471 results match your criteria Muir-Torre Syndrome


Metastatic Prostatic Adenocarcinoma in Patient With Muir-Torre Syndrome Misdiagnosed as Metastatic Sebaceous Carcinoma: Case Report and Systematic Literature Review.

Am J Dermatopathol 2020 Jun 5. Epub 2020 Jun 5.

Department of Pathology, McGill University Health Centre, Montreal, Québec, Canada.

Muir-Torre syndrome (MTS) is a rare autosomal dominant condition characterized by the presence of at least one cutaneous sebaceous tumor and one visceral malignancy, arising mostly from the gastrointestinal tract. We present the case of a 63-year-old man with several cutaneous and visceral neoplasias in the context of MTS, and a pelvic lymph node lesion diagnosed initially as metastatic sebaceous carcinoma, but later identified as metastasis from a newly diagnosed prostatic adenocarcinoma. Histological similarities between these 2 lesions are discussed. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001633DOI Listing

Immuno-Interception for Patients with High-Risk Cancer.

Cancer Prev Res (Phila) 2020 Jun;13(6):493-496

Cancer Prevention Fellowship, & Gastrointestinal & Other Cancers Research Group, Division of Cancer Prevention, NCI, Bethesda, Maryland.

Cancer immune-interception for prevention of recurrence in patients with high-risk familial cancer like Muir-Torre syndrome or Lynch syndrome using immune checkpoint blockade inhibitors is a promising approach. Albeit, as described in a case report by Pollak and colleagues in the April 2020 issue of , it has the potential to be used as immune-interceptive with alternative dosing regimens for cancers with microsatellite instability. The combination of additional cancer preventive and immunopreventive approaches, such as vaccines and minimal dose of immune checkpoint blockade inhibitors, is another unexplored modality for cancer interception in high-risk individuals. Read More

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http://dx.doi.org/10.1158/1940-6207.CAPR-20-0136DOI Listing

The DNA mismatch repair system in sebaceous tumors: an update on the genetics and workup of Muir-Torre syndrome.

Authors:
Mohammed Dany

Cutis 2020 03;105(3):E34-E37

Department of Dermatology, University of Pennsylvania, Philadelphia, USA.

Mutations in the genes encoding the DNA mismatch repair (MMR) are identified in most sebaceous neoplasms. Sebaceous tumors are rare in the general population; however, they are common in patients with inherited or acquired mutations in the MMR system. This article describes the DNA MMR system and its implication in sebaceous tumors as well as discusses the recent recommendations for screening for Muir-Torre syndrome (MTS) in patients presenting with sebaceous tumors. Read More

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An Intrapatient Concordance Study of Mismatch Repair Protein Immunohistochemical Staining Patterns in Patients With Muir-Torre Syndrome.

JAMA Dermatol 2020 Apr 8. Epub 2020 Apr 8.

Department of Dermatology, Hospital of the University of Pennsylvania, Philadelphia.

Importance: Appropriate use criteria for Muir-Torre syndrome (MTS) screening suggest that mismatch repair protein (MMRP) immunohistochemical (IHC) testing is usually appropriate in patients with 2 or more sebaceous neoplasms (SNs). While MTS is known to be caused by a germline mutation in mismatch repair genes, data are limited as to whether individual sebaceous tumors in these patients with multiple lesions show identical MMRP IHC staining patterns.

Objective: To determine concordance of MMRP IHC staining patterns in lesions of patients with MTS who have multiple SNs. Read More

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http://dx.doi.org/10.1001/jamadermatol.2020.0433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7142808PMC

Cancer Immunoprevention: A Case Report Raising the Possibility of "Immuno-interception".

Cancer Prev Res (Phila) 2020 04;13(4):351-356

Cancer Prevention Centre, Jewish General Hospital, Montreal, Quebec, Canada.

