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Purpose: Intraepithelial sebaceous gland carcinoma is a rare form of sebaceous gland carcinoma, with 10 published case reports to date. The authors report the clinical, histological, and prognostic features of this rare carcinoma., Methods: This is a multicenter retrospective case series of patients from 3 Australian sites. Information collected included patient demographics, clinical risk factors, initial and subsequent presentations, histology results, management, and outcomes., Results: Twelve cases were identified. The average age of presentation was 72 years (range 52-92 years), with more females (n = 8) affected than males. The most common symptoms and signs were ocular irritation (n = 9) and eyelid mass (n = 8), with a predilection toward upper lid involvement. Five cases of sebaceous gland carcinoma were confirmed on initial histology. Initial management included wide local excision with margin control (n = 11), and primary topical mitomycin C (n = 1). Adjunctive conjunctival mapping biopsy was performed in 5 cases. Recurrence occurred in 7 cases, at an average of 31 months (range 7-83 months) after initial treatment. There were no cases of distant metastasis, however, 2 cases developed local invasion. Management of recurrences included exenteration (n = 2), further excisions alone (n = 3), and excision with adjuvant mitomycin C (n = 2)., Conclusions: Clinicians and pathologists should have a high index of suspicion for primary intraepithelial sebaceous gland carcinoma on the upper eyelid. Close follow-up is recommended, given the high risk of local recurrence., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2024 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Purpose: Sebaceous carcinoma is the third most common nonkeratinocyte skin cancer in the United States with 1,000 cases per year. The clinicopathologic features of sebaceous carcinoma and benign sebaceous neoplasms (adenomas, sebaceomas) can overlap, highlighting the need for molecular biomarkers to improve classification. This study describes the genomic and transcriptomic landscape of sebaceous neoplasms in order to understand tumor etiology and biomarkers relevant for diagnosis and treatment., Experimental Design: We performed whole-genome sequencing (WGS) and whole-transcriptome sequencing (WTS) of sebaceous neoplasms from six academic and two federal healthcare facilities in the United States diagnosed between January 1, 1999, and December 31, 2021., Results: We evaluated 98 sebaceous neoplasms: 64 tumors (32 adenomas, 2 sebaceomas, 5 atypical sebaceous neoplasms, 25 carcinomas) had sufficient material for WGS, 96 tumors (42 adenomas, 11 sebaceomas, 8 atypical sebaceous neoplasms, 35 carcinomas) had sufficient material for WTS, and 62 tumors (31 adenomas, 2 sebaceomas, 5 atypical sebaceous neoplasms, 24 carcinomas) had sufficient material for combined WGS and WTS. Overall, we found decreased cholesterol biosynthesis and increased TP53 mutations, copy number gains (chromosome 6, 8q, and/or 18), and tumor mutation burden-high (>10 mutations/MB) in carcinomas compared to adenomas. Although diminished compared to adenomas, most carcinomas still had higher cholesterol biosynthesis than nonmalignant skin. Multiomics profiling also supported a precancerous model of tumor evolution with sebaceomas and atypical sebaceous neoplasms being likely intermediate lesions., Conclusions: The study findings highlight key diagnostic biomarkers for sebaceous carcinoma and suggest that immunotherapy and modulation of cholesterol biosynthesis could be effective treatment strategies., (©2024 American Association for Cancer Research.)

Eyelid sebaceous gland carcinoma (SGC) is an aggressive skin cancer characterized by a heightened risk of recurrence and metastasis. While surgical excision is the primary treatment, unraveling the molecular intricacies of SGC is imperative for advancing targeted therapeutic interventions and enhancing patient outcomes. This comprehensive review delves into the molecular landscape of eyelid SGC, emphasizing key genetic alterations, signaling pathways, epigenetic modifications, and potential therapeutic targets. Significant findings include aberrations in critical signaling pathways (β-catenin, lymphoid enhancer binding factor, hedgehog, epidermal growth factor receptor, P53, and P21WAF1) associated with SGC progression and poor prognosis. Notably, eyelid SGC manifests a distinctive mutational profile, lacking ultraviolet signature mutations in tumor protein 53 (TP53), indicating alternative mutagenic mechanisms. Next-generation sequencing identifies actionable mutations in genes such as phosphatase and tensin homolog (PTEN) and Erb-B2 receptor tyrosine kinase 2 (ERBB2), facilitating the emergence of personalized medicine approaches. Molecular chaperones, specifically X-linked inhibitor of apoptosis protein (XIAP) and BAG3, emerge as pivotal players in promoting tumor survival and proliferation. The review underscores the role of epithelial-mesenchymal transition, where regulators like E-cadherin, vimentin, and ZEB2 contribute to SGC aggressiveness. Epigenetic modifications, encompassing DNA methylation and microRNA dysregulation, further elucidate the molecular landscape. This review consolidates a comprehensive understanding of the molecular drivers of eyelid SGC, shedding light on potential therapeutic targets and providing a foundation for future investigations in diagnostic, prognostic, and personalized treatment strategies for this formidable malignancy., (Copyright © 2024 Copyright: © 2024 Indian Journal of Ophthalmology.)

