Pryor Jennifer G, Brown-Kipphut Brigette A, Iqbal Anwar, Scott Glynis A
Department of Pathology and Laboratory Medicine, University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.
Am J Dermatopathol. 2011 Dec;33(8):780-5. doi: 10.1097/DAD.0b013e31820dfcbf.
Desmoplastic melanoma (DM) and malignant peripheral nerve sheath tumor (MPNST) can appear morphologically and immunophenotypically similar. We attempted to determine whether microarray comparative genomic hybridization could detect copy number differences between them to aid in the diagnosis. S-100 immunohistochemistry was performed on 5 cases of DM and 9 cases of MPNST using formalin-fixed paraffin-embedded specimens. Genomic DNA was extracted from microdissected cells. Whole genome amplification was performed on 5 of 5 DMs and 6 of 9 MPNST cases. A multiplex polymerase chain reaction assay was used to determine the quality of the DNA samples, which were run on the Spectral Chip 2600 bacterial artificial chromosome array platform. DM showed gains involving chromosomes 1p, 2p, 9q, 13q, 14q, and 20q and losses involving chromosomes 5p, 11p, 12q, 15q, and 18q. Several cancer-associated genes were involved, including gain of BCL2L1, ARTN, AMPK, NRAS, and CCNA1 and loss of IGF2, CDKN1C, PAX6, WT1, TRAF6, MAPK8IP1, and IMP3. MPNST had gains involving chromosomes 1p, 2q, and 19p and loss of chromosome 21q. Gains of MUM1, APC2, MAP2K2, JMJD2B, SP110, PTMA, GPI, and CDKN2D were detected. DM and MPNST have chromosomal alterations detected by array comparative genomic hybridization that might be useful in distinguishing these 2 tumors, although further studies with a larger sample size will be needed to test this.
促纤维增生性黑色素瘤（DM）和恶性外周神经鞘膜瘤（MPNST）在形态学和免疫表型上可能相似。我们试图确定微阵列比较基因组杂交是否能检测出它们之间的拷贝数差异以辅助诊断。使用福尔马林固定石蜡包埋标本对5例DM和9例MPNST进行S-100免疫组织化学检测。从显微切割的细胞中提取基因组DNA。对5例DM中的5例和9例MPNST中的6例进行全基因组扩增。采用多重聚合酶链反应分析法测定DNA样本质量，这些样本在Spectral Chip 2600细菌人工染色体阵列平台上进行检测。DM显示1p、2p、9q、13q、14q和20q染色体获得，以及5p、11p、12q、15q和18q染色体缺失。涉及多个癌症相关基因，包括BCL2L1、ARTN、AMPK、NRAS和CCNA1基因获得，以及IGF2、CDKN1C、PAX6、WT1、TRAF6、MAPK8IP1和IMP3基因缺失。MPNST显示1p、2q和19p染色体获得，以及21q染色体缺失。检测到MUM1、APC2、MAP2K2、JMJD2B、SP110、PTMA、GPI和CDKN2D基因获得。通过阵列比较基因组杂交检测到DM和MPNST存在染色体改变，这可能有助于区分这两种肿瘤，不过还需要更大样本量的进一步研究来验证这一点。
