Johansson B, Billström R, Broberg K, Fioretos T, Nilsson P G, Ahlgren T, Malm C, Samuelsson B O, Mitelman F
Department of Clinical Genetics, Lund University Hospital, Sweden.
Genes Chromosomes Cancer. 1999 Mar;24(3):222-9.
The present study was undertaken to ascertain the frequency of cytogenetic polyclonality in various hematologic malignancies and to investigate whether morphologic subgroup, age, gender, or previous genotoxic exposure influences the incidence. Among 2,243 cytogenetically investigated hematologic malignancies, 10 acute myeloid leukemias (AML), 5 myelodysplastic syndromes (MDS), 2 acute lymphoblastic leukemias (ALL), 1 acute undifferentiated leukemia (AUL), 1 atypical Philadelphia chromosome-negative (Ph-) chronic myeloid leukemia (CML), 1 chronic myeloproliferative disorder (CMD), and 1 chronic lymphoproliferative disorder (CLD) with karyotypically unrelated clones were identified, constituting 2.6% of AML, 1.6% of MDS, 0.8% of ALL, 13% of AUL, 9.1% of Ph- CML, 1.5% of CMD, and 2.8% of CLD with chromosomal abnormalities. In contrast to the cytogenetic features, the X-inactivation pattern was monoclonal in the two informative female patients that could be investigated. Among 17,733 karyotypically aberrant published cases surveyed, significant frequency differences (P < 0.001) were discerned: 1.7% of 6,526 AML, 3.4% of 2,391 MDS, 0.4% of 1,920 Ph+ CML, 2.9% of 856 CMD, 0.9% of 4,226 ALL, and 5.8% of 1,814 CLD displayed unrelated clones. The incidence of cytogenetic polyclonality did not differ significantly among the MDS, CMD, or ALL subgroups, between males and females, between children (< 16 years) and adults, or between B- and T-cell ALL, whereas the frequencies varied among the AML FAB types (P < 0.05), among the different CLD entities (P < 0.001), and between B- and T-cell CLD (P < 0.001). Furthermore, the incidence was higher in therapy-related AML and MDS than in de novo AML and MDS (P < 0.001 and P < 0.01, respectively).
本研究旨在确定各种血液系统恶性肿瘤中细胞遗传学多克隆性的频率，并调查形态学亚组、年龄、性别或既往遗传毒性暴露是否会影响其发生率。在2243例接受细胞遗传学检查的血液系统恶性肿瘤中，发现10例急性髓系白血病（AML）、5例骨髓增生异常综合征（MDS）、2例急性淋巴细胞白血病（ALL）、1例急性未分化白血病（AUL）、1例非典型费城染色体阴性（Ph-）慢性髓系白血病（CML）、1例慢性骨髓增殖性疾病（CMD）和1例慢性淋巴细胞增殖性疾病（CLD）存在核型不相关克隆，分别占AML的2.6%、MDS的1.6%、ALL的0.8%、AUL的13%、Ph- CML的9.1%、CMD的1.5%和CLD伴染色体异常的2.8%。与细胞遗传学特征相反，在可进行调查的两名信息丰富的女性患者中，X染色体失活模式为单克隆性。在对17733例已发表的核型异常病例进行调查时，发现存在显著的频率差异（P < 0.001）：6526例AML中的发生率为1.7%，2391例MDS中的发生率为3.4%，1920例Ph+ CML中的发生率为0.4%，856例CMD中的发生率为2.9%，4226例ALL中的发生率为0.9%，1814例CLD中的发生率为5.8%。细胞遗传学多克隆性的发生率在MDS、CMD或ALL亚组之间、男性和女性之间、儿童（<16岁）和成人之间、B细胞ALL和T细胞ALL之间无显著差异，而在AML的FAB类型之间（P < 0.05）、不同CLD实体之间（P < 0.001）以及B细胞CLD和T细胞CLD之间（P < 0.001）有所不同。此外，治疗相关AML和MDS的发生率高于初发性AML和MDS（分别为P < 0.001和P < 0.01）。
