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乳腺叶状肿瘤的核型变化。

Karyotypic changes in phyllodes tumors of the breast.

作者信息

Dietrich C U, Pandis N, Bardi G, Teixeira M R, Soukhikh T, Petersson C, Andersen J A, Heim S

机构信息

Department of Medical Genetics, Odense University, Denmark.

出版信息

Cancer Genet Cytogenet. 1994 Dec;78(2):200-6. doi: 10.1016/0165-4608(94)90090-6.

Abstract

Cytogenetic analysis of short-term cultures of five phyllodes tumors of the breast-classified as benign (one tumor), borderline malignant (two tumors removed from the same breast in 1991 and 1993), and malignant (two tumors)--revealed clonal changes with simple structural abnormalities in the benign tumor, the borderline malignant tumors, and one malignant tumor in which benign areas and areas of borderline malignancy were also present. In contrast, the malignant tumor without admixed borderline malignant or benign areas had a complex karyotype. The karyotype of the benign phyllodes tumor was 46,XX,del(12)(p11p12)/46,XX,t(8;18)(p11;p11)/46,XX. The first borderline malignant phyllodes tumor had t(3;20)(p21;q13) as the sole abnormality. When the tumor recurred, this was no longer the only clone detected and the tumor karyotype was now 46,XX,t(3;20)(p21;q13)/46,XX,t(9;10)(p22;q22)/46,XX,t(1;8) (p34;q24)/46,XX,del(11)(q22-23)/46,XX. The malignant/borderline malignant/benign tumor had t(1;6)(p34;p22) as the sole clonal abnormality. Finally, the karyotype of the malignant phyllodes tumor which contained no benign or borderline malignant areas was 42,XX,der(1)t(1;4)(q21;q21),der(3)t(3;17)(q29;q21), -4,i(8)(q10), -10, -13,i(13)(q10),der(14)t(1;14)(q21;p11),der(14)t(4;14) (p12;p11), -17/80-90,idemx2, +del(1)(q12), +i(1)(p10), +dic(5;5)(p14;p14), +i(6)(p10), +del(7)(p11), +dup(7)(q11q36), +i(15)(q10),inc/46,XX. The findings indicate some cytogenetic similarities between benign/borderline malignant phyllodes tumors and fibroadenomas of the breast, presumably reflecting similar pathogenetic mechanisms in the two types of mixed-lineage tumors.

摘要

对5例乳腺叶状肿瘤进行短期培养后的细胞遗传学分析,这些肿瘤分类为良性(1例肿瘤)、交界性恶性(1991年和1993年从同一乳腺切除的2例肿瘤)和恶性(2例肿瘤),结果显示良性肿瘤、交界性恶性肿瘤以及1例同时存在良性区域和交界性恶性区域的恶性肿瘤存在伴有简单结构异常的克隆性改变。相比之下,未混合交界性恶性或良性区域的恶性肿瘤具有复杂的核型。良性叶状肿瘤的核型为46,XX,del(12)(p11p12)/46,XX,t(8;18)(p11;p11)/46,XX。第一例交界性恶性叶状肿瘤的唯一异常为t(3;20)(p21;q13)。肿瘤复发时,这不再是检测到的唯一克隆,此时肿瘤核型为46,XX,t(3;20)(p21;q13)/46,XX,t(9;10)(p22;q22)/46,XX,t(1;8)(p34;q24)/46,XX,del(11)(q22 - 23)/46,XX。恶性/交界性恶性/良性肿瘤的唯一克隆性异常为t(1;6)(p34;p22)。最后,不含良性或交界性恶性区域的恶性叶状肿瘤的核型为42,XX,der(1)t(1;4)(q21;q21),der(3)t(3;17)(q29;q21), - 4,i(8)(q10), - 10, - 13,i(13)(q10),der(14)t(1;14)(q21;p11),der(14)t(4;14)(p12;p11), - 17/80 - 90,idemx2, +del(1)(q12), +i(1)(p10), +dic(5;5)(p14;p14), +i(6)(p10), +del(7)(p11), +dup(7)(q11q36), +i(15)(q10),inc/46,XX。这些发现表明良性/交界性恶性叶状肿瘤与乳腺纤维腺瘤之间存在一些细胞遗传学相似性,推测反映了这两种混合谱系肿瘤相似的发病机制。

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