Background. Sebaceous carcinoma in situ outside the ocular region is an exceedingly uncommon. It is an intraepidermal neoplasm originating from sebaceous glands limited to the epidermis with no invasion into the underlying dermis or beyond. Although sebaceous carcinoma in situ is predominantly observed in ocular regions, particularly the eyelids, instances of its occurrence in extraocular locations are infrequent, with only a limited number of examples reported in the literature. Case Presentation. A 63-year-old man presented with a left posterior arm lesion. Microscopic examination revealed a proliferation of poorly differentiated atypical neoplastic sebocytes confined to the epidermis with pleomorphic nuclei, prominent nucleoli, and clear cell changes. The neoplastic cells demonstrated positive staining for adipophilin, androgen receptor, epithelial membrane antigen, P63, BerEP4, and keratin 7. Microsatellite instability markers showed preserved nuclear staining for MLH1, PMS2, MSH2, and MSH6. A definitive diagnosis of sebaceous carcinoma in situ was rendered. Discussion. The distinctive histopathologic characteristics typically involve the presence of atypical sebaceous cells confined within the epidermis. Atypical cells often exhibit enlarged nuclei, increased mitotic activity, and prominent nucleoli. A panel of epithelial membrane antigen, adipophilin, and androgen receptors is essential for ensuring an accurate diagnosis. Conclusion. This report underscores the importance of considering sebaceous carcinoma in situ in diagnosis in atypical locations, emphasizing the need for a comprehensive histopathologic examination and immunohistochemical staining panel. This article aims to demonstrate the rarity of sebaceous carcinoma in situ in extraocular sites to broaden our understanding of its diverse clinical presentations., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Purpose: To report the outcomes of platinum-based neoadjuvant chemotherapy (NACT) for eyelid and periocular sebaceous gland carcinoma (eSGC)., Methods: Retrospective study of 25 patients., Results: The mean age at presentation of eSGC was 59 years. The mean tumor basal diameter was 46 mm. By the 8th edition of AJCC classification, tumors belonged T2 (n = 2, 8%), T3 (n = 6, 24%), and T4 (n = 17, 68%); N1 (n = 12,48%); and M1 (n = 1, 4%). NACT with 5-fluorouracil (5-FU) and cisplatin/carboplatin was administered in 21 (84%)/4 (16%) patients, respectively. The mean number of cycles of neoadjuvant systemic chemotherapy per patient was 2 (median, 3). The mean percentage reduction of tumor basal volume after neoadjuvant chemotherapy was 65% (median, 60%). After NACT, 12 (48%) patients underwent surgical treatment, 6 (12%) patients underwent EBRT, and 4 (8%) underwent adjuvant chemotherapy. A total of 11 (44%) patients were lost to follow-up during the course of treatment, of whom 3 died from metastatic disease. In 16 patients followed up for ≥ 3 months, complete tumor control was achieved in 11 (69%) patients, local tumor control in 14 (88%), and globe salvage in 7 (44%) at a mean follow-up of 25 months (median, 7 months; range, 3 to 110 months). No tumor recurrence was seen in any case. One (4%) serious adverse event of cardiotoxicity was noted., Conclusion: Platinum-based NACT is a suitable option for eSGC with advanced tumors and locoregional metastasis. Adverse events are rare and in patients compliant with treatment, NACT-based combination therapy offers globe salvage and systemic tumor control., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Here we present the first case of sebaceous carcinoma of the middle ear. We discuss the treatment course and post treatment results after 11 years of follow up. We further summarize the available literature of sebaceous carcinoma of the temporal bone, which prior to this case was exclusively limited to the external auditory canal. Laryngoscope, 134:3769-3772, 2024., (© 2024 The American Laryngological, Rhinological and Otological Society, Inc.)

Purpose: Local recurrence predicts dismal prognosis in eyelid sebaceous carcinoma (SC). Recurrence predictors vary across studies. Accurate recurrence estimation is essential for individualized therapy in eyelid SC. This study aims to identify recurrence predictors and develop a nomogram for personalized prediction in eyelid SC., Methods: We conducted a multicenter retrospective cohort study. Chart reviews were performed in 418 consecutive patients with eyelid SC. All patients were followed up after their initial surgery. Multivariate Cox regression was used to explore the independent predictors of recurrence. A nomogram for recurrence prediction was developed and validated with bootstrap resampling. The predictive accuracy and discriminative ability were compared with the Tumor, Node, Metastasis (TNM) staging system., Results: Over a median of 60-month follow-up, 167 patients (40%) had local recurrence. The median time from diagnosis to recurrence was 14 months. The 1-year cumulative recurrence rate was 18%. Diagnostic delay (hazard ratio [HR] = 1.01, 95% confidence interval [CI] = 1.00-1.01, P = 0.001), orbital involvement (HR = 4.47, 95% CI = 3.04-6.58, P < 0.001), Ki67 (HR = 1.01, 95% CI = 1.00-1.02, P = 0.008) and initial surgery of Mohs micrographic surgery with intraoperative frozen section control (HR = 0.53, 95% CI = 0.35-0.80, P = 0.003) were independent influencing factors of recurrence. A nomogram integrating these four factors combined with pagetoid spread displayed satisfactory discriminative ability (C-index = 0.80-0.83; area under the curve [AUC] = 0.82-0.84), which compared favorably than TNM staging (all P < 0.05)., Conclusions: The recurrence rate is high in eyelid SC. Early detection and primary resection with Mohs micrographic surgery are recommended in controlling recurrence. Patients with orbital involvement, high Ki67 expression, and pagetoid spread may require adjuvant measures. This nomogram offers more accurate recurrence estimates, aiding in therapeutic decision making.

