-
Skin Research and Technology : Official... Jan 2024
Topics: Humans; Adenocarcinoma, Sebaceous; Eyelid Neoplasms; Eyelids; Sebaceous Gland Neoplasms; Retrospective Studies
PubMed: 38174828
DOI: 10.1111/srt.13555 -
Archives of Dermatological Research Dec 2023Sebaceous 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... (Review)
Review
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.
Topics: Humans; Adenocarcinoma, Sebaceous; Sebaceous Gland Neoplasms; Prognosis; Sentinel Lymph Node Biopsy; Mohs Surgery
PubMed: 38112896
DOI: 10.1007/s00403-023-02747-7 -
BMJ Case Reports Dec 2023A man presents a 4 mm skin tumour at his general practitioner. The tumour is removed on the suspicion of a dermatofibroma. Important differential diagnoses are sebaceous...
A man presents a 4 mm skin tumour at his general practitioner. The tumour is removed on the suspicion of a dermatofibroma. Important differential diagnoses are sebaceous neoplasms, melanomas, Merkel cell carcinomas and large cell neuroendocrine carcinoma, and metastases of neuroendocrine neoplasms from the gut or lung. Immunohistochemical staining excluded sebaceous neoplasm, melanoma and Merkel cell carcinoma, however, was positive for multiple neuroendocrine markers. Relevant scans showed no signs of a primary tumour anywhere else. The final diagnosis was a primary low-grade neuroendocrine carcinoma of the skin. At 30 months follow-up, there was no sign of recurrence.
Topics: Male; Humans; Immunohistochemistry; Biomarkers, Tumor; Carcinoma, Neuroendocrine; Carcinoma, Merkel Cell; Skin Neoplasms; Melanoma; Sebaceous Gland Neoplasms
PubMed: 38110346
DOI: 10.1136/bcr-2023-257569 -
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 -
Investigative Ophthalmology & Visual... Dec 2023Eyelid 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...
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.
Topics: Animals; Mice; Humans; Tumor Suppressor Protein p53; Biomarkers, Tumor; Mice, SCID; Mice, Inbred NOD; China; Adenocarcinoma, Sebaceous; Carcinoma; Chromosome Aberrations; Cell Line, Tumor; Eyelids; Eyelid Neoplasms; Skin Neoplasms; Sebaceous Gland Neoplasms; Fluorouracil
PubMed: 38095907
DOI: 10.1167/iovs.64.15.16 -
Journal of the European Academy of... May 2024Sebaceous carcinoma (SC) is a rare skin cancer with significant associated morbidity and mortality. A known association exists between immunosuppression, in particular...
Multiple myeloma, haematologic malignancy and immunosuppressant and immunomodulatory medications are associated with sebaceous carcinoma, a pharmacovigilance study of the FDA adverse event reporting system.
BACKGROUND
Sebaceous carcinoma (SC) is a rare skin cancer with significant associated morbidity and mortality. A known association exists between immunosuppression, in particular solid organ transplant patients (SOTR), and SC. However, the comparative reporting odds ratios (ROR) of different immunosuppressive medications and SC are incompletely defined.
OBJECTIVES
To examine the relationship between SC and medication exposure in the FDA adverse event reporting system (FAERS).
METHODS
Case-control analyses were performed in FAERS from 1968 to 2021 to examine the reporting odds ratios (ROR) for SC.
RESULTS
A total of 58 medication-associated SC cases were identified. Immunosuppressant medication exposure was noted in 81% cases, with 20% total cases occurring in SOTR. Medications affecting the TNF- α -IL-1-IL-2-IL-6 inflammatory axis were associated with elevated ROR for SC, including thalidomide (ROR 22.63, 95% CI 5.52-92.72), lenalidomide (ROR 10.86, 95% CI 4.93-23.94), cyclosporine, tacrolimus, tocilizumab, tofacitinib and ruxolitinib. Thirty per cent of cases of SC occurred with an associated haematologic malignancy or dyscrasia, including chronic lymphocytic leukaemia, non-Hodgkin lymphoma and multiple myeloma.
CONCLUSIONS
SC is associated with exposure to immunosuppressive medications, especially in SOTR patients. A significant portion of cases with SC had an associated haematology malignancy, in particular multiple myeloma with exposure to lenalidomide.
Topics: Humans; United States; Multiple Myeloma; Male; Female; Adverse Drug Reaction Reporting Systems; Middle Aged; Immunosuppressive Agents; Aged; United States Food and Drug Administration; Pharmacovigilance; Case-Control Studies; Hematologic Neoplasms; Sebaceous Gland Neoplasms; Immunologic Factors; Thalidomide; Adult; Lenalidomide; Pyrazoles; Pyrimidines; Tacrolimus; Aged, 80 and over; Nitriles
PubMed: 38071595
DOI: 10.1111/jdv.19703 -
Oral Oncology Jan 2024Intraoral sebaceous carcinoma (SC) is exceedingly rare, especially in the tongue. We reported the clinicopathological and immunohistochemical features of a rare SC case... (Review)
Review
Intraoral sebaceous carcinoma (SC) is exceedingly rare, especially in the tongue. We reported the clinicopathological and immunohistochemical features of a rare SC case in a 59-year-old male who presented a painful ulcer on the tongue's posterior region. Microscopically, the tumor was composed of atypical basaloid cells with round to oval nuclei and prominent nucleoli arranged in lobes showing prominent sebaceous differentiation and areas of holocrine secretion. Immunohistochemistry showed positivity for pan-cytokeratin AE1/AE3 and epithelial membrane antigen (EMA) and negativity for cytokeratin 7 (CK7). The sebaceous cells were positive for adipophilin and perforin. Wide surgical excision followed by adjuvant chemotherapy and radiotherapy was performed. Careful histopathological analysis of these lesions is crucial to ensure a correct diagnosis. Due to the aggressive behavior of SCs, early diagnosis and treatment are essential to increase the patient's survival time. To the best of our knowledge, this is the second case of SC in the tongue.
