Sebaceous Neoplasms Research Articles

Metachronous cutaneous squamous cell carcinoma in a young patient as the only presenting symptom to uncover Lynch syndrome with MLH1 Germline mutation

BackgroundCutaneous malignancies are rare complications of Lynch syndrome and can include Muir-Torre and Turcot syndromes that are associated with sebaceous gland tumors and keratoacanthomas. The incidence and clinical course of cutaneous squamous cell carcinoma have not been well documented in Lynch syndrome due to its rarity.Case presentationA 49-year male presented with an enlarging groin skin lesion that was biopsed and demonstrated cutaneous squamous cell carcinoma for which he underwent a surgical resection. The patient experienced later a recurrence of cutaneous squamous cell carcinoma around the resected margins. Next generation sequencing of tumor tissue revealed mutations in MSH6 and MLH1, in addition to high microsatellite instability. The patient underwent pembrolizumab treatment with complete resolution of the cutaneous lesion in the groin, but subsequently developed a new mass in the right antecubital fossa shortly after discontinuation of pembrolizumab. Repeat biopsy of the antecubital fossa lesion revealed a recurrence of cutaneous squamous cell carcinoma. Germline mutation testing revealed MLH1 mutation, compatible with Lynch syndrome, and the patient restarted pembrolizumab which was associated with a complete response. The patient was referred for genetic counseling and cancer screening.ConclusionsCutaneous squamous cell carcinoma, although rare, can be the initial presenting symptom in patients with Lynch syndrome. This association has been described in patients with germline mutations in MLH1. Lynch syndrome should be considered when evaluating young patients presenting with recurrent cutaneous squamous cell carcinoma with positive family history of malignancy and/ or without any identifiable risk factors for skin cancers, including those with a durable and rapid response to immunotherapy.

Role of p53 and ki-67 in sebaceous neoplasms

Role of p53 and ki-67 in sebaceous neoplasms

Masquerading case of a lumpy bumpy face

Masquerading case of a lumpy bumpy face

Twenty-Eight Cases of Extraocular Sebaceous Carcinoma: A Correlative Clinicopathological and Immunohistochemical Analysis of Extraocular Sebaceous Carcinomas and Benign Sebaceous Gland Tumors.

Extraocular sebaceous carcinoma (ESC) is a rare appendiceal skin tumor. In contrast to ocular sebaceous carcinoma, information about the exact cellular architecture of these lesions is scarce and the histogenesis of ESC is unknown. Here, we extend our previous study and investigate 28 extraocular carcinomas in comparison to 54 benign sebaceous tumors and 8 cases of normal sebaceous glands using a broad spectrum of antibodies against p63, several keratins, adipophilin, EMA, Ki67, androgen receptor, and mismatch repair proteins. This observational study demonstrates that p63- and K5/14-positive basaloid cells are key cells in normal sebaceous gland and in all sebaceous tumors and that these basaloid cells give rise to EMA+, adipophilin+ sebocytes, and K5/14+, K7±, K10± ductal structures. Finally, about half of ESC is associated with superficial in situ neoplasia, which provides evidence that at least part of these carcinomas arises from flat superficial in situ carcinoma. In contrast to the normal sebaceous gland, about half of all sebaceous tumors lack keratin K7. MMR protein IHC-profiles role will be discussed.

Dermoscopic features and differential diagnosis of sebaceous carcinoma.

