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International Journal of Molecular... Jun 2024Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1-2% of OMTs; however, sebaceous carcinoma...
Ovarian mature teratomas (OMTs) originate from post-meiotic germ cells. Malignant transformation occurs in approximately 1-2% of OMTs; however, sebaceous carcinoma arising from OMTs is rare. This is the first report of a detailed genomic analysis of sebaceous carcinoma arising from an OMT. A 36-year-old woman underwent evaluation for abdominal tumors and subsequent hysterectomy and salpingo-oophorectomy. Pathologically, a diagnosis of stage IA sebaceous carcinoma arising from an OMT was established. Eight months post-surgery, the patient was alive without recurrence. Immunohistochemically, the tumor was negative for mismatch repair proteins. A nonsense mutation in (p.R306*) and a deletion in were identified. Single nucleotide polymorphisms across all chromosomes displayed a high degree of homozygosity, suggestive of uniparental disomy. Herein, the OMT resulting from the endoreduplication of oocytes underwent a malignant transformation to sebaceous carcinoma via as an early event and as a late event.
Topics: Humans; Female; Adult; Ovarian Neoplasms; Teratoma; Tumor Suppressor Protein p53; Class Ia Phosphatidylinositol 3-Kinase; Adenocarcinoma, Sebaceous; Polymorphism, Single Nucleotide; Cell Transformation, Neoplastic
PubMed: 38928057
DOI: 10.3390/ijms25126351 -
The American Journal of Dermatopathology Jun 2024A 77-year-old Japanese man presented to our hospital with subcutaneous tumors of the right upper arm and axilla. A biopsy revealed a cutaneous adnexal tumor, showing...
A 77-year-old Japanese man presented to our hospital with subcutaneous tumors of the right upper arm and axilla. A biopsy revealed a cutaneous adnexal tumor, showing apocrine differentiation, and axillary lymph node metastasis. After chemoradiotherapy to shrink the tumors, both lesions were resected. A resected specimen of the arm tumor showed a variegated histology: (1) a classic sebaceoma with an organoid pattern and sebocytes; (2) a sebaceous tumor with cellular atypia; (3) a papillotubular tumor showing a biphasic pattern of pale eosinophilic cells with apocrine differentiation and basaloid cells; and (4) an invasive adenocarcinoma with a micropapillary structure, reminiscent of an invasive micropapillary carcinoma of the breast. The axillary tumor was regressed. To our knowledge, this is the first reported case of an adnexal tumor of the skin with an invasive micropapillary structure arising in a sebaceous tumor.
PubMed: 38916242
DOI: 10.1097/DAD.0000000000002766 -
Archives of Dermatological Research Jun 2024Approximately 5-15% of all dermatologic malignancies manifest in the upper and lower eyelids. The primary types include basal cell carcinoma, squamous cell carcinoma,... (Review)
Review
Approximately 5-15% of all dermatologic malignancies manifest in the upper and lower eyelids. The primary types include basal cell carcinoma, squamous cell carcinoma, and sebaceous cell carcinoma, with Merkel cell carcinoma and melanoma following closely behind. Basal cell carcinoma predominantly affects the lower eyelid, yet various other carcinomas, melanomas, metastases, and neoplasms of diverse origins can arise on both upper and lower eyelids. Risk factors such as advanced age, smoking, and notably, exposure to UV light significantly contribute to the development of these eyelid lesions. Despite the increasing incidence, research on dermatologic eyelid malignancies remains limited. However, such study is imperative given that many systemic oncologic malignancies initially present as metastatic eyelid lesions. This paper provides an in-depth exploration of eyelid anatomy, clinical presentation, diagnosis, and treatment management.Key Points: Eyelid metastases represent less than one percent of all eyelid cancers, yet they often serve as the initial indication of an underlying systemic malignancy. Early detection and treatment is crucial in improving prognosis and quality of life for patients. Treatment options encompass a range of modalities, with Mohs surgery as the gold standard for the removal of ocular tumors. Additional treatment options include local excision as well as non-surgical interventions such as radiotherapy, cryotherapy, immunotherapy, and topical medications.
Topics: Humans; Eyelid Neoplasms; Eyelids; Mohs Surgery; Skin Neoplasms; Melanoma; Carcinoma, Merkel Cell; Risk Factors; Carcinoma, Basal Cell; Quality of Life; Carcinoma, Squamous Cell; Sebaceous Gland Neoplasms
PubMed: 38907769
DOI: 10.1007/s00403-024-03163-1 -
BMJ Open Jun 2024Sebaceous gland carcinoma (SGC) of the eyelid is an aggressive tumour with the ability to metastasise and an increased morbidity. Controversies regarding the...
