Karlsson I, Mandahl N, Heim S, Rydholm A, Willén H, Mitelman F
Department of Clinical Genetics, Lund University Hospital, Sweden.
Cancer Genet Cytogenet. 1988 Sep;34(2):241-5. doi: 10.1016/0165-4608(88)90266-x.
Cytogenetic studies of an extraabdominal desmoid tumor revealed karyotypic abnormalities in 20 of 50 analyzed metaphases, with no less than 13 clonal marker chromosomes, 11 of which could be at least partially identified. The hypodiploid stemline karyotype was interpreted as: 43-45,XX,-1,-1, + der(1)(?::1p36----1q21::?) + der(1)t(1;?)(p11;?), + der(1) (1pter----1p31::1p11----1cen----1q32::?),- 3,del(3)(p12), + der(3)tdel(3)(p12);?, + der(6) t(6;?)(q15;?),-8,-9,-9,-10, + der(10)t(10;?)(p13;?),-12, + der(12)(?::12q14----12q23::?), -13, -13,-15,-19,dic(21;22)(p13;q13),-21, + der(21)t(21;?)(p13;?),-22, + der(22)t(22;?)(q13;?), + 1-3mar/46,XX. This finding of clonal chromosome rearrangements strongly suggests that extraabdominal desmoid tumor is a neoplastic disease.
对一例腹外硬纤维瘤的细胞遗传学研究显示，在分析的50个中期相中，有20个存在核型异常，至少有13条克隆性标记染色体，其中11条至少可部分识别。亚二倍体主干核型被解释为：43 - 45,XX,-1,-1,+ der(1)(?::1p36----1q21::?) + der(1)t(1;?)(p11;?), + der(1) (1pter----1p31::1p11----1cen----1q32::?),- 3,del(3)(p12), + der(3)tdel(3)(p12);?, + der(6) t(6;?)(q15;?),-8,-9,-9,-10, + der(10)t(10;?)(p13;?),-12, + der(12)(?::12q14----12q23::?), -13, -13,-15,-19,dic(21;22)(p13;q13),-21, + der(21)t(21;?)(p13;?),-22, + der(22)t(22;?)(q13;?), + 1 - 3mar/46,XX。克隆性染色体重排的这一发现强烈提示腹外硬纤维瘤是一种肿瘤性疾病。