Sebaceous carcinoma is a rare malignant skin neoplasm arising from sebaceous glands. Its clinical diagnosis is difficult and reports of dermoscopic findings have been limited. This study aims to analyze its dermoscopic features and differential diagnosis in dermoscopic examination. The study included patients diagnosed with histologically proven sebaceous carcinomas as well as diagnosed cases of sebaceous hyperplasia, sebaceoma, squamous cell carcinoma and basal cell carcinoma for comparison of dermoscopic findings. The dermoscopic criterion of presence of sebaceous carcinoma was scored only if the two evaluators reached a consensus. Fifteen cases of histologically diagnosed sebaceous carcinoma were included in our study. All cases were extraocular sebaceous carcinoma. A total of 60 (15 basal cell carcinomas, 15 squamous cell carcinomas, 15 sebaceous hyperplasias and 15 sebaceomas) cases were collected for comparing dermoscopic features with sebaceous carcinoma. In dermoscopic analysis of sebaceous carcinoma, the majority of tumors (66.67%) presented polymorphic vessel pattern. Other features included whitish-pink areas (80%), yellowish structures (73.33%) and yellowish structureless areas (60%). Yellowish structures in sebaceous carcinomas are the main dermoscopic findings to differentiate squamous cell and basal cell carcinomas (P<0.001), whereas purplish globules, shiny white blotches and strands and whitish-pink area distinguish sebaceous carcinomas from other sebaceous tumors (P<0.05).

PENATALAKSANAAN PEMERIKSAAN CT-SCAN ORBITA MENGGUNAKAN BAHAN KONTRAS DENGAN KLINIS CA SEBASEA

Background: Orbita CT allows visualization of abnormalities that are not easily seen with konvensional radiography. As a comparison, tomogram are reconstructed by a computer and rotated as anatomical pieces on a monitor. Carcinoma transmits sebaceous is a tumor originating from a malignant sebaceous tumor. This carcinoma usually comes from meibom circles.Research Objectives: To find out the procedure of OrbitaCT-Scan examination using contrast material with clinical Ca Sebaceain Radiology Installation Dr. H. Abdul Moeloek Lampung Province&#x0D; Methods: This study is descriptive qualitative with an observational approach&#x0D; Results: After observation of the obtained results that the examination of CT-Scan Orbita using contrast material is done with special preparations, using pre-contrast and post-contrast axial slice which were then reconstructed into coronal and sagittal slice according to doctor and clinical needs.&#x0D; Conclusions: The results of the picture show suggestive soft tissue tumor maligna in the lateral aspect of the palpebrae sinistra size of 1.9 cm x 3.3 cm x 2.2 cm which appears attached to the lateral aspect of the bulb oculis sinistra.

Update on the pathology, genetics and somatic landscape of sebaceous tumours.

Cutaneous sebaceous neoplasms show a predilection for the head and neck area of adults and include tumours with benign behaviour, sebaceous adenoma and sebaceoma, and sebaceous carcinoma with potential for an aggressive disease course at the malignant end of the spectrum. The majority of tumours are solitary and sporadic, but a subset of tumours may be associated with Lynch syndrome, also known as hereditary non-polyposis colon cancer (HNPCC) and previously referred to as Muir-Torre syndrome (now known to be part of Lynch syndrome). This review provides an overview of the clinical and histological features of cutaneous sebaceous neoplasia with an emphasis on differentiating features and differential diagnosis. It also offers insights into the recently described molecular pathways involved in the development of sebaceous tumours and their association with Lynch syndrome.

Detection of DNA mismatch repair deficient crypts in random colonoscopic biopsies identifies Lynch syndrome patients.

The hallmark of Lynch syndrome (LS)-associated neoplasia is DNA mismatch repair protein (MMR) deficiency. Recent studies have demonstrated that histologically normal colonic crypts in patients with LS can exhibit deficient MMR expression. The aim of this study was to determine the feasibility of detecting MMR deficient crypts in random colonoscopic biopsies of normal mucosa in patients with and without LS. Forty-nine patients, including 33 with LS, 12 without LS, and 4 with germline MMR gene variants of uncertain significance (VUS), were prospectively and blindly evaluated by immunohistochemistry for MMR deficient crypts within random normal-appearing mucosal biopsies obtained during surveillance colonoscopy. MMR deficient crypts were identified in 70% (23/33) of patients with LS and in no patients without LS (0/12) (p < 0.001). MMR deficient crypts were identified with nearly equal frequency in both LS patients with and without a cancer history and were associated with germline variants in all four MMR genes and EPCAM. MMR deficient crypts were also identified in LS patients with a history of non-colorectal cancer types, including patients with endometrial cancer, skin sebaceous neoplasms, and renal cancer. Two of the four patients with germline MMR gene VUS had MMR deficient crypts. In conclusion, MMR deficient crypts are a specific biomarker of LS and can be identified in random normal mucosal biopsies in LS patients. Evaluation for MMR deficient crypts in colonoscopic biopsies of normal mucosa can help identify LS patients.

