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Clinics in Dermatology Jan 2024Adnexal neoplasms of the eyelid encompass a wide variety of benign and malignant tumors of sebaceous, follicular, and sweat gland origin. Due to the specialized...
Adnexal neoplasms of the eyelid encompass a wide variety of benign and malignant tumors of sebaceous, follicular, and sweat gland origin. Due to the specialized structures of the eyelid, these neoplasms present differently when compared with those of other locations. Although most dermatologists and ophthalmologists are familiar with the commonly reported adnexal tumors of the eyelid, such as hidrocystoma, pilomatrixoma, and sebaceous carcinoma, many other adnexal neoplasms have been reported at this unique anatomic site. Accurate and timely identification of these neoplasms is essential, as alterations of eyelid anatomy and function can have a negative impact on eye health, vision, and quality of life. We review the clinical and histopathologic features of common and rare eyelid adnexal neoplasms and discuss proposed treatment options.
PubMed: 38281687
DOI: 10.1016/j.clindermatol.2024.01.004 -
Archives of Dermatological Research Jan 2020Sebaceous carcinoma (SC) is a potentially aggressive malignancy of periocular or extraocular skin. It arises sporadically or is associated with Muir-Torre syndrome... (Review)
Review
Sebaceous carcinoma (SC) is a potentially aggressive malignancy of periocular or extraocular skin. It arises sporadically or is associated with Muir-Torre syndrome (MTS). Here, we review three controversial clinical conundra related to the diagnosis and treatment of SC and offer evidence-based recommendations. First, following a diagnosis of SC, deciding which patients to screen for MTS can be challenging. The Mayo MTS Risk Score is a clinical score that incorporates the key cutaneous findings in MTS but relies heavily on personal and family history that may not be available at the time of SC diagnosis, especially in young patients. Young patients, who have extraocular SC and are suspected to have MTS though do not meet criteria by Mayo MTS Risk Score, should have their tumors tested using immunohistochemistry for mismatch repair proteins. Second, sentinel lymph node biopsy (SLNB) is used in periocular SC to evaluate nodal disease. Patient selection is critical for SLNB. Periocular SC stage ≥ T2c (by American Joint Commission on Cancer, 8th edition) may be considered for SLNB given positivity rates over fifteen percent in expert hands. Lastly, treatment of metastatic SC is an area of active investigation. When possible, tumor profiling may be used to select targeted agents. Future research into these three key questions is needed.
Topics: Adenocarcinoma, Sebaceous; Head and Neck Neoplasms; Humans; Sentinel Lymph Node Biopsy
PubMed: 31471636
DOI: 10.1007/s00403-019-01971-4 -
Orbit (Amsterdam, Netherlands) Dec 2023Primary sebaceous carcinoma of the lacrimal gland (PSCLG) is the rarest lacrimal gland (LG) tumor, often belatedly diagnosed, worsening the prognosis. We present a...
Primary sebaceous carcinoma of the lacrimal gland (PSCLG) is the rarest lacrimal gland (LG) tumor, often belatedly diagnosed, worsening the prognosis. We present a 68-year-old man with a large, indurated mass in the left orbital outer quadrant, visible at the conjunctival upper temporal fornix, extending to the lower fornix, with left gaze restriction. The lesion was not related to the eyelid or other periocular tissues. Excisional biopsy revealed the PSCLG diagnosis. There are only eight others previous PSCLGs. Males are the most affected. Indurated mass in the lacrimal fossa, with eyelid in "S" shape is the most common presentation. Image exams are suggestive, but histological and immunohistochemical evaluations showing a single tumor cell line within LG are mandatory for definitive diagnosis. Larger and more extensive lesions can have a poor prognosis, but early detection can favor the outcome.
PubMed: 38100406
DOI: 10.1080/01676830.2023.2291059 -
Ophthalmic Plastic and Reconstructive...To assess the relationship between age at presentation and outcomes of patients with periocular sebaceous gland carcinoma.
PURPOSE
To assess the relationship between age at presentation and outcomes of patients with periocular sebaceous gland carcinoma.
METHODS
Retrospective case series of 241 patients.
RESULTS
Of 241 cases, 29 (12%) were young adults (≤40 years), 122 (51%) were middle-aged adults (41-60 years), and 90 (37%) were older adults (>60 years). Based on the eighth edition of American Joint Committee on Cancer, most tumors belonged to T1 category (n = 78, 32%) on presentation. Wide excisional biopsy was the most common treatment modality (n = 183, 79%). There were no statistically significant differences in the clinical presentation, treatment approaches, and histopathology features amongst different age groups, except pagetoid spread which was higher in middle-aged adults (61%, p = 0.004). The incidence of tumor recurrence was higher in older age group compared to younger age groups, with 5-year, 10-year Kaplan-Meier estimate at 31%, 31% in young adults, 38%, 38% in middle-aged adults, and 45%, 100% in older adults (p = 0.03), respectively. The 10-year Kaplan-Meier estimate rate of locoregional lymph node metastasis, systemic metastasis, and death was higher in young adults (51%, 48%, and 48%, respectively) compared to middle-aged (30%, 17%, and 12%, respectively) and older adults (24%, 25%, and 27%, respectively), but the differences were not statistically significant.
