妊娠期甲状腺母细胞瘤:扩大dicer1相关实体的细胞形态学谱,一例报告和文献综述

IF 1 4区 医学 Q4 MEDICAL LABORATORY TECHNOLOGY
R. Razack, A. C. van Wyk, P. T. Schubert, D. Pelletier, W. D. Foulkes, C. Njovu, W. Conradie, F. Hoosain
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引用次数: 0

摘要

甲状腺母细胞瘤是一种罕见的侵袭性甲状腺肿瘤,新列入2022年WHO内分泌肿瘤分类。它的特点是胚胎,多系形态和DICER1突变。不到15例明确的病例已被报道,与有限的细胞学描述。一例19岁孕妇,右侧甲状腺肿块迅速增大。细针穿刺活检(FNAB)显示一个高度细胞化的三相抽吸物,由排列在大滤泡结构中的原始上皮、黏液样基质中的纺锤状间充质细胞和小的圆形胚细胞组成。免疫细胞化学显示上皮细胞中TTF-1和PAX8阳性,胚细胞中突触素和SALL4阳性,纺锤体和胚细胞成分中肌原素阳性,支持甲状腺母细胞瘤的细胞学诊断。她在妊娠中期接受了全甲状腺切除术和颈部清扫术。组织学证实为甲状腺母细胞瘤伴广泛淋巴结转移。化疗在怀孕期间开始,但由于中性粒细胞减少并发症而停止。她生下了一个健康的婴儿,并在12个月的随访中没有患病。新一代肿瘤DNA测序显示了两个体细胞DICER1突变:已知的热点错义突变C . 5437g >;C;p.E1813Q和一个新的剪接位点变体c.734+1G>;T,预计会破坏正常的剪接和蛋白质功能。在种系DNA中未发现致病性变异,支持体细胞起源。结论本病例扩展了甲状腺母细胞瘤的细胞学和分子谱,突出了FNAB在早期识别中的价值。了解这种罕见的实体及其诊断特征对于避免误分类和确保及时治疗至关重要。新的DICER1剪接位点突变进一步促进了甲状腺母细胞瘤分子格局的演变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1-Associated Entity, a Case Report and Literature Review

Thyroblastoma in Pregnancy: Expanding the Cytomorphological Spectrum of a Novel DICER1-Associated Entity, a Case Report and Literature Review

Introduction

Thyroblastoma is a rare, aggressive thyroid neoplasm newly classified in the 2022 WHO Classification of Endocrine Tumors. It is characterized by embryonal, multilineage morphology and DICER1 mutations. Fewer than 15 well-characterized cases have been reported, with limited cytological descriptions.

Case Presentation

A 19-year-old pregnant woman presented with a rapidly enlarging right thyroid mass. Fine needle aspiration biopsy (FNAB) revealed a highly cellular, triphasic aspirate composed of primitive epithelium arranged in macrofollicular structures, spindled mesenchymal cells within a myxoid matrix, and small round blastemal cells. Immunocytochemistry showed TTF-1 and PAX8 positivity in epithelial cells, synaptophysin and SALL4 in blastemal cells, and myogenin in both spindled and blastemal components, supporting a cytological diagnosis of thyroblastoma. She underwent total thyroidectomy and neck dissection during the second trimester. Histology confirmed thyroblastoma with extensive lymph node metastases. Chemotherapy was initiated during pregnancy but discontinued due to neutropenic complications. She delivered a healthy infant and remained disease-free at her 12-month follow-up.

Molecular Findings

Next-generation sequencing of tumor DNA revealed two somatic DICER1 mutations: a known hotspot missense mutation, c.5437G>C; p.E1813Q, and a novel splice-site variant, c.734+1G>T, predicted to disrupt normal splicing and protein function. No pathogenic variants were found in germline DNA, supporting a somatic origin.

Conclusion

This case expands the cytological and molecular spectrum of thyroblastoma and highlights the value of FNAB in early recognition. Awareness of this rare entity and its diagnostic features is essential to avoid misclassification and ensure timely management. The novel DICER1 splice-site mutation further contributes to the evolving molecular landscape of thyroblastoma.

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来源期刊
Diagnostic Cytopathology
Diagnostic Cytopathology 医学-病理学
CiteScore
2.60
自引率
7.70%
发文量
163
审稿时长
3-6 weeks
期刊介绍: Diagnostic Cytopathology is intended to provide a forum for the exchange of information in the field of cytopathology, with special emphasis on the practical, clinical aspects of the discipline. The editors invite original scientific articles, as well as special review articles, feature articles, and letters to the editor, from laboratory professionals engaged in the practice of cytopathology. Manuscripts are accepted for publication on the basis of scientific merit, practical significance, and suitability for publication in a journal dedicated to this discipline. Original articles can be considered only with the understanding that they have never been published before and that they have not been submitted for simultaneous review to another publication.
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