Can thyroid histomorphology identify patients with PTEN hamartoma tumour syndrome?

IF 3.9 2区 医学 Q2 CELL BIOLOGY Histopathology Pub Date : 2024-12-01 Epub Date: 2024-07-01 DOI:10.1111/his.15278
Melad N Dababneh, Laura Rabinowitz, Gilman Plitt, Charis Eng, Christopher C Griffith
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Abstract

Aims: The phosphatase and tensin homologue (PTEN) hamartoma tumour syndrome (PHTS) is a genetic disorder with variable clinical presentation and increased lifetime risk of multiorgan malignancies. The thyroid gland is commonly affected with follicular nodular disease (FND) and follicular cell-derived carcinomas. Histopathological and immunohistochemical assessment of thyroid disease in PHTS is essential to identify patients at-risk.

Methods and results: In all, 30 PHTS patients with available thyroidectomy specimen material (2000-2023) and 31 control patients with FND and "adenomatous nodules" were retrieved. Histologic criteria, including the frequency of adenomatous-type nodules versus hyperplastic-type nodules, background and nodular lipomatous metaplasia, chronic lymphocytic thyroiditis, cytoplasmic clearing of follicular cells in nodules, nodule-in-nodule appearance, and spectrum of nuclear atypia between nodules were evaluated in both cohorts and a Thyroid Histomorphologic PHTS Score (THiPS) system was established with a cutoff of 4 points or higher being considered concerning for PHTS. In all, 27 PHTS (90%) and five control (16.1%) cases had THiPS ≥4. A PTEN immunohistochemical stain was evaluated in 25 cases of each cohort and showed nuclear and cytoplasmic loss of expression in all or most of the nodules of 24/25 PHTS cases. In 3/25 control cases, two with THiPS ≥4, had loss of expression in one to multiple nodules. Conventional papillary thyroid carcinomas in PHTS patients retained PTEN cytoplasmic expression.

Conclusions: Our study supports that, although not specific, the finding of multiple histologic features is found more frequently in patients with PHTS compared to the non-PHTS control group. The THiPS system has high sensitivity for thyroid specimens from patients with PHTS.

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甲状腺组织形态学能否识别PTEN hamartoma肿瘤综合征患者?
目的:磷酸酶和天丝蛋白同源物(PTEN)火腿肠瘤综合征(PHTS)是一种遗传性疾病,临床表现多变,终生罹患多器官恶性肿瘤的风险增加。甲状腺通常会受到影响,出现滤泡结节病(FND)和滤泡细胞衍生癌。对PHTS患者的甲状腺疾病进行组织病理学和免疫组化评估对于识别高危患者至关重要:共检索了30例PHTS患者的甲状腺切除术标本材料(2000-2023年)和31例FND及 "腺瘤结节 "对照组患者的标本材料。组织学标准包括腺瘤型结节与增生型结节的频率、背景和结节性脂肪瘤变、慢性淋巴细胞性甲状腺炎、结节中滤泡细胞的胞浆清除、甲状腺组织形态学PHTS评分(THiPS)系统已经建立,4分或4分以上为PHTS。共有27例PHTS病例(90%)和5例对照病例(16.1%)的THiPS≥4。对每个组群中的 25 个病例进行了 PTEN 免疫组化染色评估,结果显示 24/25 个 PHTS 病例的所有或大部分结节中均存在核和胞质表达缺失。在3/25个对照病例中,有两个THiPS≥4的病例在一个至多个结节中出现表达缺失。PHTS患者的常规甲状腺乳头状癌保留了PTEN的胞浆表达:我们的研究表明,尽管没有特异性,但与非PHTS对照组相比,PHTS患者更常发现多种组织学特征。THiPS系统对PHTS患者的甲状腺标本具有很高的灵敏度。
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来源期刊
Histopathology
Histopathology 医学-病理学
CiteScore
10.20
自引率
4.70%
发文量
239
审稿时长
1 months
期刊介绍: Histopathology is an international journal intended to be of practical value to surgical and diagnostic histopathologists, and to investigators of human disease who employ histopathological methods. Our primary purpose is to publish advances in pathology, in particular those applicable to clinical practice and contributing to the better understanding of human disease.
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