CONCLUSIONS
There is no difference in the clinical presentation of periocular sebaceous gland carcinoma based on age. However, the tumor recurrence rate is much higher in the older age group and death higher in younger patients despite the same treatment strategies in all age groups.
Topics: Adenocarcinoma, Sebaceous; Aged; Eyelid Neoplasms; Humans; Middle Aged; Neoplasm Recurrence, Local; Retrospective Studies; Sebaceous Gland Neoplasms; Sebaceous Glands; Young Adult
PubMed: 33237664
DOI: 10.1097/IOP.0000000000001863 -
International Ophthalmology Feb 2020To investigate the overexpression of genes in sebaceous gland carcinoma (SGC) of the eyelid compared to sebaceous adenoma of the eyelid in order to elucidate the...
PURPOSE
To investigate the overexpression of genes in sebaceous gland carcinoma (SGC) of the eyelid compared to sebaceous adenoma of the eyelid in order to elucidate the molecular mechanism underlying pathogenesis.
METHODS
We performed histopathological examination of eyelid tissues surgically removed from four patients diagnosed with SGC (cases 1-3) and sebaceous adenoma (case 4) of the eyelid. Next, we performed global gene expression analysis of surgical tissue samples using a GeneChip system and the Ingenuity Pathways Knowledge Base. The results of the GeneChip analysis were explored with quantitative real-time polymerase chain reaction (qRT-PCR) analysis.
RESULTS
In the SGC samples, we found that 211, 199, and 199 genes, respectively, showed ≥ 2.0-fold higher expression than those in the sebaceous adenoma sample (case 4); 194 genes were common to all three SGC samples. For the 194 genes with upregulated expression, functional category analysis showed that SGC of the eyelid employed a unique gene network, including cyclin-dependent kinase inhibitor 2A (CDKN2A), cyclin-dependent kinase 1 (CDK1), and cyclin E1 (CCNE1), which are related to cell cycle progression, incidence of tumor, and cell viability. Furthermore, qRT-PCR analysis showed that the expression levels of CDKN2A, CDK1, and CCNE1 were significantly upregulated in all SGC cases compared to those in the sebaceous adenoma case. These data were similar to the results of microarray analysis.
CONCLUSION
Overexpression of cell cycle-related genes CDKN2A, CDK1, CCNE1, and their gene network may help elucidate the pathogenic pathway of SGC of the eyelid at the molecular level.
Topics: Adenocarcinoma, Sebaceous; Aged; Aged, 80 and over; Biomarkers, Tumor; CDC2 Protein Kinase; Cyclin E; Cyclin-Dependent Kinase Inhibitor p16; Eyelid Neoplasms; Female; Gene Expression Regulation, Neoplastic; Humans; Immunohistochemistry; Male; Oncogene Proteins; RNA, Neoplasm; Sebaceous Gland Neoplasms; Sebaceous Glands
PubMed: 31571090
DOI: 10.1007/s10792-019-01185-7 -
Virchows Archiv : An International... Sep 2021TERT promoter (TERTp) mutations widely occur in multiple human neoplasms, and they have been related to different clinicopathological features. To date, this mutation...
TERT promoter (TERTp) mutations widely occur in multiple human neoplasms, and they have been related to different clinicopathological features. To date, this mutation has not been identified in sebaceous tumors. Here, we analyzed TERTp mutations in 91 sebaceous neoplasms (17 adenomas, 45 sebaceomas, and 29 carcinomas). We detected mutations in 26.7% (8 of 29) of sebaceous carcinomas by pyrosequencing and Sanger sequencing. No mutation was detected in adenomas or sebaceomas. The difference was significant between sebaceoma and carcinoma. The most frequent TERTp mutations were C228T and C250T in 37.5% (3 of 8) of mutated cases each one. The mutation was not associated with poor clinical evolution. Using NGS, 20 of 29 (68.5%) sebaceous carcinomas harbored mutations in 8 of the 30 genes analyzed (TP53, TERTp, EGFR, ATRX, PDGFRA, CDKN2A, PTEN, and ACVR1). With immunohistochemistry, only 1 of 8 (12.5%) TERTp-mutated carcinomas lacked mismatch repair (MMR) protein expression compared to 6 of 21 (31.6%) of non-mutated ones. Sebaceous carcinomas with MMR protein expression had significantly higher frequency of total mutations and TP53 and TERTp mutations than MMR protein-deficient carcinomas. In conclusion, TERTp mutation has been detected in sebaceous carcinomas, and its presence could be useful to differentiate sebaceous carcinoma from sebaceoma, a difficult histopathological challenge.
