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指状乳头状腺癌:低风险人乳头瘤病毒的检测及部分病例中的p.V600E突变

Digital Papillary Adenocarcinoma: The Detection of Low-Risk Human Papillomaviruses and the p.V600E Mutation in a Subset of Cases.

作者信息

Chen Feifan, Nagarajan Priyadharsini, Aung Phyu P

机构信息

Department of Anatomic Pathology, MD Anderson Cancer Center, The University of Texas, Houston, TX 77030, USA.

出版信息

Dermatopathology (Basel). 2024 Jun 28;11(3):177-183. doi: 10.3390/dermatopathology11030018.

DOI:10.3390/dermatopathology11030018
PMID:39051320
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11270320/
Abstract

Digital papillary adenocarcinoma (DPA) is a rare malignant neoplasm which arises from the sweat glands and has metastatic potential. DPA exhibits a wide range of architectural features and exhibits low-grade to high-grade features, so distinguishing DPA from benign skin neoplasms, including acral hidradenoma, poses significant diagnostic challenges. The recent literature suggests a strong association between DPA and human papillomavirus (HPV) 42, a low-risk HPV (LR-HPV) subtype, and a possible association between DPA and p.V600E. To explore these associations, we assessed the utility of in situ hybridization (ISH) for LR-HPV (types 6, 11, 40, 42, 43, 44) and immunohistochemistry (IHC) for p.V600E in diagnosing DPA and distinguishing DPA from acral hidradenoma. With institutional review board approval, we retrospectively identified 15 specimens of DPA (from 13 patients) and 3 cases of acral hidradenoma. Of the 13 DPA cases, 6 were negative for LR-HPV and p.V600E; 6 were positive for only LR-HPV; and 1 was positive for only p.V600E but negative for LR-HPV. All three cases of acral hidradenoma were negative for LR-HPV and p.V600E. As our sample size is limited, larger studies are needed to assess the value of detecting LR-HPV and p.V600E in the distinction of DPA and acral hidradenoma. However, our findings indicate a stronger association of DPA with LR-HPV than with p.V600E.

摘要

指状乳头状腺癌(DPA)是一种罕见的恶性肿瘤,起源于汗腺,具有转移潜能。DPA表现出广泛的结构特征,具有低级别到高级别的特征,因此将DPA与良性皮肤肿瘤(包括肢端汗腺瘤)区分开来面临重大的诊断挑战。最近的文献表明,DPA与低风险人乳头瘤病毒(HPV)42型之间存在密切关联,并且DPA与p.V600E之间可能存在关联。为了探究这些关联,我们评估了原位杂交(ISH)检测低风险HPV(6、11、40、42、43、44型)以及免疫组织化学(IHC)检测p.V600E在诊断DPA以及区分DPA与肢端汗腺瘤方面的效用。经机构审查委员会批准,我们回顾性鉴定了15例DPA标本(来自13名患者)和3例肢端汗腺瘤。在13例DPA病例中,6例低风险HPV和p.V600E检测呈阴性;6例仅低风险HPV检测呈阳性;1例仅p.V600E检测呈阳性,但低风险HPV检测呈阴性。所有3例肢端汗腺瘤低风险HPV和p.V600E检测均为阴性。由于我们的样本量有限,需要开展更大规模的研究来评估检测低风险HPV和p.V600E在区分DPA和肢端汗腺瘤方面的价值。然而,我们的研究结果表明,DPA与低风险HPV的关联比与p.V600E的关联更强。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/103d/11270320/84a0dc294df3/dermatopathology-11-00018-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/103d/11270320/84a0dc294df3/dermatopathology-11-00018-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/103d/11270320/84a0dc294df3/dermatopathology-11-00018-g001.jpg

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引用本文的文献

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本文引用的文献

1
Panviral metagenomic sequencing provides further evidence for human papillomavirus 42 association with digital papillary adenocarcinoma.泛病毒宏基因组测序为人类乳头瘤病毒42与指状乳头状腺癌的关联提供了进一步证据。
Hum Pathol. 2024 Jan;143:77-80. doi: 10.1016/j.humpath.2023.10.004. Epub 2023 Nov 14.
2
Sweat Gland Tumors Arising on Acral Sites: A Molecular Survey.肢端部位汗腺肿瘤:一项分子调查。
Am J Surg Pathol. 2023 Oct 1;47(10):1096-1107. doi: 10.1097/PAS.0000000000002098. Epub 2023 Jul 31.
3
Acral BRAF-mutated tubular adenoma should be distinguished from HPV42-related digital papillary adenocarcinoma.
肢端BRAF突变型管状腺瘤应与HPV42相关的指状乳头状腺癌相鉴别。
J Cutan Pathol. 2023 Jun;50(6):577-579. doi: 10.1111/cup.14430. Epub 2023 Apr 14.
4
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J Cutan Pathol. 2023 Jun;50(6):568-576. doi: 10.1111/cup.14386. Epub 2023 Mar 8.
5
Human papillomavirus 42-associated digital papillary adenocarcinoma.人乳头瘤病毒42型相关的指状乳头状腺癌。
JAAD Case Rep. 2022 Nov 5;32:52-54. doi: 10.1016/j.jdcr.2022.10.038. eCollection 2023 Feb.
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Cancer Discov. 2023 Jan 9;13(1):70-84. doi: 10.1158/2159-8290.CD-22-0489.
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