Sebaceous carcinoma is a known mimicker of benign conditions, leading to frequent delays in diagnosis and proper treatment. We present two patients with chronic cicatrizing conjunctivitis initially diagnosed as ocular mucous membrane pemphigoid (MMP) and later found to have sebaceous carcinoma. Both patients presented with unilateral conjunctivitis that failed to improve with topical and systemic therapy, eventually developing fornix foreshortening and extensive symblepharon. Case 1 was diagnosed with ocular MMP based on clinical features alone, while Case 2 was diagnosed with biopsy-negative disease. Months to years later, both patients developed lid lesions found to be sebaceous carcinoma and underwent exenteration. As diagnosis and treatment of ocular MMP without positive direct immunofluorescence testing becomes increasingly accepted, clinicians should consider sebaceous carcinoma as the initial diagnosis or as a developing phenomenon during immunosuppression in the setting of chronic inflammation. A low threshold for repeat biopsy should be maintained.

Sebaceous carcinoma of the breast is an extremely rare histological subtype of breast cancer, with fewer than 30 cases reported to date. Because of its extremely rare histological presentation, there are few case reports that highlight its cytological findings. In this case report, the cytomorphological features of a sebaceous carcinoma of the breast are described in detail. Cytomorphological analysis revealed atypical cells presenting predominantly as loose clusters. No tubular or papillary structures were evident in the clusters and no mucin production was observed. The diagnosis of sebaceous carcinoma of the breast requires prominent sebaceous differentiation of cells. In Papanicolaou-stained smears, the differentiated tumor cells were found within the yellowish clusters. When these yellowish clusters were observed at high magnification and shifted out of focus, the sebaceous differentiation of tumor cells could be recognized. This finding is an advantage of observing Papanicolaou-stained specimens. Like previous reports, some individual cells showing sebaceous differentiation were also observed. In cases where many yellowish clusters appear, close observation of the interior of the clusters can confirm the presence of sebaceous differentiation of tumor cells and serve as a diagnostic clue for the cytological diagnosis of sebaceous carcinoma of the breast., (© 2024 Wiley Periodicals LLC.)

Periocular sebaceous carcinoma (PSC) is a rare, aggressive, and potentially metastatic adnexal malignancy. Due to the ability of PSC to resemble several benign and malignant conditions, diagnosis is often delayed or mistaken. In addition, even with a known diagnosis, choosing the right treatment is still an open debate. For this reason, we decided to review the most up-to-date literature on PSC and propose a dedicated procedural protocol to help clinicians when dealing with PSC. A PubMed search was carried out using the terms "Sebaceous Carcinoma", "Adnexal Periocular Cancer", "Sebaceous Carcinoma AND eyelid", "Periocular Sebaceous Carcinoma", and "Ocular Adnexa". Pertinent studies published in English from 1997 up to December 2022 were compared to the selection criteria and if suitable, included in this review. Through the initial search, 84 articles were selected. Of these, 36 were included in the final study. Several papers explored different diagnostic and therapeutic strategies regarding PSC diagnosis and management. In light of the current literature review and the multidisciplinary experience of three clinical centers, a dedicated procedural protocol is proposed. PSC diagnosis may be achieved through accurate clinical evaluation, but it requires histopathologic confirmation, which can be challenging. Dermoscopy, in vivo reflectance confocal microscopy, and optical coherence tomography may facilitate PSC clinical examination, while immunohistochemistry stains may support histological diagnosis. Appropriate disease staging is necessary before choosing the treatment, as local disease requires radically different treatment compared to advanced disease. In addition, recent innovations in nonsurgical treatments, including radio-chemotherapy, immunotherapy, and targeted therapy, may be a viable option in the most challenging cases., (© 2024 the International Society of Dermatology.)

Sebaceous gland carcinomas are rare malignant cutaneous adnexal tumors with sebocytic differentiation. The typical predilection area is the head and neck region, where sebaceous gland carcinomas are the most common malignant adnexal tumors of the skin. According to their localization a distinction is made between periocular and extraocular sebaceous gland carcinomas. Muir-Torre syndrome (MTS) should always be ruled out if it is suspected. In terms of prognosis, sebaceous gland carcinomas are potentially aggressive tumors with a clear tendency to recur and metastasize. Only small extraocular sebaceous gland carcinomas that have been completely resected have a very good prognosis. Sebaceous gland carcinomas most frequently metastasize lymphogenously to regional or distant lymph nodes; organ metastasis occurs less frequently. Periocular sebaceous gland carcinomas have a higher metastasis rate (up to 15%) than extraocular sebaceous gland carcinomas (up to 2%). Complete micrographically controlled surgery (MCS) of the primary tumor is the therapy of first choice, regardless of periocular or extraocular localization. Adjuvant or therapeutic radiotherapy may be considered. There is currently no established standard therapy for advanced, inoperable, or metastatic sebaceous gland carcinomas. Local procedures and systemic therapies such as chemotherapy or immunotherapy can be considered. The procedure should be determined individually by an interdisciplinary tumor board. Close follow-up care is recommended for these potentially aggressive carcinomas., (© 2024 The Authors. Journal der Deutschen Dermatologischen Gesellschaft published by Wiley‐VCH GmbH on behalf of Deutsche Dermatologische Gesellschaft.)

