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分子黑色素瘤诊断进展:基因融合、基因组杂交及大规模平行短读长测序

Molecular Melanoma Diagnosis Update: Gene Fusion, Genomic Hybridization, and Massively Parallel Short-Read Sequencing.

作者信息

Lang Ursula E, Yeh Iwei, McCalmont Timothy H

机构信息

Department of Pathology, University of California, San Francisco, San Francisco, CA, USA; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.

Department of Pathology, University of California, San Francisco, San Francisco, CA, USA; Department of Dermatology, University of California, San Francisco, San Francisco, CA, USA.

出版信息

Clin Lab Med. 2017 Sep;37(3):473-484. doi: 10.1016/j.cll.2017.06.002.

DOI:10.1016/j.cll.2017.06.002
PMID:28802496
Abstract

Molecular evaluation of melanocytic tumors can be diagnostically useful to confirm malignancy or benignancy. Molecular tools are ancillary and supplemental to histopathologic evaluation and do not replace conventional microscopy. Immunohistochemistry, fluorescence in situ hybridization, array comparative genomic hybridization, and massively parallel short-read sequencing, often referred to as next-generation sequencing, each provide varied (and often incomplete) additional information, and careful planning is necessary if tissue is limited.

摘要

黑素细胞肿瘤的分子评估在诊断上有助于确认恶性或良性。分子工具是组织病理学评估的辅助和补充手段,不能替代传统显微镜检查。免疫组织化学、荧光原位杂交、阵列比较基因组杂交以及通常被称为下一代测序的大规模平行短读测序,各自提供了不同(且往往不完整)的额外信息,并且如果组织有限,则需要仔细规划。

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