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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.

Background: Non-melanocytic benign skin tumours encompass a diverse group of lesions, classified based on their cellular origin, such as epidermal, vascular, fibrous, neural, muscle, and adnexal tumours. Though they often reveal solitary lesions, multiple skin tumours focus on genodermatoses. Each syndrome exhibits distinct clinical characteristics and potential complications, including cutaneous and extra-cutaneous malignancies, some of which are potentially life-threatening. Diagnosing genetic syndromes is complex and requires numerous histopathological and immunohistochemistry tests due to similarities between the adnexal tumours and basal cell carcinoma upon pathology. Methods: To illustrate the clinical practice, we conducted a retrospective case study that included eleven patients with genodermatoses referred to a tertiary dermatology clinic from September 2018 to April 2024. We have also conducted a research study on available treatment modalities in this setting. Results: Five patients with excellent aesthetic results were treated using a recently approved FDA plasma device. After searching SCOPUS and PubMed database records, we assessed 96 original articles to present current knowledge regarding the dermato-surgical approach. Conclusions: Multiple skin tumours, especially on the face, may significantly affect patients' quality of life and have psychological consequences. An appropriate treatment selection tailored to the patient's needs should be provided. There is no standardised treatment for multiple benign tumours in genodermatoses, and selected methods with varying efficacy are employed. We presented the utility of a new plasma device in these settings. [ABSTRACT FROM AUTHOR]

Abstract Background Sebaceous carcinoma is a very rare malignant skin adnexal tumor that is occasionally aggressive. We have not seen a case of sebaceous carcinoma in our center in the last 10 years. It is extremely rare in Black Africans. Case presentation We described the case of a 55-year-old man African man who presented to our ophthalmologist with complaints of growth on the right upper eyelid for 8 months. He had surgery and chemotherapy for rectal carcinoma 6 years prior to presentation and received his last dose of chemotherapy 5 years before seeing our ophthalmologist. There was a history of spontaneous unprovoked bleeding from the lesion. He subsequently underwent surgical excision under general anesthesia. Histology of the mass showed an effaced architecture due to proliferating malignant epithelial cells disposed as trabecules, solid nests, and tongues. The microscopic features of widespread multivacuolated cytoplasm of the neoplastic cells led us to conclude that the tumor was a sebaceous carcinoma. The patient is alive and well. Conclusion Sebaceous carcinoma is a rare malignant skin adnexal tumor in Black Africans. It can present as an eyelid mass with spontaneous bleeding. It can follow cancer chemotherapy either because of its association with other tumors in Muir–Torre syndrome or because of mutagenic effects of chemotherapeutic agents.

Background: Sebaceous carcinoma is a very rare malignant skin adnexal tumor that is occasionally aggressive. We have not seen a case of sebaceous carcinoma in our center in the last 10 years. It is extremely rare in Black Africans. Case presentation: We described the case of a 55-year-old man African man who presented to our ophthalmologist with complaints of growth on the right upper eyelid for 8 months. He had surgery and chemotherapy for rectal carcinoma 6 years prior to presentation and received his last dose of chemotherapy 5 years before seeing our ophthalmologist. There was a history of spontaneous unprovoked bleeding from the lesion. He subsequently underwent surgical excision under general anesthesia. Histology of the mass showed an effaced architecture due to proliferating malignant epithelial cells disposed as trabecules, solid nests, and tongues. The microscopic features of widespread multivacuolated cytoplasm of the neoplastic cells led us to conclude that the tumor was a sebaceous carcinoma. The patient is alive and well. Conclusion: Sebaceous carcinoma is a rare malignant skin adnexal tumor in Black Africans. It can present as an eyelid mass with spontaneous bleeding. It can follow cancer chemotherapy either because of its association with other tumors in Muir–Torre syndrome or because of mutagenic effects of chemotherapeutic agents. [ABSTRACT FROM AUTHOR]

Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson–Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir–Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions' undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson–Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented. [ABSTRACT FROM AUTHOR]