Sebaceous neoplasms: Just the thin end of the wedge.

The presence of sebaceous neoplasm should alert physicians to thoroughly investigate for underlying malignancies. Awareness on MTS should be raised within physicians, since this may be just the thin end of the wedge.

Histopathological study of canine sebaceous tumors and their association with PCNA expression by immunohistochemistry

Sebaceous tumors are common in dogs and include benign and malignant lesions. The increase in immunohistochemical evaluation of sebaceous tumors aggregates information regarding the origin and degree of malignancy of the lesions. The objective of this study was to evaluate PCNA immunohistochemical expression of sebaceous tumors in dogs. Sixty-one samples include normal skin and sebaceous tumors were selected from dogs of various breeds and ages, no gender predilection, sent to the Veterinary Pathology Service of Universidade Federal Fluminense, Niteroi/RJ, Brazil. Samples passed through histological processing, routine staining and immunostaining from PCNA. Descriptive statistical analysis, Wilcoxon-Mann-Whitney and Fisher’s exact test were performed. The mean age of the affected animals was 10.56 years. There was no sexual predilection. Breeds more frequently affected were: Poodles, mixed-breed dogs and Cocker Spaniels. Most of the tumors were neoplasms (67.27%), and 75.67% of those were benign. Sebaceous adenoma was the most frequent neoplasm (56.75%). PCNA immunoexpression was present in hyperplasia, benign and malignant tumors. No previous studies were found using PCNA antibody in sebaceous tumors of dogs. Thus, more studies are needed to provide greater clarity regarding the role of these markers on normal skin and sebaceous tumors of dogs, as well as their use as prognostic factors of malignant sebaceous tumors, assisting in diagnosis and therapeutic orientation.

Successful Surgical Management of Sebaceous Gland Tumours in Dogs

Tumors of the skin and subcutaneous tissues are most common in Veterinary practice and account for approximately one-third of all the tumors in dogs (Chikweto et al., 2011). Sebaceous hyperplasia is a most common tumor of the sebaceous gland that occurs in the old age, anywhere on the body as wart-like or cauliflower-like and can become ulcerated because of trauma, while sebaceous epithelioma occurs primarily on the head as a solitary lesion but generalized cases have been reported. The treatment of choice is surgical excision (Max’s House, 2005). This paper presents case studies of sebaceous gland tumors in two dogs.

Cryotherapy to treat benign skin tumours in conscious dogs.

Cryotherapy can be used to treat benign skin lesions without general anaesthesia. This technique has only been described in anaesthetized dogs. To describe the feasibility, safety and efficacy of cryotherapy to treat benign skin tumours in conscious dogs. Twenty-five client-owned dogs with 52 skin tumours diagnosed as benign sebaceous neoplasia (46) or follicular cysts (six). Cryotherapy was performed in conscious dogs using a liquid nitrogen spray technique with a handheld spray-release system. If needed, cryotherapy was repeated every three to four weeks until complete cure was achieved or for a maximum of eight treatments. Effectiveness and adverse effects were recorded. Resolution was obtained for 29 of 52 lesions (57%) with a median number of one to two cryotherapy sessions. Eighteen of 52 (35%) lesions shrank to <0.1cm. In one case, the tumour enlarged after cryotherapy, and histopathological examination of the excisional biopsy revealed an apocrine gland carcinoma. Pain and discomfort during the treatment were the most common adverse effects (33%). In the present study, cryotherapy was possible in conscious dogs and proved to be effective to cure or reduce the size of benign sebaceous tumours and follicular cysts. The procedure is safe but the degree of pain during the treatment needs to be further investigated. Worsening of the lesion after cryotherapy suggests the need for surgical removal and histopathological examination.

