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Whole-Genome and Segmental Homozygosity Confirm Errors in Meiosis as Etiology of Struma Ovarii.

全基因组和节段性纯合子确认减数分裂错误是卵巢甲状腺肿的病因。

  • 影响因子:1.67
  • DOI:10.1159/000504908
  • 作者列表:"Henderson BB","Chaubey A","Roth LM","Robboy SJ","Tarasidis G","Jones JR","Sundermann JM","Chou J","Craddock AL","Stevenson L","Friez MJ","Kincaid EH","Stevenson RE
  • 发表时间:2020-01-01
Abstract

:Strumae ovarii are neoplasms composed of normal-appearing thyroid tissue that occur within the ovary and rarely spread to extraovarian sites. A unique case of struma ovarii with widespread dissemination detected 48 years after removal of a pelvic dermoid provided the opportunity to reexamine the molecular nature of this form of neoplasm. One tumor, from the heart, consisting of benign thyroid tissue was found to have whole-genome homozygosity. Another tumor from the right mandible composed of malignant-appearing thyroid tissue showed whole-genome homozygosity and a deletion of 7p, presumably the second hit that transformed it into a cancerous tumor. Specimens from 2 other cases of extraovarian struma confined to the abdomen and 8 of 9 cases of intraovarian struma showed genome-wide segmental homozygosity. These findings confirm errors in meiosis as the origin of struma ovarii. The histological and molecular findings further demonstrate that even when outside the ovary, strumae ovarii can behave nonaggressively until they receive a second hit, thereafter behaving like cancer.

摘要

: 卵巢甲状腺肿是由正常甲状腺组织组成的肿瘤,发生在卵巢内,很少扩散到卵巢外部位。在切除盆腔皮样瘤 48 年后发现了一例独特的广泛播散的卵巢甲状腺肿病例,为重新检查这种肿瘤的分子性质提供了机会。发现一个来自心脏的由良性甲状腺组织组成的肿瘤具有全基因组纯合性。另一种来自右下颌骨的肿瘤由恶性甲状腺组织组成,显示全基因组纯合子和 7p缺失,推测是第二次击中将其转化为癌性肿瘤。其他 2 例局限于腹部的卵巢外甲状腺肿和 9 例卵巢内甲状腺肿中的 8 例标本显示全基因组节段性纯合。这些发现证实了减数分裂的错误是卵巢甲状腺肿的起源。组织学和分子学研究结果进一步证明,即使在卵巢外,卵巢甲状腺肿也可以表现为非侵袭性,直到受到第二次打击,此后表现为癌症。

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DOI:10.1259/bjr.20180883
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发表时间:2020-03-01
DOI:10.1177/1078155219842277
作者列表:["Gyori DJ","Bullington SM","Crawford BS","Vernon VP"]

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影响因子:2.83
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骨肿瘤方向

骨肿瘤是发生于骨骼或其附属组织的肿瘤。有良性,恶性之分,良性骨肿瘤易根治,预后良好,恶性骨肿瘤发展迅速,预后不佳,死亡率高。

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