Background: Skin appendageal tumors (SAT) are a rare group of tumors that are classified according to their line of appendageal differentiation along eccrine, apocrine, follicular, and sebaceous lines. However, they are relatively uncommon and create diagnostic difficulties for the pathologist. Recognition of malignant transformation adds to the importance of an accurate diagnosis. A paucity of clinicopathological data from the Himalayan region of India, in particular, prompted the conduct of this study. Aim: To study the clinical and histopathological spectrum of SAT during a period of 1 year received at our hospital. Materials and Methods: A retrospective study was carried out at the Pathology department of our hospital. All relevant clinical characteristics were noted in addition to the histopathological features. Slides stained with both hematoxylin and eosin and special stains where necessary were used to supplement the diagnoses. Results: A total of 17 cases were diagnosed in 1 year (January 2021 to December 2021) at our institute. The predominant age group was 40–59 years. Females outnumbered males, with a male: female ratio of 0.8:1. The most common location of tumors was in the head and neck (90.90%). The majority of cases were benign (90.90%). The majority of tumors were of follicular differentiation (54.55%). We found one malignant tumor of sebaceous differentiation. Conclusion: The clinical presentation is remarkably similar to most SAT. In our study, we found that majority of tumors were benign and located in the head and neck. The importance of an accurate histopathological diagnosis is essential in these tumors to diagnose the malignant counterparts and differentiate them from more common skin tumors with different prognoses. [ABSTRACT FROM AUTHOR]

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. To describe the epidemiology of SC, copresentation of other cancers, and population level frequency of MMR screening in SC. A population-based retrospective cohort study of SC patients in the National Cancer Registration and Analysis Service in England. 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. Retrospective design. 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. [ABSTRACT FROM AUTHOR]

Abstract Background Sebaceous carcinoma is an uncommon non-melanoma skin cancer. Extraocular sites are extremely rare, with only a few cases reported in the medical literature. This article reviews the diagnostic challenges and treatment of a case of sebaceous carcinoma of nasal ala. Case presentation A 75-year-old female presented with a slow-growing right nasal alar mass for the last 1.5 years. It was nodular in appearance and covered with crusts and concretions. An incisional biopsy confirmed the diagnosis of sebaceous carcinoma. The patient underwent a wide local excision of the mass followed by nasolabial flap reconstruction. Conclusions Sebaceous Carcinoma should be included in the differential diagnosis of an elderly patient with nasal growth to avoid delaying treatment.

Sebaceous carcinoma is a rare cutaneous malignancy which is typically regarded as relatively aggressive and has traditionally been subdivided into periorbital or extraorbital tumours. We conducted a retrospective review of all cases of sebaceous carcinoma reported to the Western Australian Cancer Registry between 1987 and May 2019. The incidence of sebaceous carcinoma in Western Australia has increased over the last three decades, with extraorbital tumours being much more common than periorbital tumours. Very few sebaceous carcinomas have led directly to the death of patients; however, adverse outcomes were more likely with periorbital tumours, in particular local recurrence and the need for major surgical intervention. [ABSTRACT FROM AUTHOR]

Background: Sebaceous neoplasms (SNs) always raise the possibility of an association with Muir-Torre syndrome (MTS) and permit to screen internal malignancies, colorectal and endometrial carcinomas, before they become symptomatic. Immunohistochemistry (IHC), molecular biology, and clinical examination are different approaches for detection of MTS. We conducted a retrospective analysis of non-selected SNs in order to determine the optimal tools to implement for MTS screening. Methods: Deficient MMR phenotype (dMMR) was determined by either IHC using antibodies directed to four mismatch repair (MMR) antigens on tissue microarray or molecular biology using pentaplex PCR. The Mayo Clinic risk score of MTS was calculated from medical records. Sensibility and specificity of each test for the detection of MTS were determined. Results: We included 107 patients, 8 with multiple SNs, for a total of 123 SNs (43 sebaceous adenomas, 19 sebaceomas, and 61 sebaceous carcinomas (SC)). Loss of at least one MMR protein was observed in 70.7% of tumors, while 48% had a microsatellite instable phenotype. Concordance between both techniques was 92.9%, with a 0.85 Cohen's kappa coefficient. Nineteen patients (20.2%) had a ≥2 points Mayo Clinic risk score, one having a pMMR SC. Among the 13 patients with confirmed MTS, 2 had a low Mayo Clinic risk score (1 point). IHC had the highest sensitivity for MTS screening (100%) with a specificity of 34.1%, while a >2-point Mayo Clinic risk score had a lower sensitivity (92%) but a higher specificity (89%). Conclusion: To detect MTS in SN patients, the first-line Mayo Clinic risk score followed by IHC appears to be the most accurate strategy with lower cost for society. This strategy should be adapted to the medico-economic resources of each country. [ABSTRACT FROM AUTHOR]

Muir–Torre syndrome (MTS) is a rare subtype of hereditary nonpolyposis colorectal cancer syndrome caused by a defect in DNA mismatch repair leading to microsatellite instability. It is characterized by the presence of at least one sebaceous gland tumor and one internal malignancy, most commonly colorectal and endometrial tumors. These patients have a high propensity for tumorigenesis, and while strict screening protocols are in place, there are only two cases that describe the management approach to recurrent colon cancer. Here, we present a case of recurrent colorectal cancer in a patient with MTS, and describe how it was managed at our facility by a multidisciplinary team. [ABSTRACT FROM AUTHOR]