Topics: Male; Humans; Middle Aged; Biomarkers, Tumor; Adenocarcinoma, Sebaceous; Immunohistochemistry; Sebaceous Gland Neoplasms; Tongue
PubMed: 38006687
DOI: 10.1016/j.oraloncology.2023.106647 -
Genes Nov 2023Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven...
Personalized medicine aims to develop tailored treatments for individual patients based on specific mutations present in the affected organ. This approach has proven paramount in cancer treatment, as each tumor carries distinct driver mutations that respond to targeted drugs and, in some cases, may confer resistance to other therapies. Particularly for rare conditions, personalized medicine has the potential to revolutionize treatment strategies. Rare cancers often lack extensive datasets of molecular and pathological information, large-scale trials for novel therapies, and established treatment guidelines. Consequently, surgery is frequently the only viable option for many rare tumors, when feasible, as traditional multimodal approaches employed for more common cancers often play a limited role. Sebaceous carcinoma of the eyelid is an exceptionally rare cancer affecting the eye's adnexal tissues, most frequently reported in Asia, but whose prevalence is significantly increasing even in Europe and the US. The sole established curative treatment is surgical excision, which can lead to significant disfigurement. In cases of metastatic sebaceous carcinoma, validated drug options are currently lacking. In this project, we set out to characterize the mutational landscape of two sebaceous carcinomas of the eyelid following surgical excision. Utilizing available bioinformatics tools, we demonstrated our ability to identify common features promptly and accurately in both tumors. These features included a Base-Excision Repair mutational signature, a notably high tumor mutational burden, and key driver mutations in somatic tissues. These findings had not been previously reported in similar studies. This report underscores how, in the case of rare tumors, it is possible to comprehensively characterize the mutational landscape of each individual case, potentially opening doors to targeted therapeutic options.
Topics: Humans; Sebaceous Gland Neoplasms; Adenocarcinoma, Sebaceous; Eyelids; Carcinoma, Basal Cell; Skin Neoplasms; DNA Repair
PubMed: 38002998
DOI: 10.3390/genes14112055 -
Dermatologic Surgery : Official... Dec 2023Sebaceous carcinoma (SC) is a rare, potentially recurrent, and life-threatening cutaneous malignancy that can be associated with Muir-Torre syndrome (MTS), a DNA...
BACKGROUND
Sebaceous carcinoma (SC) is a rare, potentially recurrent, and life-threatening cutaneous malignancy that can be associated with Muir-Torre syndrome (MTS), a DNA mismatch repair-driven genodermatosis. Earlier studies examining factors associated with recurrence have focused on periocular tumors only.
OBJECTIVE
Examine outcomes of SC and identify factors associated with recurrence.
MATERIALS AND METHODS
Retrospective study from 2 tertiary care centers.
RESULTS
Sixty-seven cases from 63 patients were identified, including 7 cases of MTS and 13 arising in the context of immunosuppression. Fifty-five cases (82.1%) were treated with complete circumferential peripheral and deep margin assessment (CCPDMA) methods. Five recurrences developed during the postoperative period. On univariate analysis, periocular location (odds ratio [OR] 7.6, p = .0410), and lesion size ≥2 cm (OR 9.6, p = .005) were associated with recurrence, whereas CCPDMA (OR 0.052, p = .0006) was inversely associated with recurrence. On multivariate analysis, only lesion size ≥2 cm (OR 9.6, p = .0233) and CCPDMA approaches (OR 0.052, p = .007) were significant.
CONCLUSION
Non-complete circumferential peripheral and deep margin assessment methods and large lesion size were independent risk factors predicting recurrence, whereas anatomic subtype and MTS status were not. These findings can assist in identifying SC cases that may benefit from more aggressive treatment and closer surveillance.
Topics: Humans; Retrospective Studies; Cohort Studies; Adenocarcinoma, Sebaceous; Muir-Torre Syndrome; Sebaceous Gland Neoplasms
PubMed: 37962979
DOI: 10.1097/DSS.0000000000004016 -
IEEE Transactions on Medical Imaging Mar 2024Semantic segmentation of basal cell carcinoma (BCC) from full-field optical coherence tomography (FF-OCT) images of human skin has received considerable attention in...
Semantic segmentation of basal cell carcinoma (BCC) from full-field optical coherence tomography (FF-OCT) images of human skin has received considerable attention in medical imaging. However, it is challenging for dermatopathologists to annotate the training data due to OCT's lack of color specificity. Very often, they are uncertain about the correctness of the annotations they made. In practice, annotations fraught with uncertainty profoundly impact the effectiveness of model training and hence the performance of BCC segmentation. To address this issue, we propose an approach to model training with uncertain annotations. The proposed approach includes a data selection strategy to mitigate the uncertainty of training data, a class expansion to consider sebaceous gland and hair follicle as additional classes to enhance the performance of BCC segmentation, and a self-supervised pre-training procedure to improve the initial weights of the segmentation model parameters. Furthermore, we develop three post-processing techniques to reduce the impact of speckle noise and image discontinuities on BCC segmentation. The mean Dice score of BCC of our model reaches 0.503±0.003, which, to the best of our knowledge, is the best performance to date for semantic segmentation of BCC from FF-OCT images.
Topics: Humans; Skin Neoplasms; Semantics; Uncertainty; Tomography, Optical Coherence; Carcinoma, Basal Cell; Image Processing, Computer-Assisted
PubMed: 37874706
DOI: 10.1109/TMI.2023.3327257