Heerema Nyla A, Sather Harland N, Sensel Martha G, La Mei K L, Hutchinson Raymond J, Nachman James B, Reaman Gregory H, Lange Beverly J, Steinherz Peter G, Bostrom Bruce C, Gaynon Paul S, Uckun Fatih M
The Ohio State University Medical Center, Department of Pathology, Columbus, Ohio, USA.
Cancer. 2002 Feb 15;94(4):1102-10.
Recurring breakpoints in chromosome bands 15q13-15 occur infrequently in leukemia. To the authors' knowledge, the clinical significance of these breakpoints in childhood acute lymphoblastic leukemia (ALL) has not been previously investigated.
Centrally reviewed karyotypes of children with newly diagnosed ALL enrolled on Children's Cancer Group protocols from 1988 to 1995 formed the basis of the current report. Statistical analyses used chi-square tests for homogeneity of proportions, and outcome was analyzed using life table methods and associated statistics.
Of 1946 cases with centrally reviewed and accepted cytogenetic analyses, 23 cases (1%) had breakpoints in chromosome bands 15q13-15. Most patients with 15q13-15 breakpoints had standard risk ALL, although breakpoints in 15q13-15 occurred more frequently in infants than in older children. The majority of these patients (16 patients; 70%) had balanced 15q13-15 rearrangements. Additional chromosomal abnormalities not involving 15q included abnormal 12p, abnormal 9p, Philadelphia chromosome, deletion 6q, and an 11q23 breakpoint. Thirteen (57%) 15q13-15 breakpoints occurred in pseudodiploid karyotypes; five (22%) were in hyperdiploid karyotypes with 47-50 chromosomes; two (9%) were in hyperdiploid karyotypes with > 50 chromosomes; and three (13%) were in hypodiploid karyotypes. Of the 23 patients with 15q13-15 breakpoints, 21 were survivors, 18 survived event-free for 2.2-9.3 years, and 3 were alive 1 to 3 years after a relapse at time of writing.
The current study suggests that genes at 15q13-15 may be involved in the leukemogenesis of some cases of childhood ALL, but that with current intensive therapy such aberrations do not confer increased risk of treatment failure.
染色体带15q13 - 15的复发性断点在白血病中很少见。据作者所知，这些断点在儿童急性淋巴细胞白血病（ALL）中的临床意义此前尚未得到研究。
对1988年至1995年参加儿童癌症组方案的新诊断ALL患儿的核型进行集中审查，构成了本报告的基础。统计分析采用卡方检验来检验比例的同质性，并使用生命表方法及相关统计分析结果。
在1946例经集中审查并接受细胞遗传学分析的病例中，23例（1%）在染色体带15q13 - 15处有断点。大多数有15q13 - 15断点的患者患有标准风险ALL，尽管15q13 - 15断点在婴儿中比在大龄儿童中更常见。这些患者中的大多数（16例；70%）有平衡的15q13 - 15重排。不涉及15q的其他染色体异常包括12p异常、9p异常、费城染色体、6q缺失和一个位于染色体11q23的断点。15q13 - 15断点中的13个（57%）出现在假二倍体核型中；5个（22%）出现在有47 - 50条染色体的超二倍体核型中；2个（9%）出现在有超过50条染色体的超二倍体核型中；3个（13%）出现在亚二倍体核型中。在23例有15q13 - 15断点的患者中，可以追踪到21例存活，其中18例无事件存活时间为2.2至9.3年，3例在撰写本文时复发后1至3年仍存活。
目前的研究表明，15q13 - 15处的基因可能参与了某些儿童ALL病例的白血病发生过程，但在当前的强化治疗下，这种畸变不会增加治疗失败的风险。
