/M fusion gene(P/M+ANLL)diagnosed in Henan provincial People′s Hospital were retrospectively analyzed and related lectures were reviewed.Results The 2 cases were diagnosed as minimally differentiated acute myeloid leukemia(AML-M0)and acute undifferentiated leukemia(AUL)respectively.The t(10;11)(p13;q14)translocation were detected in both cases and the P/M fusion gene were confirmed.Neither of the two patients achieved complete remission(CR)by chemotherapy and case 1 survived for 2 months and case 2 for 11 months.A review of relevant literature found that a total of 42 cases of P/M^(+) ANLL were reported worldwide,16 cases could be classified,of which the proportion of AUL was the highest,accounting for 31.25%.In the 13 cases with detailed clinical data,4 cases of them undertook human stem cell transplantation(HSCT)and all achieved complete remission(CR),while only 2/9 cases got CR by chemotherapy.Of the 13 cases,AUL accounted for 3 cases and all had complex chromosomal abnomalities,2 cases obtained CR by HSCT,1 case did not obtain CR after chemotherapy.In the remaining 10 cases of other subtypes of AML,4 had complex chromosomal abnomalities;2 cases who undertook HSCT both achieved CR,of which 1 case was complex chromosomal abnomalities;2 of the other 8 cases obtained CR after Chemotherapy,all of them were patients with uncomplicated karyotype.Conclusion High percentage of P/M^(+) ANLL cases have complex chromosomal abnomalities and respond poorly to chemotherapy but well to HSCT.Detailed clinical researches areneeded to confirm whether HSCT can improve the survival of such patients.