Cutaneous sebaceous carcinoma can be classified into periocular and extraocular and can occur as part of Muir Torre syndrome. It is usually a pink-red or yellow solitary nodule, mainly located in the head and neck region. According to the Literature, dermoscopy is characterized in most cases by yellow color, polymorphic vessels and ulceration. We performed a review of the Literature and we found 14 papers describing the dermoscopic features of 33 sebaceous carcinomas, to which we added a case that we have recently observed. Compared to the data of the Literature and in particular to the latest published reviews, we found that milky-red areas are frequently observed in CSC (47% of the cases) and can be added to the main dermoscopic features for the diagnosis. Histology showed, in our case, some features that were consistent with a cutaneous sebaceous carcinoma with a secretory pattern, and other features that were instead consistent with a non-secretory pattern. This was probably due to the fact that the lesion we observed was a moderately differentiated and not well-differentiated cutaneous sebaceous carcinoma. The presence of a cutaneous sebaceous carcinoma should always alert the clinician on the possible association with Muir-Torre syndrome and immunohistochemistry for mismatch repair genes defects can help in the diagnostic pathway.

Background: Sebaceous carcinoma is an uncommon non-melanoma skin cancer. Extraocular sites are extremely rare, with only a few cases reported in the medical literature. This article reviews the diagnostic challenges and treatment of a case of sebaceous carcinoma of nasal ala. Case presentation: A 75-year-old female presented with a slow-growing right nasal alar mass for the last 1.5 years. It was nodular in appearance and covered with crusts and concretions. An incisional biopsy confirmed the diagnosis of sebaceous carcinoma. The patient underwent a wide local excision of the mass followed by nasolabial flap reconstruction. Conclusions: Sebaceous Carcinoma should be included in the differential diagnosis of an elderly patient with nasal growth to avoid delaying treatment. [ABSTRACT FROM AUTHOR]

Muir-Torre Syndrome (MTS) is associated with multiple visceral malignancies. Initial presentation may be a benign skin tumor mimicking a sebaceous cyst. This case report highlights the importance of early diagnosis, genetic testing, and multidisciplinary screening. A 67-year-old man was diagnosed with MTS following excision of a skin lesion (sebaceoma). He was declined both screening colonoscopy and genetic testing. Subsequently, advanced colon cancer was found following presentation with iron deficiency anemia, which ultimately led to palliation despite successful surgery. MTS can present insidiously with skin lesions clinically diagnosed as sebaceous cysts. Once MTS is suspected on histology, genetic testing and screening for MTS-related cancers is warranted. Better understanding of the genetic variants for MTS can aid in earlier diagnosis thus not dismissing the need for screening for MTS-related cancers. [ABSTRACT FROM AUTHOR]

Immunohistochemistry (IHC) of cutaneous sebaceous lesions (SL) can be used to screen patients for Lynch syndrome (LS). There is little data on rates of genetic referral and outcomes of genetic testing for patients with SL. This single-center retrospective study characterizes 400 + patients with SL, including IHC results, genetics referrals, and outcomes of genetic testing. Retrospective chart reviews were performed for patients with a pathology-confirmed diagnosis of SL at the University of Michigan between January 2009 and December 2019. 447 patients with 473 SL were identified. Excluding 20 patients with known LS, IHC was conducted in 173 (41%) patients. 92/173 (53%) patients had abnormal results. 69 of these 92 (75%) patients were referred to genetics. 32 additional patients were referred with normal IHC (n = 22) or without IHC (n = 10). Of 101 patients referred, 65 (64%) were seen and 47 (47%) completed genetic testing. 7/47 (15%) had pathogenic variants associated with LS, six with concordant abnormal IHC and one without IHC. Cancer genetics referral of patients with SL, particularly for lesions with abnormal IHC, yields a significant rate of LS diagnosis. Providers should consider genetics referral for patients with SL. [ABSTRACT FROM AUTHOR]