Abstract: Cutaneous sebaceous neoplasia comprises a spectrum of disease ranging from benign adenomas to malignant carcinomas. The hallmark of these lesions is sebaceous differentiation. However, poorly-differentiated sebaceous carcinoma (SC), which lacks significant overt sebaceous differentiation, can show morphologic overlap with a variety of other basaloid cutaneous neoplasms. The accurate classification of SC is essential not only for diagnosis, but also because of the potential association with Muir-Torre syndrome. Androgen receptor (AR) is a sensitive, but not entirely specific immunohistochemical marker that has been used for the diagnosis of SC. PReferentially expressed Antigen in MElanoma (PRAME) demonstrates strong cytoplasmic labeling of mature sebocytes and has been reported to be expressed in a variety of sebaceous neoplasms, including in the basaloid cell component. Therefore, we sought to compare the diagnostic use of cytoplasmic PRAME expression with that of AR for the distinction of SC from a cohort of basaloid cutaneous mimics; namely basal cell carcinoma, basaloid squamous cell carcinoma, pilomatricoma, cutaneous lymphadenoma, and extra-mammary Paget disease. We report that cytoplasmic PRAME expression is uncommon in poorly differentiated SC, and although specific, it shows very low sensitivity (22%). In contrast, AR was moderately sensitive (66%) and highly specific (92%) for the distinction of SC from basaloid mimics. These attributes, in addition to the nuclear expression of AR in the sebocytic and basaloid components of SC, suggest that AR is superior to PRAME for the diagnosis of SC., (Copyright © 2024 Wolters Kluwer Health, Inc. All rights reserved.)

Sebaceous carcinoma (SC) is a very rare and aggressive form of skin cancer that arises from the sebaceous glands. SC can occur anywhere on the body, but most commonly affects the head and neck, especially the upper eyelid. SC is the third most common malignancy of the eyelid and has the potential to metastasize and be fatal; therefore, it is vital for dermatologists to remain acquainted with this malignancy and its most current treatment options. Most commonly presenting as a painless lump or thickening of skin on the eyelid, SC has an insidious progression that may not prompt the patient to seek medical attention immediately. To avoid the potential of metastasis, early diagnosis and treatment is paramount. To assess if the cancer has spread, ophthalmology, imaging, and sentinel lymph node biopsy are recommended. This article provides a comprehensive review of SC's pathogenesis, current diagnostic methods, and treatments, including wide local excision, Mohs micrographic surgery, orbital exenteration, radiation, and other topicals. The prognosis of SC depends on several factors, including size, location, stage, and treatment method. After treatment of the neoplasm, diligent post-treatment surveillance remains the cornerstone of patient care. Continued dermatologic follow-ups are essential for early detection of reoccurrence, ensuring timely intervention and optimal long-term outcomes. In conclusion, this comprehensive review aims to equip dermatologists and other physicians with a nuanced understanding of SC, enabling them to provide effective care to support patients encountering this malignancy., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: Eyelid sebaceous carcinoma (SeC) is the third most frequent eyelid malignancy worldwide and is relatively prevalent in Asian patients. An eyelid SeC cell line model is necessary for experimental research to explore the etiology and pathogenesis of eyelid SeC. This study established and characterized an eyelid SeC cell line with a TP53 mutation that might be useful for analyzing potential treatment options for eyelid SeC., Methods: The eyelid SeC cell line SHNPH-SeC was obtained from a patient with eyelid SeC at Shanghai Ninth People's Hospital (SHNPH), Shanghai JiaoTong University School of Medicine. Immunofluorescence staining was employed to detect the origination and proliferation activity. Short tandem repeat (STR) profiling was performed for verification. Chromosome analysis was implemented to investigate chromosome aberrations. Whole exome sequencing (WES) was used to discover genomic mutations. Cell proliferation assays were performed to identify sensitivity to mitomycin-C (MMC) and 5-fluorouracil (5-FU)., Results: SHNPH-SeC cells were successively subcultured for more than 100 passages and demonstrated rapid proliferation and migration. Karyotype analysis revealed abundant chromosome aberrations, and WES revealed SeC-related mutations in TP53, KMT2C, and ERBB2. An in vivo tumor model was successfully established in NOD/SCID mice. Biomarkers of eyelid SeC, including cytokeratin 5 (CK5), epithelial membrane antigen (EMA), adipophilin, p53, and Ki-67, were detected in SHNPH-SeC cells, original tumors, and xenografts. MMC and 5-FU inhibited the proliferation and migration of SHNPH-SeC cells, and SHNPH-SeC cells presented a greater drug response than non-TP53-mutated SeC cells., Conclusions: The newly established eyelid SeC cell line SHNPH-SeC demonstrates mutation in TP53, the most commonly mutated gene in SeC. It presents SeC properties and malignant characteristics that may facilitate the investigation of cellular behaviors and molecular mechanisms of SeC to explore promising therapeutic strategies.

