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甲状腺嗜酸性腺瘤和癌的间期细胞遗传学

Interphase cytogenetics in oncocytic adenomas and carcinomas of the thyroid gland.

作者信息

Mazzucchelli L, Burckhardt E, Hirsiger H, Kappeler A, Laissue J A

机构信息

Institute of Pathology, University of Bern, Switzerland.

出版信息

Hum Pathol. 2000 Jul;31(7):854-9. doi: 10.1053/hupa.2000.8444.

Abstract

Follicular neoplasms of oncocytic type in the thyroid gland frequently cause diagnostic problems and prognostic uncertainties. To identify numerical chromosomal aberrations of possible pathogenetic importance, we determined chromosome copy numbers in situ in interphase nuclei of 31 oncocytic adenomas and 25 oncocytic carcinomas. Archival formaldehyde-fixed, paraffin-embedded tumor samples and normal control thyroid tissues were arranged in arrays and analyzed by fluorescence in situ hybridization (FISH). We used pericentromeric or locus specific probes for chromosomes 1, 7, 8, 9, 11, 12, 17, 18, 22, and X as well as for the oncogenes Her2/neu, cyclin D1, N-myc, and c-myc. The average number of aneusomies per nucleus was significantly higher in carcinomas than in adenomas, and in both, monosomies were more frequent than polysomies. Loss of chromosome 22 was found in 8 of 21 (38%) carcinomas; in 5 cases, it was associated with chromosome 2 monosomy. Conversely, chromosome 2 aberrations were not found in adenomas. Monosomies for chromosome 8 and X were detected in most adenomas and carcinomas. The most common gains in adenomas and carcinomas were for chromosome 7 (13.8% and 32.0% of the cases, respectively), chromosome 12 (9.6% and 12.0%), and chromosome 17 (19.3% and 32.0%). None of the adenomas with trisomy 17 was associated with gains for chromosomes 7 and 12. None of the analyzed oncogenes was found to be amplified by FISH analysis. Our results indicate that numerical chromosomal aberrations in oncocytic follicular tumors of the thyroid gland are common findings and suggest that different patterns of aberrations may occur in these neoplasms.

摘要

甲状腺嗜酸性细胞型滤泡性肿瘤常常引发诊断难题和预后的不确定性。为了确定可能具有致病重要性的染色体数目畸变,我们测定了31例嗜酸性腺瘤和25例嗜酸性癌间期核中的染色体拷贝数。将存档的甲醛固定、石蜡包埋的肿瘤样本及正常对照甲状腺组织制成阵列,通过荧光原位杂交(FISH)进行分析。我们使用了着丝粒周围或基因座特异性探针检测1、7、8、9、11、12、17、18、22号染色体以及X染色体,同时检测癌基因Her2/neu、细胞周期蛋白D1、N - myc和c - myc。癌中每个细胞核的平均非整倍体数目显著高于腺瘤,并且在两者中,单体性比多体性更常见。在21例癌中有8例(38%)发现22号染色体缺失;在5例中,它与2号染色体单体性相关。相反,腺瘤中未发现2号染色体畸变。大多数腺瘤和癌中检测到8号和X号染色体单体性。腺瘤和癌中最常见的染色体增加分别是7号染色体(分别占病例的13.8%和32.0%)、12号染色体(9.6%和12.0%)以及17号染色体(19.3%和32.0%)。17号染色体三体的腺瘤均未伴有7号和12号染色体增加。FISH分析未发现所检测的癌基因有扩增。我们的结果表明,甲状腺嗜酸性滤泡性肿瘤中的染色体数目畸变是常见现象,并提示这些肿瘤可能出现不同的畸变模式。

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