Endocrine mucin-producing sweat gland carcinoma mimicking meibomian gland carcinoma

Sumeet T Lahane; Rohan A Sawant; Pragati Agarwal; Varun K Doshi; Ragini H Parekh; Tatyarao P Lahane

doi:10.4103/ijo.IJO_1299_21

CASE REPORT

Year : 2022 | Volume : 2 | Issue : 2 | Page : 345-347

Endocrine mucin-producing sweat gland carcinoma mimicking meibomian gland carcinoma

Sumeet T Lahane, Rohan A Sawant, Pragati Agarwal, Varun K Doshi, Ragini H Parekh, Tatyarao P Lahane
Department of Ophthalmology, Sir J. J Hospital and Grant Government Medical College, Mumbai, Maharashtra, India

Date of Submission	18-May-2021
Date of Acceptance	21-Sep-2021
Date of Web Publication	13-Apr-2022

Correspondence Address:
Sumeet T Lahane
Sir J. J Hospital and Grant Government Medical College, Mohd. Ali Road, Byculla, Mumbai - 400 008, Maharashtra
India

Source of Support: None, Conflict of Interest: None

DOI: 10.4103/ijo.IJO_1299_21

Abstract

Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a rare adnexal tumor of the skin with immunoexpression and neuroendocrine differentiation. It can be easily misdiagnosed as a meibomian gland tumor due to its prevalence in the Indian subcontinent over EMPSGC. It has a predilection for the skin of the eyelid and elderly females. It is histologically and immunohistochemically analogous to solid papillary carcinoma of the breast/endocrine ductal carcinoma in situ with a nodular, solid, papillary, and/or cribriform architecture, neuroendocrine differentiation, and mucin production. We describe a case of EMPSGC clinically mimicking meibomian gland carcinoma which was confirmed on immunohistochemistry and histopathological diagnosis.

Keywords: Endocrine mucin-producing sweat gland carcinoma, eyelid, meibomian gland tumor, tumor

How to cite this article:
Lahane ST, Sawant RA, Agarwal P, Doshi VK, Parekh RH, Lahane TP. Endocrine mucin-producing sweat gland carcinoma mimicking meibomian gland carcinoma. Indian J Ophthalmol Case Rep 2022;2:345-7

How to cite this URL:
Lahane ST, Sawant RA, Agarwal P, Doshi VK, Parekh RH, Lahane TP. Endocrine mucin-producing sweat gland carcinoma mimicking meibomian gland carcinoma. Indian J Ophthalmol Case Rep [serial online] 2022 [cited 2022 May 26];2:345-7. Available from: https://www.ijoreports.in/text.asp?2022/2/2/345/342876

Sweat gland neoplasms are very intriguing and notorious tumors, especially in terms of accurate diagnosis. Endocrine mucin-producing sweat gland carcinoma (EMPSGC) is a common salivary gland tumor that rarely presents in the eyelid glands.^[1] It commonly affects elderly females of a specific age group ranging between 60 and 80 years of age.^[2] Histologically (HPE) and immunohistochemically (IHC), there is a considerable resemblance between EMPSGC and solid papillary carcinoma of the breast.^[3] Additionally, both tumors are frequently associated with invasive mucinous carcinoma. On this basis, it has been postulated that both these tumors are precursors of cutaneous mucinous carcinoma.^[1],[4]

Case Report

A forty-nine-year-old female patient presented with swelling of the right eye (RE) upper eyelid associated with pain, inability to the open eye, and the recent onset of bleeding from the lesion. She had best-corrected visual acuity (BCVA) of counting fingers 3 meters in the right eye (RE) and 6/9 in the left eye (LE). There was a large, irregular, solid mass involving the complete eyelid horizontally and up to the tarsal plate in vertical extent. The loss of eyelashes, occlusion of Meibomian gland ^{More Details} orifices, thickening of eyelid margin with severe congestion, and irregularity were noted on the upper tarsal conjunctiva on minimum possible lid eversion [Figure 1]a and [Figure 1]b. the Anterior and posterior segments examination of both eyes was unremarkable. No enlargement of the preauricular, submandibular and anterior cervical nodes was noted.

Figure 1: Clinical presentation of endocrine mucin-producing sweat gland carcinoma (EMPSGC) (a) Irregular mass involving the RE upper eyelid tarsal plate (b) Loss of cilia of the eyelid (c) Post-eyelid sparing exenteration

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Computed tomography revealed an isodense irregular ill-defined mass lesion extending from the RE preseptal region to the anterior orbit. the confirmation of neoplastic etiology was done with incision biopsy from the eyelid which showed sweat gland carcinoma. She underwent eyelid sparing exenteration with an intraoperative frozen section for margin control [Figure 1]c. The postoperative course was uneventful.

