Comprehensive evaluation of cytomorphologic, histologic, and molecular features of DICER1-altered thyroid lesions on FNA: A multipractice experience

IF 3.2 3区医学 Q3 ONCOLOGY Cancer Cytopathology Pub Date : 2024-03-23 DOI:10.1002/cncy.22805

Krisztina Lengyel MD, Daniel J. Lubin MD, Wen-Yu Hsiao MD, Sam Sirotnikov DO, Guangju Luo MD, James W. Roberts MD, Qiuying Shi MD MS, Kelly Magliocca DMD, Melinda M. Lewis MD, Donald L. Sears MD, Ghulam Ilyas MD, Beverly B. Rogers MD, Kartik Viswanathan MD PhD

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Abstract

Background

DICER1 mutations, though infrequent, are encountered on preoperative molecular testing of indeterminate adult and pediatric thyroid fine-needle aspiration (FNA) specimens. Yet, published cytomorphologic features of DICER1-altered thyroid lesions are limited. Cytomorphological features of DICER1-altered thyroid lesions were examined in a multipractice FNA cohort with clinical, radiological, and histologic data.

Methods

The cohort comprised 18 DICER1-altered thyroid FNAs, with 14 having slides available and eight having corresponding surgical resections. Smears, ThinPrep, and formalin-fixed cell block slides were reviewed and correlated with histology, when available. Clinical and radiologic data were obtained from the medical record.

Results

Most DICER1-altered FNAs were classified as atypia of undetermined significance (94.4%). DICER1 mutations occurred in codons 1709 (50%), 1810 (27.8%), and 1813 (22.2%). One patient had an additional DICER1 p.D1822N variant in both of their FNAs. Lesions were often hypoechoic (35.3%) and solid (47.1%) on ultrasound. Notable cytomorphologic features include mixed but prominent microfollicular or crowded component, variable colloid, and insignificant nuclear atypia. On resection (n = 10), histologic diagnoses ranged from benign follicular adenoma and low-risk follicular thyroid carcinoma to high-grade follicular–derived nonanaplastic thyroid carcinoma. Subcapsular infarct-type change was the most common histologic change. There was no evidence of recurrence or metastasis in eight patients on limited follow-up.

Conclusion

DICER1-altered thyroid lesions occurred frequently in young females and FNAs show RAS-like cytomorphology including crowded, mixed macro-/microfollicular pattern, and bland nuclear features. On resection, DICER1-altered thyroid lesions include benign (50%), low-risk lesions (30%), or high-risk malignancies (20%).

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综合评估FNA上DICER1改变的甲状腺病变的细胞形态学、组织学和分子特征：多点执业经验。

背景：成人和儿童甲状腺细针穿刺（FNA）标本的术前分子检测中发现了DICER1突变，尽管这种情况并不常见。然而，已发表的DICER1基因变异甲状腺病变的细胞形态学特征却很有限。我们通过临床、放射学和组织学数据，对多例FNA队列中DICER1改变的甲状腺病变的细胞形态学特征进行了研究：该队列包括18例DICER1改变的甲状腺FNA，其中14例有切片，8例有相应的手术切除。对涂片、ThinPrep和福尔马林固定细胞块切片进行了复查，并与现有组织学资料进行了比对。临床和放射学数据来自病历：大多数 DICER1 变异的 FNA 被归类为意义未定的不典型性（94.4%）。DICER1突变发生在密码子1709（50%）、1810（27.8%）和1813（22.2%）。一名患者的两个 FNA 中都有一个额外的 DICER1 p.D1822N 变异。病变在超声检查中通常呈低回声（35.3%）和实性（47.1%）。显著的细胞形态学特征包括混合但突出的微滤泡或拥挤成分、可变的胶体和不明显的核不典型性。切除后（n = 10），组织学诊断范围从良性滤泡腺瘤和低危滤泡性甲状腺癌到高级别滤泡源性非贫甲状腺癌。囊下梗死型改变是最常见的组织学改变。在有限的随访中，8名患者没有复发或转移的迹象：结论：DICER1改变的甲状腺病变常发生于年轻女性，FNA显示RAS样细胞形态，包括拥挤、混合性大/小叶形态和平淡的核特征。切除时，DICER1改变的甲状腺病变包括良性病变（50%）、低风险病变（30%）或高风险恶性病变（20%）。

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来源期刊

Cancer Cytopathology 医学-病理学

CiteScore

7.00

自引率

17.60%

发文量

130

审稿时长

1 months

期刊介绍： Cancer Cytopathology provides a unique forum for interaction and dissemination of original research and educational information relevant to the practice of cytopathology and its related oncologic disciplines. The journal strives to have a positive effect on cancer prevention, early detection, diagnosis, and cure by the publication of high-quality content. The mission of Cancer Cytopathology is to present and inform readers of new applications, technological advances, cutting-edge research, novel applications of molecular techniques, and relevant review articles related to cytopathology.