Varachev Vyacheslav, Shekhtman Anastasia, Guskov Dmitrii, Rogozhin Dmitrii, Zasedatelev Alexander, Nasedkina Tatiana
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, 119991 Moscow, Russia.
N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of the Russian Federation, 125047 Moscow, Russia.
Diagnostics (Basel). 2024 Jan 16;14(2):200. doi: 10.3390/diagnostics14020200.
Intracranial chondroid tumors are a heterogeneous group of neoplasms characterized by the presence of a cartilage matrix. These tumors exhibit overlapping clinical and histological features. Mutations in genes serve as important diagnostic markers of tumor type, particularly chondrosarcoma. To improve the accuracy of diagnostics, we compared three methods: biochip assay, real-time PCR with DNA melting analysis using TaqMan probes and sequencing (qPCR-DMA-Sanger), and immunohistochemistry (IHC). Tumor samples from 96 patients were investigated. The mutations were detected in 34/64 (53%) chondrosarcomas; IHC detected 27/56 (48.2%) mutations, the qPCR-DMA-Sanger method 27/59 (46%) mutations, and the biochip assay revealed 29/60 (48.3%) mutations. The detection of mutations in chordoma (2/15) and osteosarcoma (2/7) suggested the need for a revised diagnosis. In benign tumors, mutations were present in chondroma (4/6), but absent in chondromyxoid fibroma (0/4). The most frequent mutations were R132C (60%), R132L, and R132G (13.5% each), R132H (8%), and R132S (5%). The concordance between the biochip assay and IHC was 90%, between IHC and PCR-DMA-Sanger 83%, and between biochip assay and qPCR-DMA-Sanger was 98%, respectively. No mutations were found. The use of independent diagnostic methods may improve the detection of -mutant specimens in chondroid tumors.
颅内软骨样肿瘤是一组异质性肿瘤，其特征是存在软骨基质。这些肿瘤表现出重叠的临床和组织学特征。某些基因的突变是肿瘤类型的重要诊断标志物，尤其是软骨肉瘤。为提高诊断准确性，我们比较了三种方法：生物芯片检测、使用TaqMan探针的DNA熔解分析实时PCR和测序（qPCR-DMA-Sanger）以及免疫组织化学（IHC）。对96例患者的肿瘤样本进行了研究。在64例软骨肉瘤中有34例（53%）检测到某些突变；免疫组织化学检测到56例中有27例（48.2%）突变，qPCR-DMA-Sanger方法检测到59例中有27例（46%）突变，生物芯片检测显示60例中有29例（48.3%）突变。脊索瘤（2/15）和骨肉瘤（2/7）中某些突变的检测提示需要修订诊断。在良性肿瘤中，软骨瘤中有某些突变（4/6），但软骨黏液样纤维瘤中未检测到（0/4）。最常见的某些突变是R132C（60%）、R132L和R132G（各13.5%）、R132H（8%）和R132S（5%）。生物芯片检测与免疫组织化学之间的一致性为90%，免疫组织化学与PCR-DMA-Sanger之间为83%，生物芯片检测与qPCR-DMA-Sanger之间为98%。未发现其他突变。使用独立的诊断方法可能会提高软骨样肿瘤中某些突变标本的检测率。