INTRODUCTION
Sebaceous gland carcinoma (SGC) of the eyelid is an aggressive tumour with the ability to metastasise and an increased morbidity. Controversies regarding the epidemiology of this malignant eyelid tumour is widespread in the scientific literature. Western reports repeatedly describes eyelid SGC as a rare occurring tumour in general, accounting for 1%-3% of all eyelid tumours, however studies from Asia have uncovered a higher frequency of eyelid SGC including 54% of all eyelid tumours in Japan, and 43%-56% in India. We wish to retrieve observational data of eyelid SGC prevalence in proportion to total eyelid tumours, from pathological studies published worldwide to resolve this controversy.
METHODS AND ANALYSIS
We will search Ovid Medline, EMBASE, Cochrane Central Register of Controlled Trials, Scopus and Google Scholar to identify published reports on eyelid SGC prevalence proportions, aiming to clarify the incidence of the tumour. We will include observational clinicopathological studies reporting prevalence with confirmed histopathology. No limitations on publication date or language will be applied. Data from the individual studies and study quality will be extracted by two individual reviewers. Study quality will be assessed using the JBI Critical Appraisal Instrument for Studies Reporting Prevalence Data. Raw proportions will be transformed and pooled using a random effects model for meta-analysis. And subgroup analysis according to geography will be performed. If data are deemed unsuitable for a meta-analysis, a narrative synthesis will be presented. We will judge the certainty of evidence and present whether this has an overall effect on the results. The results may shed light on a long-standing academic disparity of the scientific literature.
ETHICS AND DISSEMINATION
This systematic review does not require ethical approval. The results of this proposed review will be the subject to a publication in an international peer-reviewed journal within the ophthalmic or pathological specialty.
PROSPERO REGISTRATION NUMBER
CRD42023487141.
Topics: Humans; Systematic Reviews as Topic; Eyelid Neoplasms; Prevalence; Sebaceous Gland Neoplasms; Meta-Analysis as Topic; Research Design; Adenocarcinoma, Sebaceous
PubMed: 38866573
DOI: 10.1136/bmjopen-2024-086213 -
International Journal of Dermatology Jun 2024Sebaceous carcinoma (SC) is a rare neoplasm affecting periocular and extraocular sites. If inadequately treated, it can recur and cause morbidity. Specific management... (Review)
Review
Sebaceous carcinoma (SC) is a rare neoplasm affecting periocular and extraocular sites. If inadequately treated, it can recur and cause morbidity. Specific management guidelines have not been established. Wide local excision (WLE) has been traditionally used; however, Mohs micrographic surgery (MMS) can be advantageous because of complete margin assessment and tissue-sparing nature. This analysis aims to systematically review the surgical modalities used for the management of SC. Articles meeting eligibility criteria were identified using MEDLINE (via PubMed), Embase, Cochrane, and Scopus databases. All studies investigating surgical management of SC with WLE or MMS were considered. Seventy studies met inclusion criteria, including retrospective cohort studies, case series, and case reports. WLE was used in 32 studies, MMS in 29, and MMS and WLE in 9. Subgroup analysis showed that MMS has lower recurrence rates. For WLE, local, regional, and distant recurrence rates were 23.4%, 13.3%, and 11.0%, respectively, and for MMS, 6.8%, 4.3%, and 4.6%, respectively. Patients treated with WLE were more likely to have local recurrence than patients treated with MMS (P = 0.001). WLE cases were more likely to have a regional (P = 0.05) and distant recurrence (P = 0.001). Limitations of the study include heterogeneity of case reports, case series, and retrospective studies, variable follow-up times between the two groups, and large tumors included in the WLE category. In addition, disease-specific survival was not evaluated. MMS cases showed a superior outcome for local, regional, and distant recurrence, making it a good option for the management of SC.
PubMed: 38856083
DOI: 10.1111/ijd.17283 -
Dermatology Online Journal Mar 2024Patients with Muir-Torre syndrome may have a systemic malignancy and a sebaceous neoplasm such as an adenoma, epithelioma, and/or carcinoma. The syndrome usually results...
Patients with a new-onset cutaneous sebaceous neoplasm following immunosuppression should be evaluated for Muir-Torre syndrome with germline mismatch repair gene mutation analysis: case reports.