Cytologic Grading of Cutaneous Sebaceous Neoplasms: Does it Help to Differentiate Benign From Malignant?

Both architectural and cytologic characteristics are used to distinguish benign from malignant sebaceous neoplasms; however, specific cytopathologic features of sebocytes have not been well defined. The authors assessed architectural and cytological features of 63 sebaceous neoplasms [15 sebaceous hyperplasias, 12 sebaceomas, 16 sebaceous adenomas (SA), 14 sebaceous carcinomas (SC), and 6 ocular sebaceous carcinoma (OSC)] to investigate whether cytological grading may facilitate classification of lesions. Among other criteria, nuclear pleomorphism (size, nucleolar appearance, membrane irregularity, crowding, mitoses, and chromatin pattern) was assessed and 3 theoretical nuclear grades established. Immunohistochemistry for CK10, p16, adipophilin and ki67 was performed on 7 cases of each type of tumor. Most sebaceous neoplasms, except OSC, showed a bland architectural silhouette. However, SA, SC, and OSC revealed larger nuclei (≥14 μm in ≥50% of cases), evident to multiple nucleoli, membrane irregularity, coarse to clumped chromatin, and nuclear grade ≥2 (latter in ≥56% of cases); by contrast, sebaceous hyperplasia and sebaceomas showed smaller nuclei (≤10 μm in ≥50% of cases), smooth borders, inconspicuous nucleoli, fine chromatin, and grade 1 nuclei (latter in 100% of cases). In the setting of a well-circumscribed architecture, cytologic features gain importance in the classification of sebaceous neoplasms. Interestingly, cytologic similarities found in SA and SC may indicate a close relationship of both neoplasms.

1651 Colon, Urothelial and Sebaceous Malignancy All in One: A Rare Presentation of Muir-Torre Syndrome

INTRODUCTION: Muir-Torre syndrome (MTS) is a rare autosomal-dominant condition and phenotypic variant of Lynch syndrome caused by mutations in DNA mismatch repair genes MSH2, MSH6, and MLH1. Clinical diagnostic criteria include the presence of at least one sebaceous gland neoplasm and one visceral malignancy, often colonic or genitourinary. Compared to Lynch syndrome, the prevalence of MTS is likely underreported. We present a unique case of a patient with incidental findings of multiple visceral malignancies associated with skin cancer. CASE DESCRIPTION/METHODS: A 57-year-old Caucasian man presented for surveillance colonoscopy. His family history was significant for father with colon cancer at age 50, lung, and renal cancer. The patient was diagnosed with sebaceous adenocarcinoma, invasive squamous cell, and basal cell carcinomas requiring excisional surgery at age 46. Screening colonoscopy at that time was normal, with repeat after 7 years noting diminutive sigmoid tubular adenomas that were resected. Current colonoscopy revealed 14 colon polyps, multiple with high grade dysplasia, and an invasive sigmoid adenocarcinoma. Staging CT A/P was negative for metastatic disease. CEA was normal. The patient opted for left hemicolectomy instead of total proctocolectomy. Tumor pathology revealed moderately differentiated adenocarcinoma with negative margins (pT4N0M0). Colon cancer genetic testing showed lack of expression of MSH2/MSH6 and germline MSH2 mutation, confirming the diagnosis of MTS. A month later he developed hematuria and acute kidney injury that culminated in a new diagnosis of invasive high-grade urothelial carcinoma. Neoadjuvant chemotherapy was started with plan for cystectomy. DISCUSSION: MTS is a rare condition that warrants early recognition, regular follow-up and observation for new malignancies. Our case highlights the importance of awareness and the need for early, universal screening in high-risk individuals. MTS patients should undergo screening colonoscopy at ages 20–25 with surveillance every year thereafter to offer mortality benefit. If colon cancer is diagnosed, total rather than partial colectomy is preferred due to a high metachronous cancer rate of 25%. Patients and relatives should be counseled on increased risk of future malignancies. Reconstruction of family history may allow for the identification and selection of patients in whom to proceed with clinical, molecular, and immunohistochemical analysis. Clinicians must therefore be cognizant of this disease and its enduring effects.

