在一例恶性卵巢甲状腺肿中发生的BRAF T1799A突变。

BRAF T1799A mutation occurring in a case of malignant struma ovarii.

作者信息

Flavin Richard, Smyth Paul, Crotty Paul, Finn Stephen, Cahill Susanne, Denning Karen, O'Regan Esther, O'Leary John, Sheils Orla

机构信息

Departments of Histopathology, St. James's Hospital, Trinity College, Dublin, Ireland.

出版信息

Int J Surg Pathol. 2007 Apr;15(2):116-20. doi: 10.1177/1066896906299131.

DOI:10.1177/1066896906299131

PMID:17478764

Abstract

Struma ovarii is an extremely rare tumor that occasionally undergoes malignant transformation. Because struma ovarii is composed of thyroid tissue, it is conceivable that the pathogenetic events involved in thyroid follicular transformation may take place also in struma ovarii. The authors describe a case of a classical variant of papillary thyroid carcinoma arising in a struma ovarii of a 22-year-old female. The tumor was heterozygous for BRAF T1799A mutation. No ret/ PTC-1 or ret/PTC-3 rearrangements were detected. This finding would suggest that malignant struma ovarii is similar histologically and genetically to primary papillary thyroid carcinoma.

摘要

卵巢甲状腺肿是一种极其罕见的肿瘤，偶尔会发生恶性转化。由于卵巢甲状腺肿由甲状腺组织构成，可以想象，甲状腺滤泡转化所涉及的致病事件也可能在卵巢甲状腺肿中发生。作者描述了一例发生在一名22岁女性卵巢甲状腺肿中的经典型乳头状甲状腺癌病例。该肿瘤BRAF T1799A突变呈杂合状态。未检测到ret/PTC-1或ret/PTC-3重排。这一发现表明，恶性卵巢甲状腺肿在组织学和遗传学上与原发性乳头状甲状腺癌相似。