Little is known about patient-specific risk factors for skin neoplasia in individuals with Lynch syndrome (LS). Identify clinical factors associated with development of skin neoplasms in LS. Clinical data were systematically collected on a cohort of LS carriers (confirmed pathogenic germline variants in MLH1 , MSH2 , MSH6 , PMS2 , or EPCAM) age ≥18 undergoing clinical genetics care at Dana-Farber Cancer Institute from January 2000 to March 2020. Multivariable logistic regression was performed to evaluate clinical factors associated with skin neoplasia. Of 607 LS carriers, 9.2% had LS-associated skin neoplasia and 15.0% had non-LS-associated skin neoplasia; 58.2% (353/607) had documentation of prior dermatologic evaluation; 29.7% (38/128) with skin neoplasms lacked a history of visceral LS-associated malignancy. LS-associated skin neoplasms were significantly associated with male sex, age, race, MLH1 pathogenic germline variants, MSH2/EPCAM pathogenic germline variants, and personal history of non-LS skin neoplasms. Non-LS-associated skin neoplasms was significantly associated with age, number of first- and second-degree relatives with non-LS-associated skin neoplasms, and personal history of LS-associated skin neoplasms. Single-institution observational study; demographic homogeneity. Skin neoplasms are common in individuals with LS. We identified clinical factors associated with LS- and non-LS-associated skin neoplasms. Regular dermatologic surveillance should be considered for all LS carriers. [ABSTRACT FROM AUTHOR]

Abstract Background Muir–Torre syndrome is an autosomal-dominant mutation in mismatch repair genes that gives rise to sebaceous tumors and visceral malignancies over time. Because colorectal and genitourinary cancers are common in Muir–Torre syndrome, duodenal carcinoma diagnoses are often delayed. Case presentation A 58-year-old woman presented with severe emaciation, anorexia, and upper abdominal pain. She had a history of rectal carcinoma, ascending colon carcinoma, and a right shoulder sebaceous carcinoma. Upper gastrointestinal endoscopy and computed tomography examinations suggested duodenal obstruction due to superior mesenteric artery syndrome, leading to long-term observation. Seven months later, she was finally diagnosed with duodenal carcinoma of the third portion. As the papilla of Vater was preservable due to tumor location, she received a partial duodenectomy in lieu of a pancreatoduodenectomy. Pathologically, the tumor was a well-differentiated adenocarcinoma with a classification of T3N0M0 Stage IIA (UICC, 8th edition). The postoperative course was uneventful and her appetite returned. A mutation in mismatch repair gene MSH2 confirmed the diagnosis of Muir–Torre syndrome genetically. Three years later, her nutritional status has fully recovered and she is free from both recurrence and metastasis. Conclusion In patients with comorbid skin sebaceous tumors and gastrointestinal malignancies, genetic screening is strongly recommended. Patients with Muir–Torre syndrome require long-term follow-up, and function-preserving treatment is desirable.

Muir-Torre syndrome is a rare form of hereditary nonpolyposis colorectal cancer syndrome; simplified, it is an association of at least one sebaceous skin tumor and at least one visceral malignancy. It follows an autosomal dominant pattern of inheritance. We present a case of a recurrent sebaceous carcinoma of the eyelid in a patient previously operated on for colorectal carcinoma. During his treatments, he was examined by experts in different medical fields. After genetic counseling, he also underwent genetic testing.

Sebaceous neoplasms describe a group of tumors with sebaceous differentiation commonly seen in lesions located primarily in the face and neck. The majority of these lesions are benign, while malignant neoplasms with sebaceous differentiation are uncommon. Sebaceous tumors present a strong association with the Muir–Torre Syndrome. Patients suspected with this syndrome should undergo neoplasm excision, followed by histopathologic and additional immunohistochemistry and genetics examinations. Clinical and dermoscopic features of the sebaceous neoplasms, as well as management procedures collected from the literature analysis regarding sebaceous carcinoma, sebaceoma/sebaceous adenoma, and sebaceous hyperplasia are described in the current review. A special note is made for describing the Muir–Torre Syndrome in patients presenting multiple sebaceous tumors. [ABSTRACT FROM AUTHOR]

Muir–Torre syndrome (MTS) is a rare autosomal dominant genetic condition resulting from microsatellite instability which is caused by mutations in DNA mismatch repair genes. This disorder predisposes individuals to skin tumors and visceral malignancies and may be precipitated in immunocompromised or transplant patients. MTS requires close cancer surveillance for the patient and family because of the tendency to develop aggressive internal malignancies and sebaceous carcinoma. Immunohistochemistry and or genetic testing can confirm the diagnosis of MTS. This review offers an update to the guidelines, diagnosis, and management of MTS while offering a unique perspective on an important but lesser-known syndrome. [ABSTRACT FROM AUTHOR]