Immune checkpoint blockade therapy provides substantial benefits for subsets of patients with advanced cancer, but its utility for cancer prevention is unknown. Lynch syndrome (MIM 120435) is characterized by defective DNA mismatch repair and predisposition to multiple cancers. A variant of Lynch syndrome, Muir-Torre syndrome (MIM 158320), is characterized by frequent gastrointestinal tumors and hyperplastic or neoplastic skin tumors. Read More

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http://dx.doi.org/10.1158/1940-6207.CAPR-19-0528DOI Listing

Sebaceous neoplasms: Just the thin end of the wedge.

Clin Case Rep 2020 Feb 22;8(2):393-395. Epub 2020 Jan 22.

Department of Orthopaedics "Papageorgiou" General Hospital Aristotle University School of Medicine Thessaloniki Greece.

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. Read More

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http://dx.doi.org/10.1002/ccr3.2627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7044383PMC
February 2020

Muir-Torre Syndrome With a Frame-shift Mutation in the MSH2 Gene: A Rare Case Report and Literature Review.

Int J Gynecol Pathol 2020 Mar;39(2):136-140

Department of Pathology, Wuhan University Zhongnan Hospital, and Wuhan University Center for Pathology and Molecular Diagnostics (Q.C., Z.X., S.T., S.X.) Department of Pathology, Hubei Cancer Hospital (Manxiang W., S.J., Mingwei W.), Wuhan, Hubei Province, China Department of Pathology, University of Chicago, Chicago, Illinois (S.X.).

Muir-Torre syndrome is a rare subtype of Lynch syndrome characterized by coincidence of skin neoplasm and visceral malignancies. Here, we report a case of this rare disease, whose diagnosis of the syndrome was first suspected by the pathologist. This was a 60-yr-old woman who presented with an axillary skin nodule, which was diagnosed as basal cell carcinoma. Read More

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http://dx.doi.org/10.1097/PGP.0000000000000572DOI Listing

Concomitant Orbital Tumours: Small Lymphocytic Lymphoma Involving the Lacrimal Gland of a Patient with Clinical Diagnoses of Muir-Torre Syndrome and Extensive Sebaceous Gland Carcinoma of the Ipsilateral Eyelid.

Ocul Oncol Pathol 2020 Jan 5;6(1):15-19. Epub 2019 Jun 5.

Department of Molecular and Clinical Cancer Medicine, University of Liverpool, Liverpool, United Kingdom.

Background/aims: We present a case of 2 concomitant tumours, i.e., a sebaceous carcinoma (SC) and a small lymphocytic lymphoma (SLL), in the lacrimal gland of a patient with Muir-Torre syndrome

Methods: Clinical history, orbital examination, diagnostic biopsy, excisional biopsy, and histopathologic analysis were utilized. Read More

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http://dx.doi.org/10.1159/000500161DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6984142PMC
January 2020

Cutaneous sebaceous carcinoma.

Australas J Dermatol 2020 Jan 19. Epub 2020 Jan 19.

Adelaide Skin and Eye Centre, Adelaide, South Australia, Australia.

Cutaneous sebaceous carcinoma occurs almost exclusively on the head and neck and has a significant propensity for recurrence and metastasis. It is easily mistaken for benign conditions, resulting in inappropriate management. Thus, it is important to maintain a high index of suspicion. Read More

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http://dx.doi.org/10.1111/ajd.13234DOI Listing
January 2020

Impact of surgery and adjuvant treatment on the outcome of extraocular sebaceous carcinoma: a systematic review and individual patient's data analysis of 206 cases.

Int J Dermatol 2020 Apr 18;59(4):494-505. Epub 2019 Dec 18.

Department of Radiation Oncology, All India Institute of Medical Sciences, New Delhi, India.

Background: Extraocular sebaceous carcinoma (EOSC) is an aggressive malignancy of the sebaceous gland. Surgery is considered the cornerstone of treatment, but there is lack of clarity about extent and adjuvant treatment.

Methods: We conducted a systematic review and analysis of individual patient data of all published cases of EOSC to look into demography, pattern of care, importance of type of surgery, and other adjuvant treatment and survival outcome. Read More

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http://dx.doi.org/10.1111/ijd.14739DOI Listing
April 2020
1.227 Impact Factor

A rare giant extraocular, anterior chest wall sebaceous carcinoma.

