Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7):: a study of the Groupe Francais de Cytogenetique Hematologique (GFCH)

Cytogenetic profile of childhood and adult megakaryoblastic leukemia (M7):: a study of the Groupe Francais de Cytogenetique Hematologique (GFCH)
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DOI:
10.1182/blood-2001-12-0241
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发表时间:
2002-07-15
期刊:
影响因子:
20.3
通讯作者:
Berger, R
Berger, R
中科院分区:
医学1区
文献类型:
--
作者:
Dastugue, N;Lafage-Pochitaloff, M;Berger, R

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为了绘制儿童和成人急性巨核母细胞白血病(W)的细胞遗传学图谱,法国细胞遗传学血液学小组收集了53例M7(30例儿童和23例成人)。与其他急性髓系白血病相比,M7的特点是异常发生率更高,核型复杂性更高,儿童和成人的异常分布不同。鉴定出9个细胞遗传学组:核型正常(1组)、唐氏综合征患者(2组)、仅数值异常(3组)、t(1;22)(p13;q13)或tt - mal转录本(4组)、t(9;22)(q34;q11)(5组)、3q21q26(6组)、-5/del(5q)或-7/del(7q)或两者兼有(7组)、1(12)(p10)(8组)和其他结构改变(9组)。1、2、3、4组均为儿童(3组中除1名成人外),5、6、7、8组主要为成人。描述了这些组的主要临床和血液学特征。没有发现新的复发异常,但所有断点的映射使我们能够指定几个可能的重排热点:17q22-23, 11q14-21, 21q21-22和16q21-22-23。尽管90.5%的病例既往无血液学疾病或化疗或放疗记录,但形态学和细胞遗传学结果表明,M7可能是继发性白血病,比既往病史更常见,尤其是在成人中。形态学和细胞遗传学数据的同时分析也使我们假设,与儿童M7相比,成人M7的初始前体可能更不成熟。(C) 2002年由美国血液病学会出版。
To draw the cytogenetic profile of childhood and adult acute megakaryoblastic leukemia (W), the Groupe Francais de Cytogenetique Hematologique collected 53 cases of M7 (30 children and 23 adults). Compared to other acute myeloid leukemias, M7 is characterized by a higher incidence of abnormalities, a higher complexity of karyotypes, and a different distribution of abnormalities among children and adults. Nine cytogenetic groups were identified: normal karyotypes (group 1), patients with Down syndrome (group 2), numerical abnormalities only (group 3), t(1;22)(p13;q13) or OTT-MAL transcript (group 4), t(9;22)(q34;q11) (group 5), 3q21q26 (group 6), -5/del(5q) or -7/del(7q) or both (group 7), 1(12)(p10) (group 8), and other structural changes (group 9). Groups 1, 2, 3, and 4 were exclusively composed of children (except one adult in group 3), whereas groups 5, 6, 7, and 8 were mainly made up of adults. The main clinical and hematologic features of these groups were described. No new recurrent abnormality was identified, but mapping of all breakpoints allowed us to specify several possible hot spots of rearrangement: 17q22-23, 11q14-21, 21q21-22, and 16q21-22-23. Although 90.5% of cases had no documented antecedent hematologic disorder or exposure to chemotherapy or radiotherapy, the morphologic and the cytogenetic findings Indicated that M7 might be a secondary leukemia more often than suggested by preceding history, particularly among adults. The concurrent analyses of morphologic and cytogenetic data also led us to assume that the initial precursor Involved might be more Immature In adult than In childhood M7. (C) 2002 by The American Society of Hematology.