Routine screening of tumors for DNA mismatch repair (MMR) deficiency (dMMR) in colorectal (CRC), endometrial (EC) and sebaceous skin (SST) tumors leads to a significant proportion of unresolved cases classified as suspected Lynch syndrome (SLS). SLS cases (n = 135) were recruited from Family Cancer Clinics across Australia and New Zealand. Targeted panel sequencing was performed on tumor (n = 137; 80×CRCs, 33×ECs and 24xSSTs) and matched blood-derived DNA to assess for microsatellite instability status, tumor mutation burden, COSMIC tumor mutational signatures and to identify germline and somatic MMR gene variants. MMR immunohistochemistry (IHC) and MLH1 promoter methylation were repeated. In total, 86.9% of the 137 SLS tumors could be resolved into established subtypes. For 22.6% of these resolved SLS cases, primary MLH1 epimutations (2.2%) as well as previously undetected germline MMR pathogenic variants (1.5%), tumor MLH1 methylation (13.1%) or false positive dMMR IHC (5.8%) results were identified. Double somatic MMR gene mutations were the major cause of dMMR identified across each tumor type (73.9% of resolved cases, 64.2% overall, 70% of CRC, 45.5% of ECs and 70.8% of SSTs). The unresolved SLS tumors (13.1%) comprised tumors with only a single somatic (7.3%) or no somatic (5.8%) MMR gene mutations. A tumor-focused testing approach reclassified 86.9% of SLS into Lynch syndrome, sporadic dMMR or MMR-proficient cases. These findings support the incorporation of tumor sequencing and alternate MLH1 methylation assays into clinical diagnostics to reduce the number of SLS patients and provide more appropriate surveillance and screening recommendations. [ABSTRACT FROM AUTHOR]

A subset of patients with Lynch Syndrome demonstrates cutaneous manifestations of the disorder. Characterization of these Lynch-related skin lesions could help in early recognition of patients with Lynch Syndrome. A broad search of the literature on OVID Medline and Embase was carried out to capture papers reporting cutaneous manifestations in Lynch Syndrome patients. The results were uploaded into Mendeley reference management software. The PRISMA workflow was used in the literature selection process. In this systematic review, data were collected from 961 cases from 413 studies, including 380 molecularly confirmed Lynch Syndrome cases. The main skin lesions were: Sebaceous adenomas (43%), sebaceous carcinomas (27%), keratoacanthomas (16%), sebaceomas (13%), squamous cell carcinomas (23%), and basal cell carcinomas (10%). MSH2 variants were the most common underlying genotype (72%). Assessment of mismatch repair by immunohistochemistry, microsatellite instability analysis, or both were performed on 328 skin lesions from 220 (58%) molecularly confirmed cases. In those skin lesions, 95% of Immunohistochemistry and 90% of the microsatellite instability test results were concordant with the underlying genotype. Sebaceous skin lesions are well-recognised phenotypic features of Lynch Syndrome. Our results show that squamous and basal cell carcinomas are relatively common in patients with Lynch syndrome; however, available evidence cannot confirm that Lynch syndrome is causal. Immunohistochemistry and/or microsatellite instability testing of skin tumours in patients with a family history of Lynch Syndrome-associated cancers may be a useful approach in identifying patients requiring referral to Clinical Genetics and/or consideration of germline genetic testing for Lynch Syndrome. [ABSTRACT FROM AUTHOR]

The risks of development of colorectal and endometrial cancers in individuals with Lynch syndrome (LS) are well known and have been widely studied. In recent years, the potential association of other malignancies, including prostate cancer, with LS has been considered. Decision-making regarding screening for prostate cancer in the generalized population can be complicated; accounting for the possibility of a higher risk of cancer conferred by a potential genetic predisposition confounds the creation of salient guidelines even further. Although tissue-agnostic treatment approvals have been granted to several immune checkpoint inhibitors (ICIs) for their use in the treatment of subsets of patients whose tumors exhibit high levels of microsatellite instability or high tumor mutational burden, a paucity of data exists regarding the use of ICIs in the first line treatment of patients with locally advanced prostate cancer harboring these features. A significant reduction in tumor volume in response to the combination of immune checkpoint inhibition and androgen deprivation therapy is described in this report of a male with Muir-Torre syndrome who was found to have locally advanced adenocarcinoma of the prostate. While anecdotal, the anti-tumor activity of this combination of therapy is notable and calls attention to the importance of considering further investigation of the use of immune checkpoint blockade as a primary therapeutic option in patients with localized prostate cancer. [ABSTRACT FROM AUTHOR]

