Allelic loss of the retinoblastoma tumor suppressor gene: a marker for aggressive parathyroid tumors?
Allelic loss of the retinoblastoma tumor suppressor gene: a marker for aggressive parathyroid tumors?
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视网膜母细胞瘤抑癌基因的等位基因缺失：侵袭性甲状旁腺肿瘤的标志物？
DOI：
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发表时间：
1996
影响因子：
5.8
通讯作者：
C. Larsson
中科院分区：
文献类型：
--
作者：
C. Dotzenrath;B. Teh;F. Farnebo;K. Cupisti;A. Svensson;A. Toell;P. Goretzki;C. Larsson
最近显示视网膜母细胞瘤抑癌基因的等位基因缺失对于甲状旁腺癌具有高度特异性。有人提出，这种遗传异常可能对甲状旁腺癌具有诊断和预后意义，但迄今为止，还没有进一步的研究来证实这些发现。在本研究中，对三例非典型复发性甲状旁腺功能亢进症进行了检查：一名患有甲状旁腺癌和自体移植腺瘤进展为癌的患者，一名复发性青少年甲状旁腺功能亢进症患者，以及一名由于自体移植物快速生长而患有严重复发性继发性甲状旁腺功能亢进症的患者。还对散发性甲状旁腺腺瘤和继发性甲状旁腺疾病各六对进行了研究以进行比较。在甲状旁腺癌和以前被认为是良性组织的相应自体移植物以及复发性幼年甲状旁腺功能亢进症的病例中发现了 13q14 处 RB 和 D13S71 的等位基因丢失，但在任何其他肿瘤中都没有发现。我们的研究结果支持了之前的研究结果，即 RB 或 13q 缺失对于侵袭性增加的甲状旁腺肿瘤具有特异性，可能具有临床意义。
Allelic loss of the retinoblastoma tumor suppressor gene has recently been shown to be highly specific for parathyroid carcinoma. It has been proposed that this genetic abnormality may have diagnostic and prognostic implications for parathyroid carcinoma, but to date no further studies are available to substantiate these findings. In the present study, three cases of atypical recurrent hyperparathyroidism were examined: a patient with parathyroid carcinoma and an autotransplanted adenoma that progressed into carcinoma, a patient with recurrent juvenile hyperparathyroidism, and a patient with severe recurrent secondary hyperparathyroid disease due to rapidly growing autotransplant. Six pairs each of sporadic parathyroid adenoma and secondary parathyroid disease were also studied for comparison. Allelic losses of RB and D13S71 at 13q14 was found in the parathyroid carcinoma and the corresponding autotransplant that had previously been considered benign tissue and in the case of recurrent juvenile hyperparathyroidism, but not in any of the other tumors. Our findings support the findings of the previous study that RB or 13q loss is specific for parathyroid tumors with increased aggressiveness and might be of clinical significance.
尿毒症甲状旁腺功能亢进症的进展涉及 11 号染色体上的等位基因丢失。
DOI：
10.1210/jcem.76.1.8421078
发表时间：
1993
期刊：
The Journal of clinical endocrinology and metabolism
影响因子：
--
作者：
Falchetti,A;Bale,AE;Amorosi,A;Bordi,C;Cicchi,P;Bandini,S;Marx,SJ;Brandi,ML
通讯作者：
Brandi,ML