Int J Surg Case Rep 2020 3;66:110-114. Epub 2019 Dec 3.

Plastic Surgery Department, Sefako Makgatho Health Sciences University, Dr George Mukhari Academic Hospital, Pretoria, South Africa.

Background: Sebaceous carcinoma (SC) is a rare aggressive cutaneous malignant tumour. It accounts for less than 1 % of all cutaneous malignant tumours. Sebaceous carcinomas are divided into ocular and extraocular constituting 75 % and 25 % respectively. Read More

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http://dx.doi.org/10.1016/j.ijscr.2019.11.054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6920317PMC
December 2019
5 Reads

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

Histopathology 2020 Apr 17;76(5):640-649. Epub 2020 Mar 17.

Department of Pathology & Laboratory Medicine, The Arnie Charbonneau Cancer Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada.

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. Read More

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http://dx.doi.org/10.1111/his.14044DOI Listing

Muir-Torre Syndrome, a Rare Phenotype of Hereditary Nonpolyposis Colorectal Cancer With Cutaneous Manifestations.

ACG Case Rep J 2019 Aug 21;6(8):e00188. Epub 2019 Aug 21.

Charles E. Schmidt College of Medicine, Florida Atlantic University, Boca Raton, FL.

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http://dx.doi.org/10.14309/crj.0000000000000188DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6791636PMC

Muir-Torre Syndrome: The Importance of a Detailed Family History.

Case Rep Ophthalmol 2019 May-Aug;10(2):180-185. Epub 2019 May 23.

Casey Eye Institute, Oregon Health and Science University, Portland, Oregon, USA.

Muir-Torre syndrome, a variant of Lynch syndrome or hereditary nonpolyposis colorectal cancer, is an autosomal dominant disease characterized by skin neoplasms (sebaceous or keratoacanthomas) and visceral malignancies. Due to the rarity of the syndrome there are no firm guidelines on how and when to test patients with its typical skin lesions. We describe a case that highlights the importance of a detailed family history. Read More

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http://dx.doi.org/10.1159/000500662DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6760355PMC
May 2019
1 Read

Muir-Torre syndrome: sebaceous carcinoma concurrent with colon cancer in a kidney transplant recipient; a case report.

BMC Nephrol 2019 10 29;20(1):394. Epub 2019 Oct 29.

Division of Nephrology and Hypertension, Department of Internal Medicine, The Jikei University School of Medicine, 3-25-8, Nishi-shimbashi, Minato-ku, Tokyo, 105-8461, Japan.

Background: Sebaceous carcinoma is a rare but progressive malignant skin cancer, and the incidence is approximately five times higher in post-transplant patients than in people who have not received kidney transplants. Sebaceous carcinoma is sometimes found concurrently with visceral cancers and a genetic abnormality, Muir-Torre syndrome. We report the case of a female kidney transplant recipient with sebaceous carcinoma concurrent with colon cancer 10 years after transplantation. Read More

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http://dx.doi.org/10.1186/s12882-019-1592-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6819420PMC
October 2019
1 Read

Ocular Adnexal Adenomatoid Sebaceous Gland Hyperplasia: A Clinical and Immunopathologic Analysis in Relation to the Muir-Torre Syndrome.

Ophthalmic Plast Reconstr Surg 2020 Jan/Feb;36(1):e6-e12

Department of Plastic Surgery, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, U.S.A.

The purpose of this study is to codify the microscopic diagnostic criteria for ocular adnexal brow and caruncular sebaceous gland hyperplasias (pseudoadenomatoid) that distinguish it from an adenoma. Clinical records and photographs were critically reviewed and microscopic slides were stained with hematoxylin and eosin and immunochemically stained for adipophilin, androgen receptor, p16, p53, a spectrum of cytokeratins, Ki-67 and mismatch repair nuclear protein expression for MLH1, MSH2, PMS2, and MSH6. The patients and their close relatives had no history of cancer. Read More

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http://dx.doi.org/10.1097/IOP.0000000000001497DOI Listing
October 2019
1 Read

Cutaneous Metastases in a Patient With Muir-Torre Syndrome.

