Heim S, Békàssy A N, Garwicz S, Heldrup J, Wiebe T, Kristoffersson U, Mandahl N, Mitelman F
Department of Clinical Genetics, University Hospital, Lund, Sweden.
Leukemia. 1987 Jan;1(1):16-23.
The karyotypic abnormalities and clinical data on three patients in whom acute leukemia was diagnosed within the first 6 months of life are presented. The four structural chromosomal rearrangements detected in the bone marrow from these patients, i.e., t(7;12)(q36;p13) and t(1;19)(q11;q11) in case 1, t(2;10;11;12)(q21q31;p13;q13;q24) in case 2, and t(11;19)(q23;p13) in case 3, have not previously been associated with congenital leukemia. Acquired chromosomal changes have until now been reported in only 31 leukemic infants in this age group. Of the total material, 18 patients had acute lymphoblastic leukemia and 16 had acute nonlymphocytic leukemia. The by far most frequently recorded cytogenetic aberration has been t(4q;11q), seen in 14 cases of lymphoblastic leukemia. Although t(4q;11q) has not been found in a single patient with acute nonlymphocytic leukemia, these leukemias have often had other rearrangements involving the same region of 11q. Hence, genetic material around 4q21 may be active in lymphocytic differentiation, whereas gene(s) in 11q23 may be important in the neoplastic process in a less cell-type specific manner and perhaps particularly vulnerable to neoplastic rearrangement in fetal life. The finding of four cases out of 34 with translocations between 11q23 and chromosome 19 indicates that this rearrangement might characterize a specific cytogenetic subgroup of leukemia in the very young.
本文报告了3例在出生后6个月内被诊断为急性白血病的患者的核型异常及临床资料。在这些患者的骨髓中检测到4种结构染色体重排，即病例1中的t(7;12)(q36;p13)和t(1;19)(q11;q11)，病例2中的t(2;10;11;12)(q21q31;p13;q13;q24)，以及病例3中的t(11;19)(q23;p13)，这些重排以前未与先天性白血病相关联。迄今为止，该年龄组仅有31例白血病婴儿报道过获得性染色体改变。在所有病例中，18例为急性淋巴细胞白血病，16例为急性非淋巴细胞白血病。迄今为止最常记录到的细胞遗传学异常是t(4q;11q)，在14例淋巴细胞白血病中可见。虽然在急性非淋巴细胞白血病患者中未发现1例t(4q;11q)，但这些白血病常伴有涉及11q同一区域的其他重排。因此，4q21周围的遗传物质可能在淋巴细胞分化中起作用，而11q23中的基因可能以较少细胞类型特异性的方式在肿瘤发生过程中起重要作用，并且在胎儿期可能特别容易发生肿瘤重排。在34例病例中有4例发现11q23与19号染色体之间发生易位，这一发现表明这种重排可能是极幼龄白血病特定细胞遗传学亚组的特征。
