RNA测序证实NSD3::NUTM1融合在低分化甲状腺癌中：附两例报告

IF 4.3 2区医学 Q2 ENDOCRINOLOGY & METABOLISM

European Thyroid Journal Pub Date : 2025-10-06 Print Date: 2025-10-01 DOI:10.1530/ETJ-25-0100

Renaud Ciappuccini, Virginie Saguet-Rysanek, Paul-Antoine Bompain, Jacques Balosso, Raphaël Leman, Laurent Castera, Stéphane Bardet

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引用次数: 0

摘要

背景：睾丸核蛋白癌（NUT）是侵袭性的、低分化或未分化的癌症，通常起源于中线结构。这种鳞状细胞癌的亚型是罕见的，预后很差。NUT癌是由NUTM1融合定义的。NUTM1基因的重排在原发性甲状腺癌中很少被描述，主要报道在≤45岁的患者中。NSD3::NUTM1易位是甲状腺癌中最常见的NUTM1融合转录物。由于它们非常罕见，NUTM1融合在低分化甲状腺癌（PDTC）或间变性甲状腺癌（ATC）中并不常见。病例介绍：我们报告了两例PDTC患者，年龄为bb0 ~ 65岁，局部进展，18fdg明显远处转移。NSD3::NUTM1易位通过我们机构下一代测序（NGS）小组的RNA测序在两例患者中得到证实。结论：我们建议在晚期和难治性甲状腺癌的RNA测序小组中包括寻找NUTM1融合物。睾丸核蛋白癌（NUT）是一种罕见的、侵袭性的、低分化或未分化的癌症，预后较差，通常发生在年轻患者的中线结构。NUTM1融合可以通过免疫组织化学（IHC）、荧光原位杂交（FISH）或RNA测序来证明。NUTM1融合很少在原发性甲状腺癌中被描述，通常发生在≤45岁的患者中。NSD3::NUTM1易位是甲状腺癌中最常见的NUTM1融合转录物。由于它们非常罕见，NUTM1融合在低分化甲状腺癌（PDTC）或间变性甲状腺癌（ATC）中并不常见。新见解：我们报告了两例bb0 65岁的局部侵袭性难治性PDTC和NSD3::NUTM1易位患者。NSD3::NUTM1易位可能在局部晚期PDTC/ATC中更系统地寻找，没有点DNA突变或其他重排。该策略将更好地识别这些患者，其病理诊断和临床管理可能具有挑战性。

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NSD3::NUTM1 fusion evidenced on RNA sequencing in poorly differentiated thyroid cancer: a report of two cases.

Background: Nuclear protein in testis (NUT) carcinomas are aggressive, poorly or undifferentiated cancers, generally arising from midline structures. This subtype of squamous cell carcinoma is rare and has a poor prognosis. NUT cancers are defined by NUTM1 fusions. Rearrangements of the NUTM1 gene have rarely been described in primary thyroid cancer and are mainly reported in patients ≤45 years old. NSD3::NUTM1 translocation is the most common NUTM1 fusion transcript reported in thyroid cancer. As they are very infrequent, NUTM1 fusions are not routinely sought in poorly differentiated thyroid cancer (PDTC) or anaplastic thyroid cancer (ATC).

Case presentation: We report two PDTC patients >65 years old with locally advanced disease and 18FDG-avid distant metastases. NSD3::NUTM1 translocation was evidenced in both patients by RNA sequencing using the next-generation sequencing panel of our institution.

Conclusion: We suggest including the search for NUTM1 fusions in the RNA sequencing panel for advanced and refractory thyroid cancers.

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来源期刊

European Thyroid Journal Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

6.70

自引率

2.10%

发文量

156

期刊介绍： The ''European Thyroid Journal'' publishes papers reporting original research in basic, translational and clinical thyroidology. Original contributions cover all aspects of the field, from molecular and cellular biology to immunology and biochemistry, from physiology to pathology, and from pediatric to adult thyroid diseases with a special focus on thyroid cancer. Readers also benefit from reviews by noted experts, which highlight especially active areas of current research. The journal will further publish formal guidelines in the field, produced and endorsed by the European Thyroid Association.