Dermatol Surg 2019 Sep 24. Epub 2019 Sep 24.

Division of Dermatologic Surgery and Cutaneous Oncology Department of Dermatology Indiana University School of Medicine Indianapolis, Indiana Division of Dermatology University of California Los Angeles School of Medicine Los Angeles, California Department of Dermatology Indiana University School of Medicine Indianapolis, Indiana Department of Pathology Indiana University School of Medicine Indianapolis, Indiana Division of Dermatologic Surgery and Cutaneous Oncology Department of Dermatology Indiana University School of Medicine Indianapolis, Indiana.

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http://dx.doi.org/10.1097/DSS.0000000000002158DOI Listing
September 2019
1 Read

Intraductal sebaceous papilloma of a meibomian gland: a new entity possibly associated with the MSH6 subtype of the Muir-Torre syndrome.

Surv Ophthalmol 2020 Mar - Apr;65(2):227-238. Epub 2019 Sep 23.

Department of Ophthalmic Pathology, Wills Eye Hospital, Sidney Kimmel Medical College of Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

Over several months, a painless, multinodular, non-erythematous swelling of the deep tissues of his left upper eyelid developed in a 63-year-old man. An excisional biopsy with histopathologic evaluation disclosed a unique sebaceous papilloma within a cyst lined by non-keratinizing squamous epithelium that focally displayed a variably thick, superficial, eosinophilic cuticular layer. Immunohistochemical staining demonstrated that the tumor and its epithelial cystic lining had a profile consistent with Meibomian gland duct epithelium. Read More

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http://dx.doi.org/10.1016/j.survophthal.2019.09.002DOI Listing
September 2019
2 Reads

Sebaceous carcinoma: controversies and their evidence for clinical practice.

Arch Dermatol Res 2020 Jan 30;312(1):25-31. Epub 2019 Aug 30.

Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.

Sebaceous carcinoma (SC) is a potentially aggressive malignancy of periocular or extraocular skin. It arises sporadically or is associated with Muir-Torre syndrome (MTS). Here, we review three controversial clinical conundra related to the diagnosis and treatment of SC and offer evidence-based recommendations. Read More

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http://link.springer.com/10.1007/s00403-019-01971-4
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http://dx.doi.org/10.1007/s00403-019-01971-4DOI Listing
January 2020
4 Reads

[Hereditary colon cancer in Lynch syndrome/HNPCC syndrome in Germany].

Pathologe 2019 Nov;40(6):584-591

Institut für Pathologie, Medizinische Fakultät und Uniklinik Köln, Universität Köln, Kerpener Str. 62, 50937, Köln, Deutschland.

Background: Hereditary nonpolyposis colorectal cancer (Lynch/HNPCC syndrome) is based on a germline mutation inducing increased occurrence of colorectal cancer and extracolonic carcinomas in young age. The German HNPCC consortium aims to increase awareness for detection of hereditary colon cancer among patients and physicians.

Objectives: Reliable detection of HNPCC patients is based on a thorough documentation of patients' medical history and on further diagnostics delivered by human genetics and surgical pathology. Read More

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http://dx.doi.org/10.1007/s00292-019-0643-yDOI Listing
November 2019
4 Reads

Lynch syndrome with exclusive skin involvement: time to consider a molecular definition?

Fam Cancer 2019 10;18(4):421-427

Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Genetica Medica, Rome, Italy.

Muir-Torre syndrome (MTS) is clinically characterized by the occurrence of skin, usually sebaceous, and visceral tumors in the same individual. The most common underlying mechanism is a constitutional defect of the mismatch repair (MMR) genes that cause Lynch syndrome (LS). Herewithin we report on a 76 years-old male patient heterozygous for a pathogenic MSH2 missense substitution who presented with a striking cutaneous phenotype in the absence of typical LS visceral tumors. Read More

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http://dx.doi.org/10.1007/s10689-019-00139-3DOI Listing
October 2019
2 Reads

Skin Biopsy in the Context of Systemic Disease.