Topics: Adenoma; Aged; Aged, 80 and over; Biomarkers, Tumor; Carcinoma; DNA Mismatch Repair; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; High-Throughput Nucleotide Sequencing; Humans; Immunohistochemistry; Male; Middle Aged; Mutation; Phenotype; Promoter Regions, Genetic; Sebaceous Gland Neoplasms; Telomerase; Tumor Suppressor Protein p53
PubMed: 33768319
DOI: 10.1007/s00428-021-03083-9 -
Ophthalmic Plastic and Reconstructive...To review clinical presentations of periocular sebaceous carcinoma (SC) and introduce standardized nomenclature for multicentric and multifocal disease presentation. (Review)
Review
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.
Topics: Humans; Sebaceous Gland Neoplasms; Eyelid Neoplasms; Adenocarcinoma, Sebaceous; Eyelids
PubMed: 36356187
DOI: 10.1097/IOP.0000000000002281 -
Journal of the American Academy of... Dec 2023Sebaceous carcinomas (SC) may be associated with the cancer predisposition syndrome Muir-Torre/Lynch syndrome (MTS/LS), identifiable by SC mismatch repair (MMR)...
BACKGROUND
Sebaceous carcinomas (SC) may be associated with the cancer predisposition syndrome Muir-Torre/Lynch syndrome (MTS/LS), identifiable by SC mismatch repair (MMR) screening; however, there is limited data on MMR status of SC.
OBJECTIVE
To describe the epidemiology of SC, copresentation of other cancers, and population level frequency of MMR screening in SC.
METHODS
A population-based retrospective cohort study of SC patients in the National Cancer Registration and Analysis Service in England.
RESULTS
This study included 1077 SC cases (739 extraocular, 338 periocular). Age-standardized incidence rates (ASIR) were higher in men compared with women, 2.74 (95% CI, 2.52-9.69) per 1,000,000 person-years for men versus 1.47 person-years (95% CI, 1.4-1.62) for women. Of the patients, 19% (210/1077) developed at least one MTS/LS-associated malignancy. MMR immunohistochemical screening was performed in only 20% (220/1077) of SC tumors; of these, 32% (70/219) of tumors were MMR deficient.
LIMITATIONS
Retrospective design.
CONCLUSIONS
Incorporation of MMR screening into clinical practice guidelines for the management of SC will increase the opportunity for MTS/LS diagnoses, with implications for cancer surveillance, chemoprevention with aspirin, and immunotherapy treatment targeted to MTS/LS cancers.
Topics: Male; Humans; Female; Muir-Torre Syndrome; Retrospective Studies; Adenocarcinoma, Sebaceous; Sebaceous Gland Neoplasms; Colorectal Neoplasms; Neoplasms, Adnexal and Skin Appendage; Carcinoma, Basal Cell
PubMed: 37031776
DOI: 10.1016/j.jaad.2023.03.046 -
Cureus Dec 2022A 56-year-old male with a past medical history of arachnoid cysts and with two previous brain operations and a ventriculoperitoneal shunt presented with a large left...
A 56-year-old male with a past medical history of arachnoid cysts and with two previous brain operations and a ventriculoperitoneal shunt presented with a large left lower quadrant (LLQ) abdominal mass for one year, growing rapidly for the past three months. He endorsed pus and blood leaking from ulceration on the lateral underside of the mass, and a section of the mass ruptured with blood and pus draining out on the day of admission. He denied any fevers, chills, pain, or numbness in the mass or any history of similar masses. Of note, the patient has an extensive familial history of cancer including colorectal cancer in his mother in her 30s. Computed tomography and biopsy of mass were concerning for malignancy, reporting a neoplasm in the dermis that grows in round and irregular lobules of cells along with the majority of the cells having oval nuclei with areas of sebaceous differentiation. Pathology showed sebaceous carcinoma with concern for Muir-Torre syndrome. The patient was discharged and instructed to follow up with oncology and gastroenterology.
PubMed: 36733789
DOI: 10.7759/cureus.33103 -
Clinical Cancer Research : An Official... Jan 2021Sebaceous carcinoma is an aggressive skin cancer with a 5-year overall survival rate of 78% for localized/regional disease and 50% for metastatic disease. The incidence... (Review)
Review
Sebaceous carcinoma is an aggressive skin cancer with a 5-year overall survival rate of 78% for localized/regional disease and 50% for metastatic disease. The incidence of this cancer has been increasing in the United States for several decades, but the underlying reasons for this increase are unclear. In this article, we review the epidemiology and genetics of sebaceous carcinoma, including recent population data and tumor genomic analyses that provide new insights into underlying tumor biology. We further discuss emerging evidence of a possible viral etiology for this cancer. Finally, we review the clinical implications of recent advances in sebaceous carcinoma research for screening, prevention, and treatment.
Topics: Early Detection of Cancer; Genomics; Humans; Incidence; Microsatellite Instability; Risk Factors; SEER Program; Sebaceous Gland Neoplasms; Skin Neoplasms; United States
PubMed: 32907843
DOI: 10.1158/1078-0432.CCR-20-2473