DICER1 Mutations Define the Landscape of Poorly Differentiated Thyroid Carcinoma in Children and Young Adults : Case Report and Literature Review.

IF 4.5 1区 医学 Q1 PATHOLOGY American Journal of Surgical Pathology Pub Date : 2024-10-01 Epub Date: 2024-06-24 DOI:10.1097/PAS.0000000000002265
Jonas Ver Berne, Annick Van den Bruel, Stefanie Vermeire, Pascale De Paepe
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Abstract

Poorly differentiated thyroid carcinoma (PDTC) is a rare malignancy, representing ~1% of all thyroid tumors. It is characterized by high-grade histologic features without the anaplastic characteristics observed in anaplastic thyroid carcinoma. Although rare in children and young adults, there is emerging evidence of clinical and genetic differences with PDTC in adults. We present a case of a 19-year-old female with a right thyroid lobe nodule classified as an EU-TIRADS 5 lesion. Subsequent FNAC showed a cellular aspirate of solitary cells and scant microfollicles with variable nuclear irregularities, which was designated a Bethesda class IV lesion. Thyroidectomy revealed histopathological features consistent with PDTC, including solid/trabecular growth, increased mitotic activity, central necrosis, and extensive vascular invasion. Molecular analysis identified germline and somatic DICER1 mutations in the absence of other established driver mutations of PDTC. This case report describes the fourth reported patient with a PDTC and germline DICER1 mutation. Our findings contribute to a limited body of literature on pediatric/young adult PDTC cases and highlight the pivotal role of DICER1 mutations. Emerging evidence suggests that pediatric PDTC may exhibit unique clinical and genetic characteristics, prompting further research into its molecular profile.

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DICER1突变决定了儿童和年轻人中分化不良甲状腺癌的格局:病例报告与文献综述
分化不良甲状腺癌(PDTC)是一种罕见的恶性肿瘤,约占所有甲状腺肿瘤的1%。它的特点是组织学特征分化程度高,但不具备甲状腺无性细胞癌的特征。虽然在儿童和青壮年中很少见,但有新的证据表明它与成人的 PDTC 在临床和遗传方面存在差异。我们介绍了一例19岁女性的病例,她的右甲状腺叶结节被归类为EU-TIRADS 5病变。随后的 FNAC 显示,细胞抽吸物为单细胞和稀少的微滤泡,核不规则,被定为贝塞斯达 IV 级病变。甲状腺切除术显示的组织病理学特征与 PDTC 一致,包括实性/乳头状生长、有丝分裂活性增强、中心坏死和广泛的血管侵犯。分子分析发现该患者存在种系和体细胞 DICER1 基因突变,但未发现 PDTC 的其他驱动基因突变。本病例报告描述了第四例PDTC种系DICER1突变患者。我们的研究结果为有关小儿/年轻成人 PDTC 病例的有限文献做出了贡献,并强调了 DICER1 突变的关键作用。新的证据表明,小儿 PDTC 可能表现出独特的临床和遗传特征,这促使我们对其分子特征进行进一步研究。
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来源期刊
CiteScore
10.30
自引率
5.40%
发文量
295
审稿时长
1 months
期刊介绍: The American Journal of Surgical Pathology has achieved worldwide recognition for its outstanding coverage of the state of the art in human surgical pathology. In each monthly issue, experts present original articles, review articles, detailed case reports, and special features, enhanced by superb illustrations. Coverage encompasses technical methods, diagnostic aids, and frozen-section diagnosis, in addition to detailed pathologic studies of a wide range of disease entities. Official Journal of The Arthur Purdy Stout Society of Surgical Pathologists and The Gastrointestinal Pathology Society.
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