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眼睑内分泌性黏液生成汗腺癌作为男性乳腺癌的首发表现

Endocrine mucin-producing sweat gland carcinoma of eyelid as a presenting feature of breast carcinoma in a male patient.

作者信息

Sehgal Tanisha, Verma Ritesh, Singh Aminder, Gupta Yesha

机构信息

Department of Ophthalmology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.

Department of Pathology, Dayanand Medical College and Hospital, Ludhiana, Punjab, India.

出版信息

Oman J Ophthalmol. 2025 Jun 24;18(2):228-231. doi: 10.4103/ojo.ojo_190_24. eCollection 2025 May-Aug.

DOI:10.4103/ojo.ojo_190_24
PMID:40666771
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12258855/
Abstract

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare indolent tumor with predilection for periocular skin of elderly women. Although recurrences may occur, metastases are uncommon with EMPSGC. We present a case of EMPSGC of the eyelid as a presenting feature of invasive carcinoma of the breast in a male patient. A 71-year-old male presented with a right eyelid mass from the past 6 months. A wide excision biopsy with intraoperative frozen section margin control and reconstruction was done. Histopathology and immunohistochemistry (IHC) were suggestive of EMPSGC. On systemic examination, the patient had a breast mass 2 cm × 3 cm × 1 cm which he did not reveal at presentation. A Trucut biopsy was performed, and the histopathology was similar to the eyelid tumor. On positron emission tomography (PET) scan, there was uptake in the breast mass, axillary and mediastinal lymph nodes, and multiple nodular lesions in the lungs were noted. The patient underwent BRCA1/2 mutation test which revealed a variance of uncertain significance. In view of hormone receptor positivity, the patient was then started on hormonal therapy and the tumor showed significant regression on serial examination and successive PET scans. We discuss the management of the eyelid lesion and compare the histopathology and IHC of the primary and metastatic tumor.

摘要

内分泌黏液生成性汗腺癌(EMPSGC)是一种罕见的惰性肿瘤,好发于老年女性的眼周皮肤。虽然EMPSGC可能会复发,但转移并不常见。我们报告一例男性患者,以眼睑EMPSGC为表现的乳腺浸润性癌。一名71岁男性,过去6个月来右眼睑出现肿物。进行了广泛切除活检,并在术中进行冰冻切片切缘控制及重建。组织病理学和免疫组织化学(IHC)提示为EMPSGC。全身检查时,患者有一个2 cm×3 cm×1 cm的乳腺肿物,他在初诊时未提及。进行了粗针活检,组织病理学与眼睑肿瘤相似。正电子发射断层扫描(PET)显示乳腺肿物、腋窝及纵隔淋巴结有摄取,肺部可见多个结节性病变。患者接受了BRCA1/2基因检测,结果显示有意义不明确的变异。鉴于激素受体阳性,患者开始接受激素治疗,经系列检查及后续PET扫描,肿瘤显著缩小。我们讨论了眼睑病变的处理,并比较了原发肿瘤和转移肿瘤的组织病理学及免疫组织化学结果。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be7/12258855/ad913a478c6b/OJO-18-228-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be7/12258855/040b1c476cce/OJO-18-228-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be7/12258855/ad913a478c6b/OJO-18-228-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be7/12258855/040b1c476cce/OJO-18-228-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4be7/12258855/ad913a478c6b/OJO-18-228-g002.jpg

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本文引用的文献

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Endocrine Mucin-Producing Sweat Gland Carcinoma: Case Presentation with a Comprehensive Review of the Literature.内分泌黏液生成性汗腺癌:病例报告及文献综述
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Renal Cell Carcinoma Antigen Expression in Primary Cutaneous Endocrine Mucinous Carcinomas: A Case Series of 14 Patients and Review of the Literature.
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