Fletcher C D, Akerman M, Dal Cin P, de Wever I, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Sciot R, Tallini G, van den Berghe H, van de Ven W, Vanni R, Willen H
St. Thomas's Hospital, London, United Kingdom.
Am J Pathol. 1996 Feb;148(2):623-30.
Soft tissue tumors commonly show cytogenetic abnormalities, some of which are tumor specific. Lipomatous tumors represent the largest category of soft tissue neoplasms, and numerous karyotypic aberrations have been identified. However, clear-cut correlation between morphology and karyotype has not been undertaken on a systematic basis in a double-blind setting. The morphological features and histological diagnosis of 178 lipomatous neoplasms were reviewed independently without knowledge of the clinical data. The consensus diagnoses were then correlated with the clinical findings and compared with the tumors' karyotypes, using G-banded preparations from short-term cultures. The data were collated by a multicenter collaborative group of pathologists, geneticists, and surgeons. Clonal chromosomal abnormalities were identified in 149 cases studied (84%) and, to a large extent, the karyotype correlated with the morphological diagnosis. Specifically, 26 (96%) of 27 myxoid liposarcomas and its poorly differentiated variants showed a t(12;16); 29 (78%) of 37 atypical lipomatous tumors (including 5 dedifferentiated cases) showed ring chromosomes; 74 (80%) of 93 subcutaneous and intramuscular lipomas had karyotypic aberrations affecting mainly 12q, 6p, and 13q; 7 of 8 spindle cell and pleomorphic lipomas had aberrations of 16q; 3 lipoblastomas showed 8q rearrangements; and 2 hibernomas showed 11q abnormalities. We conclude that cytogenetic abnormalities are common in lipomatous tumors, correlate reliably with morphological sub-type in many cases, and can be of diagnostic value in histologically borderline or difficult cases.
软组织肿瘤通常表现出细胞遗传学异常,其中一些是肿瘤特异性的。脂肪瘤性肿瘤是软组织肿瘤中最大的一类,并且已经鉴定出许多核型畸变。然而,尚未在双盲环境下系统地进行形态学与核型之间的明确关联研究。在不了解临床数据的情况下,独立回顾了178例脂肪瘤性肿瘤的形态学特征和组织学诊断。然后将共识诊断与临床发现相关联,并与肿瘤的核型进行比较,使用短期培养的G带制备物。数据由病理学家、遗传学家和外科医生组成的多中心协作组进行整理。在149例研究病例(84%)中鉴定出克隆性染色体异常,并且在很大程度上,核型与形态学诊断相关。具体而言,27例黏液样脂肪肉瘤及其低分化变体中的26例(96%)显示t(12;16);37例非典型脂肪瘤(包括5例去分化病例)中的29例(78%)显示环形染色体;93例皮下和肌内脂肪瘤中的74例(80%)具有主要影响12q、6p和13q的核型畸变;8例梭形细胞和多形性脂肪瘤中的7例具有16q畸变;3例脂肪母细胞瘤显示8q重排;2例冬眠瘤显示11q异常。我们得出结论,细胞遗传学异常在脂肪瘤性肿瘤中很常见,在许多情况下与形态学亚型可靠相关,并且在组织学上临界或困难的病例中可能具有诊断价值。