Tallini Giovanni, Dorfman Howard, Brys Peter, Dal Cin Paola, De Wever Ivo, Fletcher Christopher D M, Jonson Kjell, Mandahl Nils, Mertens Fredrik, Mitelman Felix, Rosai Juan, Rydholm Anders, Samson Ignace, Sciot Raf, Van den Berghe Herman, Vanni Roberta, Willén Helena
Department of Pathology, Yale University School of Medicine, New Haven, USA.
J Pathol. 2002 Feb;196(2):194-203. doi: 10.1002/path.1023.
The evaluation of chondroid lesions requires full integration of clinical, radiographic, and pathological data; tumour typing is often a challenge for the diagnostic pathologist. Although a variety of chromosomal abnormalities have been documented in chondroid lesions, the potential usefulness of cytogenetic analysis remains unclear. This study has critically reviewed and analysed 117 karyotyped samples from 100 patients with cartilaginous and chordoid tumours. Cases were selected based on successful chromosomal analysis and adequacy of clinical, radiographic, and pathological information. To ensure objective evaluation, the cytogenetic results were correlated in a double-blind setting with consensus diagnoses independently determined on each case, after complete review of the histological, radiographic, and clinical findings. Karyotypic aberrations were identified in 41/92 cartilaginous tumours (5/11 osteochondromas, 2/3 chondromyxoid fibromas, 0/4 chondroblastomas, 11/29 chondromas, 0/3 chondroid tumours of undetermined malignant potential, 22/40 chondrosarcomas and 1/2 miscellaneous cartilaginous lesions) and 5/8 chordomas. Complex karyotypic changes were a feature of malignant tumours (chondrosarcoma and chordoma) and of chondrosarcoma among cartilaginous tumours, where they correlated with high tumour grade. Among primary well-differentiated cartilaginous lesions of bone, the finding of an abnormal karyotype was consistently associated with a grade 1 chondrosarcoma diagnosis. Among karyotypically abnormal cartilaginous tumours, loss of distal 8q was associated with osteochondroma, +5 with synovial chondroma/chondromatosis and parosteal or soft tissue chondroma, alterations of chromosome arm 6q with chondromyxoid fibroma, +7 with bone chondrosarcoma, and 17p1 alterations with grade 3 chondrosarcoma. Alterations involving 12q13 characterized synovial chondroma/chondromatosis in the chondroma group and myxoid chondrosarcoma of bone in the chondrosarcoma group. In conclusion, cytogenetic abnormalities in chondroid lesions are common and are not randomly distributed. They are associated with malignancy/tumour grade as well as with specific diagnoses in many cases, and can therefore be of potential value for tumour typing.
软骨样病变的评估需要全面整合临床、影像学和病理学数据；肿瘤分型对诊断病理学家来说往往是一项挑战。尽管在软骨样病变中已记录了多种染色体异常，但细胞遗传学分析的潜在用途仍不明确。本研究对100例软骨和脊索瘤患者的117份核型分析样本进行了严格审查和分析。病例选择基于成功的染色体分析以及临床、影像学和病理学信息的充分性。为确保客观评估，在全面审查组织学、影像学和临床发现后，将细胞遗传学结果在双盲环境下与对每个病例独立确定的共识诊断进行关联。在92例软骨肿瘤中有41例（11例骨软骨瘤中的5例、3例软骨黏液样纤维瘤中的2例、4例软骨母细胞瘤中的0例、29例软骨瘤中的11例、3例恶性潜能未明的软骨样肿瘤中的0例、40例软骨肉瘤中的22例以及2例其他软骨病变中的1例）和8例脊索瘤中发现了核型异常。复杂的核型变化是恶性肿瘤（软骨肉瘤和脊索瘤）以及软骨肿瘤中的软骨肉瘤的特征，它们与高肿瘤分级相关。在原发性骨分化良好的软骨病变中，核型异常的发现始终与1级软骨肉瘤诊断相关。在核型异常的软骨肿瘤中，8q远端缺失与骨软骨瘤相关，+5与滑膜软骨瘤/软骨瘤病以及骨膜或软组织软骨瘤相关，6q染色体臂改变与软骨黏液样纤维瘤相关，+7与骨软骨肉瘤相关，17p1改变与3级软骨肉瘤相关。涉及12q13的改变在软骨瘤组中特征性地表现为滑膜软骨瘤/软骨瘤病，在软骨肉瘤组中表现为骨黏液样软骨肉瘤。总之，软骨样病变中的细胞遗传学异常很常见且并非随机分布。它们与恶性肿瘤/肿瘤分级以及许多病例中的特定诊断相关，因此对肿瘤分型可能具有潜在价值。
