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A detailed clinicopathologic study of ALK-translocated papillary thyroid carcinoma.

ALK易位性甲状腺乳头状癌的临床病理研究

Chou A,Fraser S,Toon CW,Clarkson A,Sioson L,Farzin M,Cussigh C,Aniss A,O'Neill C,Watson N,Clifton-Bligh RJ,Learoyd DL,Robinson BG,Selinger CI,Delbridge LW,Sidhu SB,O'Toole SA,Sywak M,Gill AJ

Abstract

Pathogenic ALK translocations have been reported in papillary thyroid carcinoma (PTC). We developed and validated a screening algorithm based on immunohistochemistry (IHC), followed by fluorescence in situ hybridization (FISH) in IHC-positive cases to identify ALK-rearranged PTC. IHC and FISH were performed in a cohort of 259 thyroid carcinomas enriched for aggressive variants. IHC was positive in 8 cases, 6 confirmed translocated by FISH (specificity 75%). All 251 IHC-negative cases were FISH negative (sensitivity 100%). Having validated this approach, we performed screening IHC, followed by FISH in IHC-positive cases in an expanded cohort. ALK translocations were identified in 11 of 498 (2.2%) of all consecutive unselected PTCs and 3 of 23 (13%) patients with diffuse sclerosing variant PTCs. No ALK translocations were identified in 36 PTCs with distant metastases, 28 poorly differentiated (insular) carcinomas, and 20 anaplastic carcinomas. All 14 patients with ALK translocations were female (P=0.0425), and translocations occurred at a younger age (mean 38 vs. 48 y, P=0.0289 in unselected patients). ALK translocation was an early clonal event present in all neoplastic cells and mutually exclusive with BRAF mutation. ALK translocation was not associated with aggressive clinicopathologic features (size, stage, metastasis, vascular invasion, extrathyroidal extension, multifocality, risk for recurrence, radioiodine resistance). We conclude that 2.2% of PTCs are ALK-translocated and can be identified by screening IHC followed by FISH. ALK translocations may be more common in young females and diffuse sclerosing variant PTC but do not connote more aggressive disease.

摘要

目前有报道指出甲状腺乳头状癌(PTC)中存在基因ALK的致病性易位。作者在免疫组化(IHC)的基础上设计并验证了一种筛查方案,对IHC阳性的病例通过荧光原位杂交(FISH)来进一步识别ALK重排型PTC。对259例侵袭性较强的甲状腺癌进行了IHC和FISH分析, 8例IHC阳性的病例中,通过FISH证实有6例存在ALK的易位,特异性为75%;其余251例IHC阴性的病例,FISH检查同样阴性,敏感性为100%。在498例未经筛选过的PTCs中,11例(2.2%)发现了ALK的易位,23例弥漫硬化型PTCs中3例(13%)发现了ALK的易位;36例伴远处转移的PTCs、28例差分化癌(岛状癌)、20例间变性癌中没有发现ALK的易位;14例ALK易位的患者全部为女性(P=0.0425),且发生在较年轻的患者(平均年龄38岁,而所有患者的平均年龄为48岁,P=0.0289)。ALK易位出现在所有肿瘤细胞的早期克隆性事件中,与BRAFV600E突变相互排斥。ALK易位与侵袭性的临床病理特征无关(包括瘤体大小、分期、转移、血管侵犯、腺外播散、复发的风险及放射性碘抵抗性)。作者通过IHC和FISH发现2.2%的PTCs中存在ALK的易位,ALK易位在年轻女性和弥漫硬化型PTC患者中更加常见,但并不意味着更具侵袭性的临床过程。
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