Hyperdiploidy defines a distinct cytogenetic entity of meningiomas

Hyperdiploidy defines a distinct cytogenetic entity of meningiomas
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DOI:
10.1007/s11060-006-9318-7
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发表时间:
2007-06-01
影响因子:
3.9
通讯作者:
Henn, Wolfram
Henn, Wolfram
中科院分区:
医学2区
文献类型:
--
作者:
Ketter, Ralf;Kim, Yoo-Jin;Henn, Wolfram

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背景脑膜瘤中最常见的染色体畸变是22号单体。脑膜瘤的进展和复发通常与额外的染色体丢失有关。然而,很少有脑膜瘤具有超过50条染色体的超二倍体核型;本研究的目的是探讨脑膜瘤的细胞遗传学和组织病理学模式以及超二倍体的临床意义。方法在一系列的677例连续脑膜瘤中,我们确定了一个亚组,包括16例显示出明显均匀的超二倍体模式,大多数没有结构染色体重排,结果16例脑膜瘤染色体数目在50 ~ 56条之间,其中12三体14例,20三体13例,5三体12例,17三体10例。组织形态学上,超二倍体脑膜瘤具有异质性表型。然而,与具有典型核型的脑膜瘤相比,它们与较高的组织学分级和碱性磷酸酶表达降低相关。在两名患者中,复发的记录和3例患者死于疾病的观察期间,表明预后差的超二倍体比细胞遗传学典型的脑膜瘤。结论我们得出结论,超二倍体构成一个小的,但临床相关的实体的生物侵袭性脑膜瘤,这是细胞遗传学区分从大多数常见类型的脑膜瘤。
Background The most common chromosomal aberration found in meningiomas is monosomy 22. Progression and recurrence of meningiomas are usually associated with additional chromosome losses. Rarely, however, meningiomas have strongly hyperdiploid karyotypes with over 50 chromosomes; the objective of this study was to explore the cytogenetic and histopathologic patterns as well as the clinical significance of hyperdiploidy in meningiomas.Methods Within a series of 677 consecutive meningiomas, we identified a subgroup comprising 16 cases that display a strikingly uniform pattern of hyperdiploidy mostly without structural chromosome rearrangements, as shown by banding techniques and, in the single structurally aberrant case, spectral karyotyping.Results These meningiomas each have between 50 and 56 chromosomes, with trisomy 12 (14/16 cases), trisomy 20 (13/16 cases), trisomy 5 (12/16 cases), and trisomy 17 (10/16 cases). Histomorphologically, hyperdiploid meningiomas feature a heterogeneous phenotype. However, they are associated with a higher histological grade, and decreased expression of alkaline phosphatase as compared to meningiomas with typical karyotype. In two patients, recurrences were documented and three patients died of disease during the period of observation, indicating a worse prognosis of hyperdiploid than of cytogenetically typical meningiomas.Conclusion We conclude that hyperdiploidy constitutes a small but clinically relevant entity of biologically aggressive meningiomas, which are cytogenetically distinguishable from the majority of common-type meningiomas.