Keratoacanthoma (KA) is a fast-growing skin tumor subtype that can be observed as a solitary lesion or rarely as multiple lesions in the context of rare genetic syndromes. Syndromes with multiple keratoacanthoma-like lesions have been documented as multiple self-healing squamous epithelioma (Ferguson–Smith syndrome), eruptive keratoacanthoma of Grzybowski, multiple familial keratoacanthoma of Witten and Zak Muir–Torre syndrome, and incontinentia pigmenti. The treatment approach of those entities is challenging due to the numerous lesions, the lesions’ undefined nature, and the co-existence of other malignant skin tumors. Herein, we report a case of a 40-year-old woman who developed multiple treatment-resistant Ferguson–Smith-like keratoacanthomas with a co-existing large and ulcerated invasive squamous cell carcinoma and microcystic adnexal carcinoma on the scalp. Multiple keratoacanthomas on her extremities were successfully treated with oral acitretin (0.5 mg/kg/day) in combination with topical Fluorouracil (5-FU) 5%, while excision and plastic surgery restoration were performed to treat the ulcerated cancer lesion on her scalp. Due to the interesting nature of this rare syndrome, we performed a literature review including case reports and case series on multiple-KA-like lesions syndromes and focusing on diagnosis and therapy approaches. We also conducted a comparison of patient reports, which included assessing the clinical appearance of the lesions and evaluating the success and progress or the failure of various treatment approaches that were implemented.

The risks of development of colorectal and endometrial cancers in individuals with Lynch syndrome (LS) are well known and have been widely studied. In recent years, the potential association of other malignancies, including prostate cancer, with LS has been considered. Decision-making regarding screening for prostate cancer in the generalized population can be complicated; accounting for the possibility of a higher risk of cancer conferred by a potential genetic predisposition confounds the creation of salient guidelines even further. Although tissue-agnostic treatment approvals have been granted to several immune checkpoint inhibitors (ICIs) for their use in the treatment of subsets of patients whose tumors exhibit high levels of microsatellite instability or high tumor mutational burden, a paucity of data exists regarding the use of ICIs in the first line treatment of patients with locally advanced prostate cancer harboring these features. A significant reduction in tumor volume in response to the combination of immune checkpoint inhibition and androgen deprivation therapy is described in this report of a male with Muir-Torre syndrome who was found to have locally advanced adenocarcinoma of the prostate. While anecdotal, the anti-tumor activity of this combination of therapy is notable and calls attention to the importance of considering further investigation of the use of immune checkpoint blockade as a primary therapeutic option in patients with localized prostate cancer.

Background: Muir–Torre syndrome is an autosomal-dominant mutation in mismatch repair genes that gives rise to sebaceous tumors and visceral malignancies over time. Because colorectal and genitourinary cancers are common in Muir–Torre syndrome, duodenal carcinoma diagnoses are often delayed. Case presentation: A 58-year-old woman presented with severe emaciation, anorexia, and upper abdominal pain. She had a history of rectal carcinoma, ascending colon carcinoma, and a right shoulder sebaceous carcinoma. Upper gastrointestinal endoscopy and computed tomography examinations suggested duodenal obstruction due to superior mesenteric artery syndrome, leading to long-term observation. Seven months later, she was finally diagnosed with duodenal carcinoma of the third portion. As the papilla of Vater was preservable due to tumor location, she received a partial duodenectomy in lieu of a pancreatoduodenectomy. Pathologically, the tumor was a well-differentiated adenocarcinoma with a classification of T3N0M0 Stage IIA (UICC, 8th edition). The postoperative course was uneventful and her appetite returned. A mutation in mismatch repair gene MSH2 confirmed the diagnosis of Muir–Torre syndrome genetically. Three years later, her nutritional status has fully recovered and she is free from both recurrence and metastasis. Conclusion: In patients with comorbid skin sebaceous tumors and gastrointestinal malignancies, genetic screening is strongly recommended. Patients with Muir–Torre syndrome require long-term follow-up, and function-preserving treatment is desirable. [ABSTRACT FROM AUTHOR]

This case highlights the successful use of pembrolizumab for neoadjuvant treatment of MMR‐deficient sebaceous carcinoma of bilateral eyelids to reduce tumour burden allowing smaller defect post‐Mohs surgery and better reconstructive outcome. Microsatellite stability, tumour mutational burden and PD‐L1 expression are important prognostic factors to be considered for the use of neoadjuvant pembrolizumab. Further studies are needed to determine if neoadjuvant pembrolizumab consistently improves surgical and cosmetic outcomes and reduces local recurrence and metastasis. [ABSTRACT FROM AUTHOR]

