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血液系统恶性肿瘤中1q三体的模式:单机构经验

Pattern of trisomy 1q in hematological malignancies: a single institution experience.

作者信息

Djordjević Vesna, Dencić-Fekete Marija, Jovanović Jelica, Drakulić Danijela, Stevanović Milena, Janković Gradimir, Gotić Mirjana

机构信息

Institute of Hematology, Clinical Center of Serbia, 2 Koste Todorovicaa, Belgrade, Serbia.

出版信息

Cancer Genet Cytogenet. 2008 Oct;186(1):12-8. doi: 10.1016/j.cancergencyto.2008.05.003.

Abstract

An extra copy of 1q usually originates from the translocated unbalanced derivative chromosome, isochromosome, or "jumping translocation." We report a pattern of partial trisomies and unbalanced whole-arm translocations of 1q in 10 patients: 5 with myelodysplastic syndrome, 3 with acute myeloid leukemia, and a single patient with acute lymphoblastic leukemia and myeloproliferative syndrome. The trisomy of 1q was registered as the sole karyotype aberration in one patient, while it was accompanied by a limited number of additional chromosomal changes in nine patients. These patients are a subset of a larger group of 92 adults carrying a wide variety of chromosome 1 anomalies within a complex cytogenetic context observed over a period between 1994 and 2006 in a panel of 3,786 hematologic patients at the Institute of Hematology in Belgrade. Conventional cytogenetics was supplemented by fluorescence in situ hybridization with a probe specific for the paracentric region of 1q. Whole-arm 1q translocations involved chromosomes Y, 7, 14, 15, 16, and 19. This study suggests that gain of 1q as the sole cytogenetic abnormality may be sufficiently mutagenic to favor leukemogenesis and hematopoietic tissue degeneration (trilineage myelodysplasia).

摘要

额外的1q拷贝通常源自易位的不平衡衍生染色体、等臂染色体或“跳跃易位”。我们报告了10例患者中1q部分三体和不平衡全臂易位的模式:5例患有骨髓增生异常综合征,3例患有急性髓系白血病,1例患有急性淋巴细胞白血病和骨髓增殖综合征。1q三体在1例患者中被记录为唯一的核型异常,而在9例患者中它伴有数量有限的其他染色体变化。这些患者是1994年至2006年期间在贝尔格莱德血液学研究所的3786例血液学患者中观察到的92例携带各种1号染色体异常的成年患者大群体中的一个子集。传统细胞遗传学通过使用针对1q近着丝粒区域的特异性探针进行荧光原位杂交得到补充。全臂1q易位涉及染色体Y、7、14、15、16和19。这项研究表明,作为唯一细胞遗传学异常的1q增加可能具有足够的致突变性,有利于白血病发生和造血组织变性(三系骨髓增生异常)。

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