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成人非地方性伯基特淋巴瘤和白血病中的染色体异常:22例新报告及对文献中148例病例的综述。

Chromosomal abnormalities in adult non-endemic Burkitt's lymphoma and leukemia: 22 new reports and a review of 148 cases from the literature.

作者信息

Kornblau S M, Goodacre A, Cabanillas F

机构信息

Department of Medical Oncology, University of Texas M.D. Anderson Cancer Center, Houston 77030.

出版信息

Hematol Oncol. 1991 Mar-Apr;9(2):63-78. doi: 10.1002/hon.2900090202.

Abstract

Tumour cell karyotypes from patients with Burkitt lymphoma (BL) or Burkitt's type leukemia (ALL3) were studied for correlation with survival, bone marrow and cerebral spinal fluid involvement (CSF), human immunodeficiency virus (HIV) serology, and for recurrent cytogenetic abnormalities. The records of 22 patients with BL from our institution and of 148 cases of BL and ALL3 reported in the literature with karyotypes were evaluated for clinical and cytological features. Overall survival was only 28 per cent and 88 per cent of deaths occurred within the first nine months after diagnosis. Those who survived at least 18 months were unlikely to relapse. Age and gender did not significantly affect survival. Patients presenting with advanced Ann Arbor stage, bone marrow or CSF involvement had lower survival rates. The association of translocations involving chromosome band 8q24 with this disease is confirmed. Sixty-two per cent of karyotypes had t(8;14)(q24;q32) translocations; the recognized variant translocations t(8;22)(q24;q11) and t(2;8)(p12;q24) affected 12 per cent and 9 per cent respectively. Seventeen per cent had abnormal karyotypes but no classic translocation. Patients with variant translocations had the poorest survival rates, and those with the classic t(8;14)(q24;q32) did the best. Despite a small sample size, the variant translocation t(8;22)(q24;q11) appeared to occur at an increased frequency in the patients with AIDS. In the entire group, recurrent involvement of chromosome regions 1q2, 6q11-14 and 17p1 suggests that alteration of genes at these loci, B Cell Growth Factor (BCGF) at 1q2 and p53 on 17p, may contribute to the development and progression of this tumour. Similarly, the frequent trisomies of chromosomes 7, 8, 12 and 18 may indicate an effect on tumour cell growth due to increased gene dosage. Trisomy 12 was found in eight tumours, five from patients with AIDS, suggesting that chromosome 12 has a site or gene whose allelic dosage is selected for in AIDS related lymphoma cells. Cytogenetic studies of adult Burkitt lymphoma and leukemia suggest several likely loci for gene alterations that in conjunction with myc translocations can lead to tumorigenesis.

摘要

对伯基特淋巴瘤(BL)或伯基特型白血病(ALL3)患者的肿瘤细胞核型进行研究,以探讨其与生存、骨髓和脑脊液受累情况(CSF)、人类免疫缺陷病毒(HIV)血清学的相关性,以及复发性细胞遗传学异常情况。对本机构22例BL患者以及文献报道的148例有核型的BL和ALL3病例的记录进行临床和细胞学特征评估。总体生存率仅为28%,88%的死亡发生在诊断后的前九个月内。那些存活至少18个月的患者不太可能复发。年龄和性别对生存率没有显著影响。呈现晚期Ann Arbor分期、骨髓或脑脊液受累的患者生存率较低。涉及染色体8q24带的易位与该疾病的关联得到证实。62%的核型有t(8;14)(q24;q32)易位;公认的变异易位t(8;22)(q24;q11)和t(2;8)(p12;q24)分别影响12%和9%。17%的核型异常但无经典易位。具有变异易位的患者生存率最差,而具有经典t(8;14)(q24;q32)的患者情况最好。尽管样本量较小,但变异易位t(8;22)(q24;q11)在艾滋病患者中出现的频率似乎有所增加。在整个组中,染色体区域1q2、6q11 - 14和17p1的反复受累表明这些位点的基因改变,1q2处的B细胞生长因子(BCGF)和17p上的p53,可能有助于该肿瘤的发生和发展。同样,染色体7、8、12和18的频繁三体性可能表明由于基因剂量增加对肿瘤细胞生长产生影响。在8个肿瘤中发现了三体12,其中5个来自艾滋病患者,这表明染色体12有一个位点或基因,其等位基因剂量在艾滋病相关淋巴瘤细胞中被选择。成人伯基特淋巴瘤和白血病的细胞遗传学研究表明,与myc易位相关的几个可能的基因改变位点可导致肿瘤发生。

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