Purpose: To review clinical presentations of periocular sebaceous carcinoma (SC) and introduce standardized nomenclature for multicentric and multifocal disease presentation., Methods: A comprehensive PubMed/Medline search was conducted to identify all articles reporting periocular multicentric or multifocal SC presentations. The authors also highlight an additional case of SC presenting with 2 clinically distinct tumor foci and complete secondary invasion of the lacrimal gland., Results: This review summarizes clinical presentations of periocular SC exhibiting discrete foci of microinvasion reported in the literature. Discrete microinvasion was associated with high rates of misdiagnosis (80%), simultaneous involvement of both upper and lower eyelids (80%), pagetoid spread (80%), multinodular growth (33%), local tumor spread (60%), previous eyelid manipulation (40%), and local recurrence (40%). Eyelid multifocality with clinically discrete nodules (42%) was associated with more advanced disease including orbital extension and regional invasion (80%)., Conclusions: Despite previous reported associations with poorer outcomes, there is no consensus in the definition or nomenclature for discrete microinvasive or clinical disease presentations in periocular SC. The authors recommend defining multicentric disease as discrete foci of microinvasive tumor with basement membrane disruption and multifocal disease as discrete clinically evident nodules involving both the upper and lower eyelids. Differentiating between discrete microinvasive (multicentric) and clinically nodular (multifocal) disease may improve risk stratification to most accurately identify patients who require more aggressive management and surveillance., Competing Interests: The authors have no financial or conflicts of interest to disclose., (Copyright © 2022 The American Society of Ophthalmic Plastic and Reconstructive Surgery, Inc.)

Aims: Clear cells formed due to depositions of glycogen or lipids in the cytoplasm commonly occur in various tissues. Adipophilin (ADP), a lipid regulatory protein, is closely related to lipid droplets. This study aims to examine adipophilin expression in clear cells of various skin lesions., Methods: ADP expression was examined using immunohistochemistry in 108 sections from 15 skin lesion types with clear cell histology, namely, sebaceoma (n=16), sebaceous adenoma (n=3), sebaceous carcinoma (n=12), xanthomata cutis (n=10), xanthogranuloma (n=8), Paget's disease (n=10), Bowen disease (n=10), hidradenoma (n=9), atypical lipoma (n=5), superficial lipomatous nevus (n=5), metastatic renal cell carcinoma (n=5), squamous cell carcinoma (n=4), seborrheic keratosis (n=4), dermatofibroma (n=4) and clear cell sarcoma (n=3)., Results: ADP was not expressed in Bowen disease, hidradenoma or seborrheic keratosis. Four expression patterns, foamy, reticular, granular and punctate, were summarised based on their expression in clear cells. Different expression patterns were related to tissue origin and differentiation degree. Foamy expression was commonly observed in lesions with mature sebaceous glands and xanthomas; reticular expression in adipocytes; granular expression in xanthoma, xanthogranuloma and metastatic renal carcinoma and punctate expression in sebaceoma, sebaceous carcinoma, Paget's disease, squamous cell carcinoma and clear cell sarcoma. Furthermore, stronger staining with focal vesicular labelling was noted in sebaceoma than in sebaceous carcinoma. Characteristic labelling was noted, including the circular distribution in Touton giant cells of xanthogranulomas and focal distribution in the clear cells along the edge of necrotic tissue in clear cell sarcoma., Conclusions: ADP is useful in identifying intracytoplasmic lipids and can be used to diagnose skin lesions with clear cell histology, especially in some lesions with characteristic labelling., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.)

Background: Collision tumors are rare clinical entities that two heterogeneous neoplasms are concurrently adjacent to each other at the same location. The association of a squamous cell carcinoma and a malignant adnexal tumor is even infrequent., Case Presentation: The case of a 79-year-old woman having a slow-growing and painless tumor on the left lower eyelid was presented. The lesion, about 15 mm in diameter, was nodular, irregular, and yellow-discolored. Histopathologic and immunohistochemical findings disclosed concurrence of sebaceous carcinoma as well as squamous cell carcinoma in one specimen. Wide excision of the tumor with frozen section control and eyelid reconstruction were performed. Oncologic survey revealed no other lesion. At 6-month follow-up, no evidence of recurrence or metastasis was presented., Conclusion: Collision tumor composed of sebaceous carcinoma and squamous cell carcinoma in eyelid may be the first case described in the literature. For increasing accuracy of diagnosis and management, a thorough clinical examination and detailed histopathologic analysis, along with multidisciplinary discussion, are prerequisites.

Background: Sebaceous carcinoma is an aggressive malignant tumour. To prevent mutilating surgery and improve patient outcomes, early diagnosis and prompt treatment are necessary. When the tumour invades surrounding tissues, treatment may become complex., Methods: We present a case report illustrating complex resection and reconstruction of a sebaceous carcinoma after initial misdiagnosis., Results: A 74-year-old man with a sebaceous carcinoma to his right upper eyelid had a delay in treatment due to initial misdiagnosis. Upon the correct diagnosis, computed tomography scan showed tumour invasion of the medial rectus muscle and tumour spread to the right parotid gland. An orbital exenteration, partial parotidectomy and selective cervical lymphadenectomy were performed. Frozen section examination showed false-free margins, as additional paraffin embedded sections showed uncomplete tumour resection. Adjuvant radiotherapy was offered to the patient. The treatment was complicated by radio necrosis, necessitating surgical reconstruction by a paramedian forehead flap. Final reconstruction of the right orbit was accomplished by a personalised epithesis., Conclusions: Sebaceous carcinoma is a tumour that is often misdiagnosed. The aim of this case report is to emphasize the possible consequences of its misdiagnosis. An overview of characteristic clinical findings is provided to help reduce the number of misdiagnoses.