Cytologic Features of Sebaceous Neoplasms of the Parotid Gland: Sebaceous Lymphadenoma and Sebaceous Carcinoma

Cytologic Features of Sebaceous Neoplasms of the Parotid Gland: Sebaceous Lymphadenoma and Sebaceous Carcinoma

Lynch Syndrome: Current management In 2019.

Nearly 5% of colorectal cancers are related to constitutional genetic abnormalities. In Lynch Syndrome (LS), the abnormality is a mutation of the deoxyribonucleic acid (DNA) repair system. The goal of this update is to update indications and surgical strategies for patients with LS. Different spectra of disease are associated with LS. The narrow spectrum includes cancers with a high relative risk: colorectal cancer (CRC), endometrial cancer, urinary tract cancers and small intestinal cancer. The broader spectrum includes ovarian tumors, glioblastoma, cutaneous tumors (keratoacanthomas and sebaceous tumors), biliary duct tumors, and gastric tumors. The clinical diagnosis of LS was initially based on the Amsterdam I and II Criteria published in the 1990s and subsequently on the revised Bethesda Criteria, which expanded the criteria and identified patients who should be screened for LS. For patients with LS, learned societies recommend early and regular endoscopic screening because of the high incidence of CRC, i.e., every one to two years from the age of 25 and then annually from the age of 40 or starting 10 years before the age of appearance of the youngest case of CRC in the family. Professional recommendations on prophylactic surgery to prevent cancers in patients with genetic predisposition were published in 2009 under the auspices of the French National Cancer Institute and are still current. There is no formal indication for prophylactic colectomy in LS. Numerous advances have been made in the understanding of LS, allowing a better knowledge of the prevalence of CRCs and associated cancers, with better endoscopic monitoring and a decrease in the prevalence and mortality of CRC.

Muir-Torre syndrome: the curious case of wobbly microsatellites and their mucosal Lynch

&lt;p&gt;MSH2 mismatch repair gene is commonly associated with Lynch syndrome; however, Lynch syndrome’s phenotypic variant, Muir-Torre syndrome is a lesser known entity comprising a spectrum of benign to malignant sebaceous neoplasms and is often the first etiology of a more significant prodromal syndrome. Both syndromes encompass gastrointestinal, genitourinary tract, and prostatic pathologies. We present a 15-year patient progression starting with new sebaceous hyperplasia and congenital melanocytic nevus skin lesions presenting in a 38-year-old caucasian male. After approximately four years additional cutaneous lesions began continuously appearing identified as: ulcerated sebaceoma, basal cell carcinoma, sebaceous hyperplasia, sebaceous adenoma, and hidradenoma. The patient went on to develop prostate adenocarcinoma and tubular adenoma of the ascending colon and rectum. Immunohistochemical staining demonstrated MSH2 and MSH6 instability and patient was recommended for Lynch Syndrome genetic testing. Later genetic analysis showed pathologic variant of MSH2 confirming Muir-Torre Syndrome. When multiple pathologies are involved that affect ectoderm differentiation, a diagnostic workup for microsatellite instability is recommended in association with a genetic counselor consultation. When a familial defect in a DNA repair enzyme (MSH1, MSH2, etc.) is known, we recommend PCR amplification for microsatellite instability in offspring between ages 5-15 to reduce morbidity and mortality in this population.&lt;/p&gt;

