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神经内分泌癌中骨骼肌标志物的异常表达:一个重要的诊断陷阱。

"Aberrant" expression of skeletal muscle markers in neuroendocrine carcinomas: a significant diagnostic pitfall.

机构信息

Department of Pathology, Belfast Health and Social Care Trus, Grosvenor Road, Belfast, BT12 6BA, UK.

出版信息

Virchows Arch. 2024 Oct;485(4):625-629. doi: 10.1007/s00428-024-03838-0. Epub 2024 Jun 4.

DOI:10.1007/s00428-024-03838-0
PMID:38833174
Abstract

In this study, we investigate the expression of muscle markers, including the specific skeletal muscle markers myogenin and myoD1, in neuroendocrine carcinomas (NECs). The study included 23 NECs from various sites (14 small cell NECs and 9 large cell NECs). These were stained with desmin, myogenin and myoD1. Positive staining with at least one muscle marker was observed in 14 cases (61%). 8 (35%), 8 (35%) and 11 (48%) of the cases were positive with desmin, myogenin and myoD1 respectively. In most, but not all, cases positive staining was focal generally involving < 10% of tumour cells. Expression of muscle markers is not uncommon in NECs. This represents an important diagnostic pitfall of which pathologists should be aware. In reporting this phenomenon, we speculate on the pathogenesis of this "aberrant" expression of muscle markers.

摘要

在这项研究中,我们研究了肌肉标志物的表达,包括特定的骨骼肌标志物肌球蛋白和肌源蛋白 1(myoD1),在神经内分泌癌(NEC)中的表达。该研究包括来自不同部位的 23 例 NEC(14 例小细胞 NEC 和 9 例大细胞 NEC)。这些肿瘤用 desmin、myogenin 和 myoD1 进行染色。至少有一种肌肉标志物阳性的病例有 14 例(61%)。desmin、myogenin 和 myoD1 阳性的病例分别为 8 例(35%)、8 例(35%)和 11 例(48%)。在大多数(但不是全部)病例中,阳性染色通常为局灶性,一般累及肿瘤细胞的<10%。肌肉标志物的表达在 NEC 中并不少见。这是病理医生应该注意的一个重要诊断陷阱。在报告这种现象时,我们推测了这种“异常”肌肉标志物表达的发病机制。

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Virchows Arch. 2025 Jul 8. doi: 10.1007/s00428-025-04174-7.

本文引用的文献

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2
A comparison of adult rhabdomyosarcoma and high-grade neuroendocrine carcinoma of the urinary bladder reveals novel PPP1R12A fusions in rhabdomyosarcoma.横纹肌肉瘤和高级神经内分泌膀胱癌的比较研究揭示了横纹肌肉瘤中新型 PPP1R12A 融合。
Hum Pathol. 2019 Jun;88:48-59. doi: 10.1016/j.humpath.2019.03.007. Epub 2019 Apr 1.
3
INSM1 is a Sensitive and Specific Marker of Neuroendocrine Differentiation in Head and Neck Tumors.
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Am J Surg Pathol. 2018 May;42(5):665-671. doi: 10.1097/PAS.0000000000001037.
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Sinonasal Tract Alveolar Rhabdomyosarcoma in Adults: A Clinicopathologic and Immunophenotypic Study of Fifty-Two Cases with Emphasis on Epithelial Immunoreactivity.成人鼻窦肺泡横纹肌肉瘤:52例临床病理及免疫表型研究,重点关注上皮免疫反应性
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Epithelioid rhabdomyosarcoma: a clinicopathological study of seven additional cases supporting a distinctive variant with aggressive biological behaviour.上皮样横纹肌肉瘤:7例补充病例的临床病理研究,支持其为具有侵袭性生物学行为的独特亚型。
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