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Gain of chromosome 8q is a frequent finding in pleuropulmonary blastoma

机译:染色体8q的获得是胸膜肺母细胞瘤的常见发现

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Pleuropulmonary blastomas are rare malignant intrathoracic tumors of early childhood. They appear as a pulmonary- and/or pleural-based mass and their pathogenesis and relationship to other pediatric solid tumors is not well understood. In this study, paraffin-embedded material of five cases of pleuropulmonary blastoma was analyzed for genetic alterations by comparative genomic hybridization and five genetic loci by fluorescence in situ hybridization. Comparative genomic hybridization identified aberrations in all pleuropulmonary blastomas, including four amplifications in three tumors at chromosomes 5q33–34, 11q22.2–ter, 15q25–ter, and 19q11–13.2. The most frequent DNA gains involved 8q11–22.2 (four cases) and 20q (two cases), whereas the most common losses included 9p21–24 (two cases) and 11p14 (three cases). Chromosome 8 gains were confirmed by fluorescent in situ hybridization, resulting in the detection of up to five copies of chromosome 8 centromeres per nucleus. In the two surviving patients, chromosome 8 gains were the only genetic abnormality, suggesting that this might be an early event in pleuropulmonary blastoma carcinogenesis. The identification of new genetic alterations as well as the confirmation of previously reported ones (especially 8q gains) in pleuropulmonary blastoma should help to improve our understanding of both the molecular mechanisms underlying the tumorigenesis of pleuropulmonary blastoma and the relationship of pleuropulmonary blastoma with other pediatric tumors.
机译:胸膜肺母细胞瘤是儿童早期罕见的恶性胸腔内肿瘤。它们表现为基于肺和/或胸膜的肿块,其发病机理以及与其他小儿实体瘤的关系尚不十分清楚。在这项研究中,通过比较基因组杂交分析了5例胸膜肺母细胞瘤的石蜡包埋材料的遗传改变,并通过荧光原位杂交分析了5个遗传基因座。比较基因组杂交鉴定了所有胸膜肺母细胞瘤中的畸变,包括在5q33–34、11q22.2–ter,15q25–ter和19q11–13.2染色体上的三个肿瘤中的四个扩增。 DNA的最频繁获得涉及8q11–22.2(四例)和20q(两例),而最常见的丢失包括9p21–24(两例)和11p14(三例)。通过荧光原位杂交确认了8号染色体的获得,从而每个核酸最多检测到5个拷贝的8号染色体着丝粒。在两名幸存的患者中,唯一的遗传异常是染色体8的增加,这表明这可能是胸膜肺母细胞瘤致癌作用的早期事件。鉴别胸膜肺母细胞瘤的新遗传学改变以及先前报道的遗传改变(尤其是8q增高)应有助于增进我们对胸膜肺母细胞瘤肿瘤发生的分子机制以及胸膜肺母细胞瘤与其他儿童肿瘤的关系的了解。

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