FOLLICULOSEBACEOUS CYSTIC HAMARTOMA OF THE ORAL MUCOSA: CLINICOPATHOLOGIC ANALYSIS OF 3 CASES OF AN UNCOMMON ENTITY

Objective Folliculosebaceous cystic hamartoma (FSCH) represents an unusual type of cutaneous hamartomatous proliferation, manifesting clinically as an asymptomatic, slow-growing papulo-nodular lesion that most commonly affects the facial skin, primarily around the nose. Microscopically, FSCH is composed of infundibular structures with numerous radiating sebaceous lobules embedded in a mesenchymal stromal component. Despite the nomenclature, significant cystic dilatation is observed in Results Three FSCH cases were identified in the archives of the Oral and Maxillofacial Pathology Laboratory, University of Minnesota between 2008-2017 with M:F ratio=2:1 and mean age =42.3 years (age range: 27-61 years). All cases were located in the buccal mucosa and presented as painless, submucosal nodules of long duration measuring 0.6-1.5 cm. No previous history of skin graft in the area of the lesions was reported and none of the patients had a clinically identifiable syndrome. Histopathologically, oral FSCHs showed aggregates of variable number of rudimentary follicular structures and sebaceous lobules. Occasionally, the sebaceous glands were radially arranged and attached to small in size infundibular structures featuring rare microcystic changes, or were scattered in the deeper portions of the oral mucosa. The pilosebaceous units were immersed in a dense, focally desmoplastic, connective tissue stroma with variable amounts of mature adipocytes and vessels. Piloerector muscles were present in 2 out of 3 FSCHs, while inflammation was generally absent. Conclusions Oral FSCH is an infrequent lesion which can be misdiagnosed as ectopic Fordyce granules or other sebaceous neoplasms. Similar to a subgroup of cutaneous FSCH, oral lesions fail to show prominent cystic formation. Notably, a predilection for the buccal mucosa is reported. Whether oral FSCH represents late developing stage of trichofolliculoma remains unknown.

Muir-Torre syndrome appropriate use criteria: Effect of patient age on appropriate use scores.

Muir-Torre syndrome (MTS) is a rare inherited syndrome, with an increased risk of sebaceous and visceral malignancy. Prior reports suggest screening for mismatch repair (MMR) deficiency may be warranted in patients <50 years and when sebaceous neoplasms are located on a non-head and neck location. Previously, appropriate use criteria (AUC) were developed for clinical scenarios in patients >60 years concerning the use of MMR protein immunohistochemistry (MMRP-IHC). This analysis explores the appropriateness of testing in patients ≤60 years. Panel raters from the AUC Task Force rated the use of MMRP-IHC testing for MTS for previously rated scenarios with the only difference being age. Results verify the previously developed AUC for the use of MMRP-IHC in neoplasms associated with MTS in patients >60 years. Results also show that in patients ≤60 years with a single sebaceous tumor on a non-head and neck site, MMRP-IHC testing should be considered. Testing can also be considered with a 2-antibody panel on periocular sebaceous carcinoma in younger patients. Our findings align with known evidence supporting the need to incorporate clinical parameters in identifying patients at risk for MTS, with age being a factor when considering MMRP-IHC testing.

Incidence and Histopathology of Sebaceous Gland Tumors in Dogs

The study was aimed to know the prevalence of sebaceous gland tumor in canine and its classification based on histopathology. A total of 569 biopsy samples of canines suspected for neoplastic growth received by Department of Veterinary Pathology from TVCC departments of College of Veterinary Science and A.H. Anand over last 16 years (2001 to 2017) were analyzed. The biopsy samples were subjected to histopathological examinations by using H and E staining. Out of 569 biopsy samples, sebaceous gland growth was observed in 23 (4.04%) cases. The highest incidence (39.13%) was recorded for 9 to 12 years of age. The incidence of sebaceous gland tumor was observed in all the breeds; however, the Labrador retriever was the most affected breed followed by Pomeranian, non-descript and others. The frequent site for sebaceous gland tumor was eyelid. Out of 23 sebaceous gland tumors, one hyperplasia, 19 adenomas, two , and one adenocarcinoma were observed, suggesting that sebaceous gland adenoma was the most common type of sebaceous gland tumors in canine.