The HPE showed a nodular and multilobulated tumor with solid areas and cystic spaces. Solid part with cribriform architecture punctuated by mucin-filled cystic was spaces seen. The tumor cells were arranged in a cribriform pattern focally [Figure 2]a. Moderately differentiated squamous cell carcinoma and dysplastic stratified squamous cells with the tumor invading the sub-epithelium were seen [Figure 2]b. the IHC showed a positive stain for Pan-cytokeratin CK 7, carcinoembryogenic antigen, and a negative stain for the androgen receptors [Figure 2]c and [Figure 2]d. Neuroendocrine markers like chromogranin and synaptophysin were focally positive. A diagnosis of EMPSGC of the eyelid was made. As per the oncologist's opinion, no adjuvant treatment was given. There was no evidence of local or lymph node recurrence in the 2-year follow-up.

Figure 2: (a) Histopathological slide showing 'Cribriform' pattern with solid cystic spaces filled with mucin, (b) Stratified squamous cells with characteristic apical decapitation, (c) Immunohistochemistry slides cytokeratin 7 positive, (d) Carcinoembryogenic antigen positive

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Discussion

A wide variety of benign and malignant tumors with hair, sweat, or sebaceous gland origin occur in the eyelid.^[4] There has been widespread research in easing the uphill task of accurately diagnosing sweat gland tumors lately due to their rare occurrence and ambiguous nature. These tumors not only are inconspicuous clinically but also on HPE and can be missed by clinicians and pathologists. Sweat gland tumors may be broadly classified as eccrine or apocrine. The gland of Moll is a modified apocrine gland. EMPSGC is a rare, lowgrade, cutaneous adnexal carcinoma that can be differentiated by neuroendocrine markers and is considered a precursor lesion of mucinous carcinoma of the skin.^[5] There is a morphological analogy to endocrine ductal neoplasms and solid papillary breast carcinoma.^[6] Owing to the common embryological origin of the sweat glands, breast, and salivary glands; the tumors developing from these sites exhibit similar morphological features. The IHC profile of strong positivity for estrogen/progesterone receptors and cytokeratin 7 along with the histological resemblance to breast carcinoma makes it crucial to rule out the possibility of cutaneous metastases in all the cases of EMPSGC.^[7] Our patient did not have any breast lesions similar to those reported cases in the literature.^[2],[6] Flieder reported the first case in 1997 followed by a series of 12 cases by Zembowicz et al.^[8] describing in detail the predilection of EMPSGC for elderly females and lower eyelids with a good prognosis. This is the only case of EMPSGC reported in the literature with orbital involvement emphasizing the infiltrative nature of the tumor and managed by radical surgery of exenteration.

On HPE, they are circumscribed, multinodular having cystic and solid components. Papillary and cribriform patterns are the two most commonly found patterns. Variable immunoreactivity for at least one neuroendocrine marker is consistent in these tumors. The tumor cells express CK 5/6, CK7, CK8, CK18, CAM5.2, and epithelial membrane antigen (EMA) and are negative for CK20.^[9] Therefore, physical and radiological examinations should be considered in EMPSGC.

Clinically EMPSGC can mimic many tumors of the eyelid like meibomian gland carcinoma, eccrine adenocarcinoma, primary signet ring cell carcinoma, adnexal tumors, and sclerosing sweat duct carcinoma also called malignant syringoma.^[10] In addition, clinically, in our region of western India, we have sebaceous gland carcinoma as a far more common type of eyelid tumor which presents with lid margin thickening, loss of eyelashes, and blockage of meibomian gland orifices, which on the contrary in most of the other tumors mentioned are absent or seen at a very advanced stage. We would also like to stress upon the fact here that in advanced lesions, histopathology is the only evidence to differentiate these tumors. The HPE diagnostic characteristics EMPSGC of the eyelid are adapted from those of the salivary gland EMPSGC.^[8]

Histologically, the sebaceous tumors show growth in the acini, nests, cords, or a diffuse pattern with varying degrees of differentiation; pleomorphic nuclei with clear, foamy, or vesicular cytoplasm with high lipid content are characteristic.^[11] However, except for some discrepancies, we did not find any typical features mentioned above in our patients. From the above features, we see no similarities in both the tumors concerning HPE findings. Our patient did not show any signs of breast involvement ruling out the metastatic nature of primary papillary breast cancer. Mohs' micrographic surgery and surgical excision with margin clearance are reported effective methods to treat neoplastic eyelid lesions but extensive infiltrative mass as described here can still be successfully excised with exenteration.^[8] In our case, a complete eyelid sparing orbital exenteration was done with a clear margin confirmed on the frozen section [Figure 1]c. Though the reported median time of recurrence is 24 months in the literature, our patient was disease-free for 30 months post-surgery.^[12] As Zembowicz et al.^[2] have mentioned, in most cases, EMPSGC is best regarded as an invasive malignant tumor and should be treated aggressively for a better prognosis.

Conclusion

EMPSGC is a rare but invasive tumor and can produce diagnostic dilemmas both to clinicians and pathologists. Clinical suspicion, complete excision with clear margins, and IHC with appropriate markers and systemic evaluation are keystones in its management. Although an uncommon entity, EMPSGC should be seen as a differential when suspecting a potentially malignant eyelid mass.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Acknowledgments

Dr. Sheetal Munde.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

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