Purpose: To evaluate the effect of direct cell injury of cryotherapy on eyelid sebaceous gland carcinoma cells by an ex vivo cryotherapy experiment., Methods: It was a prospective interventional case series. Six patients with biopsy-proven nodular sebaceous gland carcinoma were included. After excision of the mass, a thin slice of the mass resembling the thickness of the conjunctiva was shaved off and was oriented over the broad end of a tissue forceps. Cryotherapy was applied to both its anterior and posterior aspects by the triple freeze-thaw technique. The mass was then labeled and sent separately for histopathological evaluation by fixation and staining., Results: A total of six patients with a mean age of 58.2 ± 15.5 years were included. There were four females and two males. The mean duration of the lesion was 21.6 ± 17.51 months. All patients had involvement of the upper eyelid. The patients were clinically staged as T2b (n=2), T1a (n=2), T2c (n=1), and T3a (n=1) respectively. There was no regional lymphadenopathy or metastasis in any of the cases. The experimental cryo-tissue containing the cryo-treated lesion revealed the presence of viable tumor cells (>50%) in all six specimens., Conclusion: The direct cell injury caused by cryotherapy may not be sufficient to kill all the residual sebaceous gland carcinoma cells on the tumor bed., Competing Interests: None

Competing Interests: The authors have no financial or conflicts of interest to disclose.

Introduction: Sebaceous carcinoma is a rare malignant tumor of the sebaceous glands. Sebaceous carcinoma occurs mainly in the head and neck region, rarely in trunk.  Case report: We present a case report of 63-year-old patient, operated on for sebaceous carcinoma in the right breast area. The patient underwent radical surgery, removal of the tumor with the skin, subcutaneous tissue, and the large pectoral muscle. The patient is in good clinical condition eight months after the surgery. She is being constantly monitored and so far, there are neither signs of local recurrence nor tumor progression.  Conclusion: Patients with rare tumors should be treated comprehensively with subsequent lifelong dispensarisation in specialized centers. Multidisciplinary medical teams are able to eruditely diagnose, recognize, treat and dispense patients.

Epithelial-myoepithelial carcinoma (EMCA) is a rare low-grade carcinoma of the salivary glands with multiple morphological variants. One such variant, sebaceous EMCA (SEMCA), has been reported in the literature. Distinguishing it from other tumors such as sebaceous carcinoma is crucial, as SEMCA typically behaves more indolently. We present a case of a SEMCA in the right parotid of a 71-year-old man that shows features of aggressive behavior such as facial nerve invasion and extraparenchymal extension. Also, we report evidence of preexisting pleomorphic adenoma within this tumor.

Background: Ocular adnexal (OA) sebaceous carcinoma is an aggressive malignancy. Oncologic drivers of ocular sebaceous carcinoma are incompletely understood., Methods: A retrospective search of our pathology archives for OA sebaceous carcinoma identified 18 primary resection specimens. Immunohistochemistry for p16 and ZEB1 and RNA in situ hybridization for high-risk human papillomavirus (HPV) subtypes were performed., Results: High-risk HPV was demonstrated in 2/11 (18%) cases. p16 overexpression was observed in 10/11 (91%). No association between gender, age at presentation, tumor location, intraepithelial spread, tumor size, and T stage was observed between HPV-driven and nonviral cases. High expression of ZEB1 was observed in the intraepithelial component of 4/14 (28%) cases and in the subepithelial component of 1/13 (7%) cases. ZEB1 overexpression was not associated with HPV status, T stage, or tumor size., Conclusion: As previously described by others, our findings suggest that a subset of OA sebaceous carcinomas may arise via an HPV-dependent pathway. However, unlike high-risk HPV-driven carcinomas of the oropharynx, we did not identify an association between HPV-status and prognostic features. Furthermore, p16 expression was not a useful surrogate marker for HPV-driven disease. ZEB1 overexpression is not associated with HPV in our cohort of ocular sebaceous carcinoma., (© 2021 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Muir-Torre syndrome is a hereditary condition characterized by occurrence of sebaceous neoplasms or keratoacanthomas and visceral tumors. The most common mechanism for this syndrome is a constitutional defect in the mismatch repair genes. We report the case of a 67-year-old woman with a mutator L homologue 1 (MLH1) mutation. She had a history of endometrial and colorectal cancers. The patient presented with a typical keratoacanthoma on the right cheek and numerous sebaceous neoplasms on the face and trunk. Seven sebaceous adenomas and a low-grade sebaceous carcinoma were excised. Most sebaceous adenomas showed dermoscopic features such as some yellow comedo-like globules and curved vessels in creamy-white areas. Moreover, they revealed pathological features such as keratoacanthoma-like architecture and peritumoral or intratumoral lymphocytes. One of these sebaceous adenomas indicated histopathologically spontaneous regression and another was continuous with the hair follicle. Immunohistochemical staining for mismatch repair proteins revealed loss of expression for MLH1 and postmeiotic segregation increased 2 (PMS2) proteins in tumor cells nuclei in both keratoacanthoma and sebaceous adenoma. Nuclei in overhanging epithelial lips of the keratoacanthoma were also negative. These findings suggest that the type of Muir-Torre syndrome-related cutaneous tumor may have been affected by mismatch repair protein deficient sites in the pilosebaceous unit., (© 2021 Japanese Dermatological Association.)