Fang Liu, Fei Qi, Xiuying Zhang, Mei Cao Department of Dermatology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People’s Republic of ChinaCorrespondence: Fang LiuDepartment of Dermatology, Beijing Chaoyang Hospital, Capital Medical University, Beijing, People’s Republic of ChinaTel +86-10-85231688Fax +86-10-85231217Email roseliufang@qq.comAbstract: Sebaceous carcinoma (SC) is a rare, aggressive malignancy. Most lesions occur in the periocular region, with few cases presenting with extraocular lesions. Here, we report a case of an 89-year-old woman with a 3-month history of a rapidly growing giant extraocular SC. The diagnosis was based on skin biopsy findings. We advised the patient to undergo surgical excision of the carcinoma. However, the patient and her family rejected our proposed surgical treatment, opting for topical traditional Chinese medicine as alternative treatment. The patient subsequently died of unknown causes at home, four months after the first visit. This case of treatment failure emphasizes the importance of early detection and treatment for these aggressive tumors.Keywords: sebaceous carcinoma, extraocular, skin neoplasms, malignancy, Muir-Torre syndrome

BACKGROUND: Sebaceous carcinoma is a rare adnexal neoplasm, with sebaceous differentiation which has an aggressive behavior, sebaceous extraocular carcinomas accounts for 25% of all neoplasms and the rest of periocular location, having as characteristic topography in the head and neck. It has metastatic potential in local and distal regions. Patients with this neoplasm should be considered for the diagnosis of Muir-Torre syndrome, a genetic disease characterized by visceral neoplasms, mainly gastrointestinal; with the association of at least one tumor of sebaceous lineage. CLINICAL CASE: A 65-year-old male patient with medical history of arterial hypertension and diabetes mellitus type 2, presented a new growth in the back of slow growth, 2 cm in diameter, exophytic, erythematous, friable, accompanied by wasting syndrome. A biopsy was taken which reported multifocal sebaceous carcinoma. Reference was made to surgical oncology where a wide resection and widening of the margins of the lesion were carried out, with negative borders by pathology department. The patient is under close monitoring with no recurrence. CONCLUSIONS: The behavior of neoplasms of sebaceous lineage, in particular sebaceous carcinoma, is aggressive, so its diagnosis must be prompt, with the appropriate approach, with intentional questioning for visceral tumor due to its association with Muir-Torre syndrome, to carry out complementary studies and rigorous monitoring. [ABSTRACT FROM AUTHOR]

Abstract Background Muir–Torre syndrome (MTS), which accounts for a small subset (1–3 %) of Lynch syndrome (LS), is an autosomal dominant genetic disorder characterized by sebaceous gland or keratoacanthoma associated with visceral malignancies. Most families with MTS have pathogenic germline variants (PGV) in MSH2. Sarcomas are not common on the LS tumor spectrum, and sarcomas associated with MTS are extremely rare. Case presentation Here we report a myxofibrosarcoma of the abdominal wall in a 73-year-old man with a sebaceoma that occurred synchronically, leading to a diagnosis of MTS. The loss of MLH1 and PMS2 protein expression was detected in immunohistochemistry, and high-frequency microsatellite instability (MSI-H) was also confirmed. A germline genetic analysis revealed that he harbored the MLH1 PGV. Conclusions This is the first case of MSI-H myxofibrosarcoma with MTS in an MLH1 PGV carrier. Although rare, we should recognize that sarcomas can be part of the spectrum of LS and MTS.

Patients with Muir-Torre Syndrome (MTS) are at increased risk of developing sebaceous carcinomas besides other visceral malignancies. Pembrolizumab is an effective therapy in patients with high microsatellite instability (MSI-H)/mismatch repair deficient (dMMR) tumors. We report a 70-year-old Caucasian man with a diagnosis of MTS who had multiple sebaceous carcinomas. Molecular profiling and immunohistochemical staining of the tumor cells revealed MSI-H/dMMR and high tumor mutational burden (TMB). He did not have evidence of metastatic disease. Following multiple failed local therapies to the left upper eyelid disease, he was treated with four doses of pembrolizumab which resulted in a complete resolution of the lesion. This case shows that Pembrolizumab can provide a complete response in MTS patients with MSI-H/dMMR sebaceous carcinoma. Although promising, this needs to be further validated in clinical trials.

Sebaceous neoplasms describe a group of tumors with sebaceous differentiation commonly seen in lesions located primarily in the face and neck. The majority of these lesions are benign, while malignant neoplasms with sebaceous differentiation are uncommon. Sebaceous tumors present a strong association with the Muir–Torre Syndrome. Patients suspected with this syndrome should undergo neoplasm excision, followed by histopathologic and additional immunohistochemistry and genetics examinations. Clinical and dermoscopic features of the sebaceous neoplasms, as well as management procedures collected from the literature analysis regarding sebaceous carcinoma, sebaceoma/sebaceous adenoma, and sebaceous hyperplasia are described in the current review. A special note is made for describing the Muir–Torre Syndrome in patients presenting multiple sebaceous tumors.

