Atypical Hepatic Mesenchymal Hamartoma: Histologic Appearance, Immunophenotype, and Molecular Findings.

IF 1.3
Dina El Demellawy, James Yj Lee, Laura McDonell, David A Dyment, A S Knisely, Jean McGowan-Jordan, Bo Ngan, Milton Finegold, Raj P Kapur, Ahmed Nasr
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引用次数: 4

Abstract

Hepatic mesenchymal hamartoma is a rare benign neoplasm principally encountered in young children. Its origin is unknown. We report an unusual hepatic mesenchymal hamartoma in a 7-month-old girl, including histopathologic findings, immunophenotype, and karyotype. Chromosomal microarray analysis of tumoral tissue and circulating lymphocytes found 4 copies of a segment at 1q44 and fluorescence in situ hybridization indicated tandem triplication, ascribed to expansion of a paternal tandem duplication. This genetic abnormality may have played a role in pathogenesis.

非典型肝间充质错构瘤:组织学表现、免疫表型和分子表现。
摘要肝间充质错构瘤是一种罕见的良性肿瘤,主要发生于幼儿。它的起源未知。我们报告一个7个月大的女孩的不寻常的肝间充质错构瘤,包括组织病理结果,免疫表型和核型。肿瘤组织和循环淋巴细胞的染色体微阵列分析发现在1q44处有4个拷贝,荧光原位杂交显示串联三倍,归因于父系串联重复扩增。这种基因异常可能在发病机制中起作用。
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