Purpose: To evaluate the clinical features, diagnostic challenges, management, and prognosis of sebaceous carcinoma (SC) of the eyelids and periocular region in a Nordic country., Methods: Patients were identified from the Finnish Cancer Registry and the Helsinki University Hospital databases during the 21-year period 1998-2018. Age, sex, location, clinical and histopathologic diagnosis, treatment and outcome were registered., Results: Sebaceous carcinoma (SC) was diagnosed in 32 patients. The incidence was 0.6 per million. Median age at the time of histopathologic diagnosis was 74 years, and 72% of patients were women. Diagnostic delay was often long, median 12 months. The most common cause for delay was misdiagnosis (72%): a chalazion in 34% and a benign tumour in 22%. The most common location was the upper eyelid (53%) and tumour type a solitary nodule (94%). The SC was not correctly diagnosed in 12 (40%) of 30 preoperative biopsies. The treatment for 31 (97%) patients was complete surgical removal with reconstruction. Conjunctival intraepithelial growth was found in 50%. The leading postoperative problem was ocular irritation (30%). During a median follow-up of 58 months, two patients (6%) experienced a local recurrence and one patient died from metastatic SC., Conclusions: The estimated incidence of SC in Finland was somewhat higher than in other Western countries. The diagnosis was often markedly delayed. Especially differentiation from chalazion continues to be essential. To improve outcomes, it is essential to inform the pathologist about the possibility of SC in eyelid biopsies and specimens and ideally submit them to an ophthalmic pathology service., (© 2020 Acta Ophthalmologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.)

Ocular sebaceous carcinoma is an uncommon, aggressive tumor arising from the Meibomian gland, Zeis gland, or sebaceous glands in the caruncle or eyelashes. We described a rare case of sebaceous carcinoma in situ in a 51-year-old female that was characterized by intraepithelial growth of sebaceous carcinoma cells with no invasive carcinoma in the underlying sebaceous glands. Early stromal invasion was identified that featured 2 distinctive but focally intermixed populations of sebaceous carcinoma cells and squamous carcinoma cells. The 2 populations of cells exhibited their respective distinct immunophenotype but both showed strong overexpression of p53. This case provides evidence to support the hypothesis that some ocular sebaceous carcinoma may arise from intraepithelial pluripotent stem cells.

Context: Eyelid carcinoma is rare tumors of the head and neck. They are rarely lethal but can be associated with significant morbidity if not treated early and appropriately. There are limited data available from world over and in particular the Indian subcontinent regarding eyelid carcinoma and its prognostic factors influencing treatment outcomes. Setting and Design:Retrospective study of patients treated in a tertiary cancer center between 2005 and 2016., Methodology: In this study, 51 patients with eyelid carcinoma treated at single tertiary cancer center were included. The demographic, clinical data, which includes the treatment received, histopathology report and follow-up, were recorded. All the relevant variables influencing disease-free survival (DFS) were analyzed., Results: Sebaceous carcinoma was the most common eyelid carcinoma followed by squamous cell carcinoma and basal cell carcinoma in descending order in this series. Lower eyelid was involved most often. The incidence of nodal metastasis was low (14%). Multivariate analysis revealed that margin status influenced the DFS (P= 0.001) (hazard ratios = 15.9 [95% confidence interval: 1.8-135.2]). The 5 years' DFS was 70%., Conclusion: Eyelid tumors are less common cancer with good prognosis if treated appropriately. The morbidity associated with treatment can be reduced if treated early., Competing Interests: None

Sebaceous carcinoma (SC) is the third most common eyelid malignancy in Australia, and is potentially fatal. It usually presents as a nodule or diffuse eyelid thickening, and is commonly misdiagnosed. We describe a case of SC with lacrimal sac involvement, presenting with clinical features of nasolacrimal duct obstruction. At the time of endoscopic dacryocystorhinostomy (DCR), nasal endoscopy revealed a polypoid mass of the opened lacrimal sac. Biopsy of the mass showed poorly differentiated SC. The lacrimal drainage apparatus was later excised via a combined external and endoscopic approach. Conjunctival map biopsies showed extensive intraepithelial disease, which was treated with topical mitomycin C. At three-month follow-up, there was no evidence of residual disease on nasal endoscopy or repeat conjunctival biopsy.

Sebaceous carcinoma is a rare cutaneous malignancy that frequently mimics other dermatologic conditions. Extraocular subtypes are uncommon, but when present are frequently located in the head and neck region. Herein, we present a patient with a rapidly growing upper back mass eventually diagnosed as sebaceous carcinoma and managed with wide surgical excision. Currently, sparse literature exists to guide management of such patients. This case highlights not only the diagnostic challenges of sebaceous carcinoma, but also the need for further studies to investigate therapeutic interventions and long-term outcomes.