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Abstract The Muir‐Torre Syndrome is a rare genodermatosis, defined by the occurrence of sebaceous neoplasia and internal malignancies and caused by mutations in the mismatch repair gene. We describe the case of 58‐year‐old man who, over the course of several years, had multiple skin lesions and colon cancer. The syndrome was diagnosed using Sanger sequencing, which allowed us to find the causative mutation.

Abstract The therapeutic options for disease modification in relapsing-remitting multiple sclerosis (RRMS) have expanded remarkably in the last 15 years. Although intravenous immunoglobulins (IVIg) have shown some therapeutic effects in multiple sclerosis, reducing global supplies, restriction of treatment to essential indications and availability of effective alternative treatments for MS currently exclude IVIg from being an accepted therapy for MS, other than for some exceptional considerations. We report the case of a female patient with RRMS who was diagnosed with Ehlers-Danlos syndrome (EDS) and Muir-Torre syndrome (MTS) soon after the diagnosis of active RRMS was made. The coexisting conditions precluded the use of available disease-modifying treatments. She benefited from monthly and then bi-monthly IVIg, with a single mild relapse over 10 years. Discontinuation of IVIg due to reduced availability with a brief aborted course of subcutaneous PEGylated interferon-beta was followed by significant relapses. Five months after the first ocrelizumab infusion, she developed caecal cancer requiring colectomy. Reinstitution of IVIg is contemplated.

Competing Interests: None disclosed.

Abstract Muir-Torre syndrome is a rare, autosomal dominant genodermatosis, characterized by sebaceous neoplasms and visceral carcinomas. The authors describe the case of a patient who, 16 years after the diagnosis of colon carcinoma, presented a verrucous plaque on the pubic region, histopathologically compatible with sebaceous adenoma. The need to investigate this syndrome is emphasized, especially in cases of sebaceous neoplasms located outside the head, face, and neck. Screening for neoplasms in these patients and their families is mandatory.

Muir-Torre Syndrome is characterized by the association of sebaceous gland neoplasms and multiple visceral neoplasms. There are several types of visceral neoplasms that can be associated with the syndrome, especially adenocarcinomas of the colon, stomach, duodenum, breast, laryngeal, bladder tumors, hematologic neoplasms, retroperitoneum sarcomas, among others. The general objective of the work is to study aspects of Muir- Torre Syndrome. Therefore, a literature review was carried out, seeking authors who spoke about the proposed theme. The objective is also to report the case of a patient at the Hospital Escola de Valença (HEV), located in the city of Valença - RJ, who presented a year ago in a cyst back filled with bloody purulent secretion, who upon receiving the biopsy result, after exeresis of the cyst, with diagnosis of sebaceous carcinoma, was referred to Hospital Hinja, located in the city of Volta Redonda -- RJ. The patient has a history of malignant neoplasms in firstdegree relatives. The mother died of uterine cancer, the sister died of bowel cancer and the maternal grandmother of bowel cancer. The discussion is based on the correlation between sebaceous carcinoma and Muir-Torre Syndrome, as according to literature data, the factors that predispose the appearance of sebaceous carcinoma are unknown, however, some cases are associated with Muir-Torre Syndrome. The study verifies that the presence of multiple sebaceous gland tumors is the most constant dermatological manifestation that most characterizes Muir-Torre Syndrome. [ABSTRACT FROM AUTHOR]

Muir–Torre syndrome (MTS), a rare subtype of Lynch syndrome, is mostly autosomal dominant, which is caused by germline mutations in DNA mismatch repair (MMR) genes, the resulting microsatellite instability (MSI) of which increases the risk of developing sebaceous and other visceral tumors. Several reports have showed an association between immunosuppressive agents and the progression of latent MTS. In this report, we described a 41-year-old man with a history of kidney transplantation, having a rapid growth of the nodule on the anterior chest under immunosuppressive therapy, which was histologically proved to be sebaceous carcinoma. Systemic evaluation for visceral malignancies revealed sigmoid adenocarcinoma. These findings were consistent with the clinical diagnosis of MTS. Histological findings showed an absence of MMR proteins, including MSH2 and MSH6 both in the sebaceous carcinoma and sigmoid adenocarcinoma on immunohistochemical (IHC) analysis. A frame-shift mutation of c.229_230delAG (p. Ser77fs) in the MSH2 exon 2 in the lesion was detected by next-generation sequencing (NGS) analysis. This case report not only reveals a new site of MSH2 mutation in this family of East Asian descent but also highlights the importance of adequate diagnosis for Muir–Torre syndrome, as well as further prevention of the development of latent visceral tumors in kidney transplant recipients.