Patients with Muir-Torre syndrome may have a systemic malignancy and a sebaceous neoplasm such as an adenoma, epithelioma, and/or carcinoma. The syndrome usually results from a germline mutation in one or more mismatch repair genes. Iatrogenic or acquired immunosuppression can promote the appearance of sebaceous tumors, either as an isolated event or as a feature of Muir-Torre syndrome and may unmask individuals genetically predisposed to the syndrome. Two iatrogenically immunosuppressed men with Muir-Torre syndrome features are described. Similar to these immunocompromised men, Muir-Torre syndrome-associated sebaceous neoplasms have occurred in solid organ transplant recipients, human immunodeficiency virus-infected individuals, and patients with chronic diseases who are treated with immunosuppressive agents. Muir-Torre syndrome-associated sebaceous neoplasms occur more frequently and earlier in kidney recipients, who are receiving more post-transplant immunosuppressive agents, than in liver recipients. The development of sebaceous neoplasms is decreased by replacing cyclosporine or tacrolimus with sirolimus or everolimus. Specific anti-cancer vaccines or checkpoint blockade immunotherapy may merit exploration for immune-interception of Muir-Torre syndrome-associated sebaceous neoplasms and syndrome-related visceral cancers. We suggest germline testing for genomic aberrations of mismatch repair genes should routinely be performed in all patients-both immunocompetent and immunosuppressed-who develop a Muir-Torre syndrome-associated sebaceous neoplasm.
Topics: Humans; Muir-Torre Syndrome; Male; Germ-Line Mutation; DNA Mismatch Repair; Immunosuppressive Agents; Sebaceous Gland Neoplasms; Middle Aged; MutS Homolog 2 Protein; Immunocompromised Host; MutL Protein Homolog 1; Skin Neoplasms; DNA Mutational Analysis
PubMed: 38762859
DOI: 10.5070/D330163287 -
International Journal of Surgery Case... Jun 2024Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without...
INTRODUCTION
Epidermoid cysts may occur due to anomalies during fetal development, approximately 1-2 % occur in the oral cavity. A cyst lumen filled with fluid or keratin without skin adnexal structures (such as hair, hair follicle, sweat gland, sebaceous gland) can be defined as epidermoid cyst. 7 % of these cysts occur in the head and neck, 1.6 % of which appear in the oral cavity. Gender distribution is balanced but more prevalent in males. Epidermoid cysts are the most common cutaneous cysts. These cysts are rarely discovered prior to puberty. It has been reported that 1 % of epidermoid cysts will malignantly develop into squamous cell carcinoma (SCC) or basal cell carcinoma (BCC).
CASE PRESENTATION
18-year-old male patient presented with 57.99 × 55.33 × 41.41 mm-sized epidermoid cyst treated at the Regional Hospital in Indonesia. The primary complaint was a painless, asymptomatic lump on the floor of the mouth which was felt 10 years ago. Two years prior, the lump enlarged, and the patient began to feel difficulty in swallowing, and respiratory distress appeared one year later. Supplementary examinations: ultrasonography, fine needle aspiration biopsy, plain radiography, multiple slice computed tomography scan was performed to support epidermoid cyst diagnosis.
DISCUSSION
An intraoral approach-based cystectomy with a horizontal incision was utilized for surgical treatment to avoid adjacent anatomic structure. Histopathological examination showed a macroscopic image of pouch tissue with approximately 0.2 cm-thick wall, brownish white in color with yellow mass like cheese pulp, and microscopic image of tissue covered with monomorphous complex squamous epithelium with eosinophilic keratinized mass lumen.
CONCLUSION
Following the procedure, there was no longer respiratory distress nor difficulty in swallowing and the patient recovered well with no deficiency in aesthetics.
PubMed: 38761688
DOI: 10.1016/j.ijscr.2024.109729 -
Journal Der Deutschen Dermatologischen... May 2024Sebaceous 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 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.
Topics: Sebaceous Gland Neoplasms; Humans; Muir-Torre Syndrome; Prognosis; Adenocarcinoma, Sebaceous; Dermatology; Germany; Mohs Surgery; Practice Guidelines as Topic
PubMed: 38679790
DOI: 10.1111/ddg.15405 -
Indian Journal of Ophthalmology May 2024
Topics: Female; Humans; Male; Middle Aged; Adenocarcinoma, Sebaceous; Eyelid Neoplasms; Sebaceous Gland Neoplasms; Adult
PubMed: 38648442
DOI: 10.4103/IJO.IJO_1975_23 -
Wiener Klinische Wochenschrift Apr 2024The purpose of this case report is to present misdiagnosed sebaceous gland carcinoma of the lower eyelid with rapid growth in a young woman during pregnancy. Eyelid...
The purpose of this case report is to present misdiagnosed sebaceous gland carcinoma of the lower eyelid with rapid growth in a young woman during pregnancy. Eyelid sebaceous gland carcinoma is a relatively rare tumor and a disease primarily of older patients. It occurs more commonly in oriental populations and with a predilection for the upper eyelid. Early diagnosis and appropriate treatment may help improve disease control and patient survival.
PubMed: 38634909
DOI: 10.1007/s00508-024-02349-x