Durgin Joseph S, Whittington Carli P, Joseph Mallory, Harms Paul W, Andea Aleodor A, Pedersen Elisabeth A, Smith Emily H, Harms Kelly L
Department of Dermatology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.
Department of Pathology, Michigan Medicine, University of Michigan, Ann Arbor, Michigan, USA.
J Cutan Pathol. 2024 Jul;51(7):490-495. doi: 10.1111/cup.14612. Epub 2024 Mar 28.
Dermatofibrosarcoma protuberans (DFSP) is a cutaneous sarcoma with a high propensity for local invasion and recurrence. Although it is a rare event, the occurrence of multiple tumors in a single patient raises a diagnostic dilemma, as metastatic disease should be differentiated from multiple primary malignant events. In more than 90% of DFSP, a pathogenic t(17;22) translocation leads to the expression of COL1A1::PDGFB fusion transcripts. Karyotype analysis, fluorescence in situ hybridization, and RT-PCR can be useful ancillary studies in detecting this characteristic rearrangement, and sequencing of the fusion transcript can be used to support a clonal origin in metastatic and multifocal disease. However, previous reports have demonstrated variable sensitivity of these assays, in part due to the high sequence variability of the COL1A1::PDGFB fusion. Here, we report a patient who developed two distinct DFSP tumors over the course of 7 years. Chromosomal microarray analysis identified distinctive genomic alterations in the two tumors, supporting the occurrence of multiple primary malignant events.
隆突性皮肤纤维肉瘤（DFSP）是一种具有高度局部侵袭和复发倾向的皮肤肉瘤。虽然单个患者出现多个肿瘤是罕见事件，但这会引发诊断难题，因为需要将转移性疾病与多个原发性恶性事件区分开来。在超过90%的DFSP中，致病性t(17;22)易位导致COL1A1::PDGFB融合转录本的表达。核型分析、荧光原位杂交和逆转录聚合酶链反应在检测这种特征性重排方面可能是有用的辅助研究，融合转录本测序可用于支持转移性和多灶性疾病的克隆起源。然而，先前的报告表明这些检测方法的敏感性各不相同，部分原因是COL1A1::PDGFB融合的序列变异性很高。在此，我们报告一名患者在7年期间发生了两种不同的DFSP肿瘤。染色体微阵列分析在这两种肿瘤中发现了独特的基因组改变，支持多个原发性恶性事件的发生。
