Willén H, Akerman M, Dal Cin P, De Wever I, Fletcher C D, Mandahl N, Mertens F, Mitelman F, Rosai J, Rydholm A, Sciot R, Tallini G, Van den Berghe H, Vanni R
Department of Pathology, Lund University Hospital, Sweden.
Cancer Genet Cytogenet. 1998 Apr 1;102(1):46-9. doi: 10.1016/s0165-4608(97)00292-6.
Soft tissue lipomatous tumors are morphologically heterogeneous. Various morphologic features are associated with specific chromosomal patterns and clinical features such as age, sex, and tumor site, location, and size. Simple lipomas are known to be karyotypically heterogeneous, but this has not been correlated with clinicopathological features. In 165 cases of solitary soft tissue lipoma, short-term cultures were analyzed cytogenetically. The karyotypes were divided into the following groups: normal karyotype; 12q13-15 aberrations; 6p rearrangements; 13q rearrangements, 8q11-13 aberrations; ring or giant marker chromosomes or both; other aberrations. The tumors were reexamined morphologically without knowledge of the karyotypic or clinical data. An abnormal chromosomal pattern was observed in 129 of 165 cases (78%): in 75 of 90 (83%) lipomas in the extremities and in 43 of 63 (68%) trunk wall lipomas. Chromosomal aberrations were present in 69 of 90 (77%) subcutaneous tumors and in 59 of 64 (80%) deep tumors. A normal karyotype was twice as frequent in tumors in patients under 30 years of age than in those from older individuals (6 of 16 vs. 30 of 149, 40% resp. 20%). Apart from the finding that normal karyotypes were more common in patients younger than 30 years, there was no significant association between cytogenetic pattern and patient sex or age or tumor localization, size, or depth. The pathogenetic basis and clinicopathologic relevance (if any) of the cytogenetic subtypes among benign lipomas remain unexplained.
软组织脂肪瘤在形态学上具有异质性。各种形态学特征与特定的染色体模式以及临床特征相关,如年龄、性别、肿瘤部位、位置和大小。已知单纯性脂肪瘤在核型上具有异质性,但这尚未与临床病理特征相关联。对165例孤立性软组织脂肪瘤进行了短期培养,并进行了细胞遗传学分析。核型分为以下几组:正常核型;12q13 - 15畸变;6p重排;13q重排,8q11 - 13畸变;环状或巨大标记染色体或两者皆有;其他畸变。在不了解核型或临床数据的情况下,对肿瘤进行了形态学复查。165例中有129例(78%)观察到异常染色体模式:90例四肢脂肪瘤中有75例(83%),63例躯干壁脂肪瘤中有43例(68%)。69例(77%)皮下肿瘤和59例(80%)深部肿瘤存在染色体畸变。30岁以下患者的肿瘤中正常核型出现的频率是年龄较大患者的两倍(16例中有6例,占40%;149例中有30例,占20%)。除了30岁以下患者中正常核型更常见这一发现外,细胞遗传学模式与患者性别、年龄或肿瘤定位、大小或深度之间没有显著关联。良性脂肪瘤中细胞遗传学亚型的致病基础和临床病理相关性(如果有的话)仍未得到解释。