Schell Andrew J, Xu Yuhui, Baetz Tara, Harrison Karen, Ropchan Glorianne, LeBrun David, Feilotter Harriet
Department of Pathology and Molecular Medicine, Queen's University, Kingston, Ontario, Canada.
Cardiovasc Pathol. 2009 Mar-Apr;18(2):92-9. doi: 10.1016/j.carpath.2008.01.002. Epub 2008 Mar 6.
The majority of cardiac atrial neoplasms represent benign myxomas. Rarely, malignant cardiac neoplasms are encountered and can include primary cardiac neoplasms, as well as secondary tumors involving the heart. As many cardiac neoplasms lack pathognomonic clinical features, histopathologic diagnosis is crucial for classification and appropriate treatment of these neoplasms. Molecular investigation is critical to begin to catalogue genomic changes that correlate with these malignancies.
A 60-year-old man presented with superior vena cava syndrome, and computed tomographic scan revealed an infiltrative mass of the right atrium that nearly filled the atrial chamber and partially occluded superior vena cava flow. Urgent surgical resection revealed a soft mass with the appearance of "fish flesh." Histologic, immunochistochemical, cytogenetic, and detailed molecular investigations were carried out.
Histologic examination revealed complete replacement of the atrial wall by diffuse sheets of pleomorphic lymphoid cells with occasional smaller plasmacytoid cells. The predominant lymphoid population was immunoreactive for CD45, CD20, CD79a, BCL-2, BCL-6, Ki-67, CD10, p53, and light chain restricted for IgM lambda. A diagnosis of primary cardiac diffuse large B-cell lymphoma with plasmacytoid differentiation was established and was supported by cytogenetic studies demonstrating the presence of a t(14;18)(q32;q21) translocation in addition to other chromosomal abnormalities. Fluorescence in situ hybridization revealed no evidence of a C-MYC translocation.
In this single case, comparative genomic hybridization analysis using both bacterial artificial chromosome and oligonucleotide arrays correlated well with cytogenetic findings and allows for the cataloguing of more subtle genomic events.
大多数心脏心房肿瘤为良性黏液瘤。恶性心脏肿瘤较为罕见，可包括原发性心脏肿瘤以及累及心脏的继发性肿瘤。由于许多心脏肿瘤缺乏特征性的临床症状，组织病理学诊断对于这些肿瘤的分类和恰当治疗至关重要。分子研究对于开始梳理与这些恶性肿瘤相关的基因组变化至关重要。
一名60岁男性因上腔静脉综合征就诊，计算机断层扫描显示右心房有一浸润性肿块，几乎充满心房腔并部分阻塞上腔静脉血流。紧急手术切除显示为一外观呈“鱼肉样”的软肿块。进行了组织学、免疫组织化学、细胞遗传学及详细的分子研究。
组织学检查显示心房壁被弥漫性多形性淋巴细胞片完全取代，偶尔可见较小的浆细胞样细胞。主要淋巴细胞群体对CD45、CD20、CD79a、BCL-2、BCL-6、Ki-67、CD10、p53呈免疫反应，且免疫球蛋白Mλ轻链受限。确诊为原发性心脏弥漫性大B细胞淋巴瘤伴浆细胞样分化，细胞遗传学研究支持该诊断，除其他染色体异常外，还显示存在t(14;18)(q32;q21)易位。荧光原位杂交未发现C-MYC易位的证据。
在这一病例中，使用细菌人工染色体和寡核苷酸阵列进行的比较基因组杂交分析与细胞遗传学结果相关性良好，并有助于梳理更细微的基因组事件。
