Casalone R, Mazzola D, Meroni E, Righi R, Minelli E, Granata P, Panattoni A, Viotto A M, Modesti M, Pilato G
Laboratorio di Citogenetica, Ospedale di Circolo, Varese, Italy.
Cancer Genet Cytogenet. 1997 Nov;99(1):73-6. doi: 10.1016/s0165-4608(96)00430-x.
The results of cytogenetic and FISH analysis performed in 26 cases of Dupuytren contracture are reported. Clonal or sporadic chromosome changes were found in 18 cases (69%). Clonal changes consisted of: +2, +16, -10, -Y, add(1)(p23), del(2)(q21), t(3;16)(p21;q24), add (3)(p24), del(18)(q21), t(Y;14)(p12;q24), +mar. The results differ from those obtained in normal palmar fascia used as control, in which -Y and +Y were the only clonal changes found in 2 of 11 analyzed cases (18%). No clonal trisomy 8 was found. FISH analysis performed in 11 cases (centromeric probe specific for chromosome 8) failed to show the presence of a cell population with +8. Clonal and sporadic structural changes were different from case to case and no clustering breakpoint was observed. The significance of the chromosome instability leading to clonal and sporadic chromosome changes not specific to Dupuytren contracture are discussed.
报告了对26例掌腱膜挛缩症患者进行细胞遗传学和荧光原位杂交（FISH）分析的结果。18例（69%）发现了克隆性或散发性染色体改变。克隆性改变包括：+2、+16、-10、-Y、add(1)(p23)、del(2)(q21)、t(3;16)(p21;q24)、add(3)(p24)、del(18)(q21)、t(Y;14)(p12;q24)、+mar。这些结果与作为对照的正常掌腱膜所获得的结果不同，在11例分析病例中的2例（18%）正常掌腱膜中，仅发现-Y和+Y是克隆性改变。未发现克隆性8号染色体三体。对11例病例进行FISH分析（使用针对8号染色体的着丝粒探针）未显示存在+8的细胞群体。克隆性和散发性结构改变因病例而异，未观察到聚集性断点。讨论了导致克隆性和散发性染色体改变的染色体不稳定性的意义，这些改变并非掌腱膜挛缩症所特有。