The periocular region sees high rates of cancer compared to the rest of the body and can be affected by several unique tumors. Treatment typically involves surgical excision, although adjunctive therapies and prognosis vary depending on the diagnosis. Basal cell carcinoma (BCC) is the most common malignancy affecting this region and should be excised promptly. This is followed by squamous cell carcinoma, which is often mistaken for BCC but is treated similarly. Melanoma is less common but more deadly, with relatively high rates of metastasis and death. Rare tumors that may be found in this region include sebaceous carcinoma, Merkel cell carcinoma, and microcystic adnexal carcinoma. While uncommon, these tumors are associated with poor outcomes and frequent recurrence. Recognition of periocular skin cancer is an important skill for primary care physicians, as prompt diagnosis and treatment can be sight or life-saving., (Copyright © 2020. Published by Elsevier Inc.)

Purpose: The aim of this study was to clarify the demographics, clinical features, and outcomes of Japanese patients with sebaceous carcinoma of the eyelid or conjunctiva., Study Design: Retrospective study., Methods: One hundred twenty-five patients with sebaceous carcinoma of the eyelid or conjunctiva diagnosed at Tokyo Medical University Hospital between 1994 and 2017 were reviewed. The outcomes of the 116 patients who were treated and followed for at least 24 months at our hospital were investigated., Results: The patients reviewed comprised 52 men and 74 women. The average age at diagnosis was 70.6 ± 13.8 (range 31-96) years. The main lesion was located in the upper eyelid in 51% of the patients; in the lower eyelid in 38% of the patients; and in other regions in 11% of the patients. Treatments included surgical resection with or without eyelid reconstruction in 108 cases (93%), orbital exenteration in 5 cases (4%), and radiation therapy in 3 cases (3%). Local recurrence was detected in 11 cases (9%). Metastasis to the regional lymph nodes was confirmed in 10 cases (9%). Four patients (3%) died because of direct intracranial invasion of the tumor. Risk of local recurrence and metastasis was significantly related to larger tumor size., Conclusion: Proper diagnosis and treatment at the optimal timing is critical to improve the outcome of sebaceous carcinoma of the eyelid or conjunctiva. Long-term follow-up is required because local recurrence and metastasis may occur several years after treatment.

Background: Vimentin is an intermediate-sized filament which is highly expressed in mesenchymal cells and is associated with epithelial-mesenchymal transition (EMT). EMT markers ZEB2 and Slug lead to Vimentin overexpression and E-cadherin loss, resulting in invasion and metastasis. However, the status of Vimentin remains unexplored in eyelid sebaceous gland carcinoma (SGC). The study aims to determine status of Vimentin in SGC and its association with EMT markers E-cadherin, ZEB2 and Slug., Methods: Vimentin protein expression was undertaken in 66 cases with SGC by immunohistochemistry (IHC). Messenger RNA (mRNA) expression was determined in 42 fresh tissues by quantitative real-time PCR. Association of Vimentin with E-cadherin, ZEB2 and Slug was also analysed. Patients were followed up for 17-69 months (mean 34.02 ± 14.73 months)., Results: IHC revealed Vimentin overexpression in 37/66 (56%) cases. This overexpression showed significant association with lymph node metastasis (p=0.004) and pagetoid spread (p=0.05). Patients with high Vimentin expression also had poor disease-free survival (p=0.033). Univariate Cox regression model indicated that high Vimentin expression (p=0.043) and advanced tumour stage (p=0.002) were independent adverse prognostic factors. High Vimentin mRNA expression was seen in 16/42 (38%) cases and correlated significantly with lymph node metastasis (p=0.027), advanced tumour stage (p=0.002) and large tumour size (p=0.023). Vimentin expression overall showed a significant inverse association with E-cadherin and direct association with ZEB2 expression., Conclusions: Vimentin overexpression in SGC is associated with EMT and leads to poor clinical outcome. It also emerged as a novel predictor for lymph node metastasis and poor survival., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Our aim was to investigate sebaceous differentiation in thymus tumours and to identify new actionable genomic alterations. To this end we screened 35 normal and 23 hyperplastic thymuses, 127 thymomas and 41 thymic carcinomas for the presence of sebaceous differentiation as defined by morphology and expression of adipophilin and androgen receptor (AR). One primary thymic carcinoma showed morphology of sebaceous carcinomas (keratinizing and foam cells, calcifications, giant cells), a strong expression of adipophilin and AR together with squamous markers. NGS revealed high-level amplification of fibroblast growth factor receptor 2 (FGFR2). In thymuses and thymomas, no cells with sebaceous morphology were present. Occasionally, macrophages or epithelial cells showed adipophilin-positivity, however, without co-expression of AR. Thymic sebaceous carcinoma should be considered if a thymic carcinoma shows clear or foamy features. Testing for FGFR2 amplification might be warranted when searching for actionable genomic alterations in sebaceous carcinomas in the mediastinum and in other locations.

Sebaceous carcinoma in situ (SCIS) is a rare intraepidermal neoplasia, mostly occurring on the eyelid and the face. Despite abundant literature on invasive sebaceous carcinoma, there are relatively few articles about SCIS. We report the case of 78-year-old woman suffering from SCIS of the left cheek, presenting as an erythematous skin lesion. The histological examination revealed intraepidermal and intraadnexal population of atypical cells with foamy cytoplasm and with immunohistochemical adipophilin-, cytokeratin-7- and EMA-positivity in the tumor cells.