Actas Dermosifiliogr 2019 Nov 4;110(9):710-727. Epub 2019 Jun 4.

Servicio de Anatomía Patológica, Hospital El Bierzo, Ponferrada, León, España; Instituto de Investigación Biomédica de A Coruña, Grupo de Investigación CellCOM-SB, A Coruña, España; Servicio de Anatomía Patológica, Hospital de la Reina, Ponferrada, León, España. Electronic address:

The skin is the largest and most exposed organ in the human body and the ideal place to look for signs that aid in the early diagnosis of systemic diseases with cutaneous effects. As the concepts that underpin our understanding of many of these diseases have evolved or expanded in recent years, there have also been changes in the criteria we use for early diagnosis, including our approaches to skin biopsy and dermatopathologic evaluation. This review focuses on some of the systemic processes with skin manifestations for which our basic understanding has changed most in recent decades. Read More

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http://dx.doi.org/10.1016/j.ad.2019.02.012DOI Listing
November 2019
11 Reads

Tumor mutational signatures in sebaceous skin lesions from individuals with Lynch syndrome.

Mol Genet Genomic Med 2019 07 4;7(7):e00781. Epub 2019 Jun 4.

Colorectal Oncogenomics Group, Department of Clinical Pathology, The University of Melbourne, Parkville, Vic., Australia.

Background: Muir-Torre syndrome is defined by the development of sebaceous skin lesions in individuals who carry a germline mismatch repair (MMR) gene mutation. Loss of expression of MMR proteins is frequently observed in sebaceous skin lesions, but MMR-deficiency alone is not diagnostic for carrying a germline MMR gene mutation.

Methods: Whole exome sequencing was performed on three MMR-deficient sebaceous lesions from individuals with MSH2 gene mutations (Lynch syndrome) and three MMR-proficient sebaceous lesions from individuals without Lynch syndrome with the aim of characterizing the tumor mutational signatures, somatic mutation burden, and microsatellite instability status. Read More

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http://dx.doi.org/10.1002/mgg3.781DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6625139PMC
July 2019
20 Reads

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

J Cutan Pathol 2019 Jul 26;46(7):484-489. Epub 2019 Apr 26.

Division of Dermatopathology, Bay Dermatology and Cosmetic Surgery, Spring Hill, Florida.

Background: 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). Read More

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http://dx.doi.org/10.1111/cup.13459DOI Listing
July 2019
30 Reads
1.560 Impact Factor

Successful Treatment of Generalized Eruptive Keratoacanthoma of Grzybowski with Acitretin.

Dermatol Ther (Heidelb) 2019 Jun 21;9(2):383-388. Epub 2019 Feb 21.

Department of Dermatology, Saint-Louis Hospital, AP-HP, INSERM U976, University of Paris 7 Paris Diderot, Paris, France.

Introduction: Keratoacanthomas (KA) are common cutaneous skin tumors originating from the hair follicles. Unlike squamous cell carcinoma, KA can regress spontaneously and have a benign evolution. Solitary KA is the most common form but familial multiple KA (Ferguson-Smith type), genetically predisposed KA (such as in xeroderma pigmentosum, or Muir-Torre syndrome), or sporadic multiple eruptive KA (Grzybowski type) have been described. Read More

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http://dx.doi.org/10.1007/s13555-019-0287-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6522604PMC
June 2019
37 Reads

Just another chalazion?

Indian J Ophthalmol 2019 Feb;67(2):195

Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, PA, USA.

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http://dx.doi.org/10.4103/ijo.IJO_18_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6376835PMC
February 2019
7 Reads

Multiple benign adnexal tumours: Anything but benign.

Australas J Dermatol 2019 Aug 22;60(3):234-236. Epub 2019 Jan 22.

St Vincent's Hospital, Sydney, New South Wales, Australia.

Muir Torre syndrome is an autosomal dominant disorder characterised by germline mutations in mismatch repair genes involved in DNA repair, leading to microsatellite instability and a propensity to tumour formation. We report a case of a 67-year-old gentleman who underwent biopsy of a smooth nodular lesion on the nasal tip, histopathologically consistent with sebaceous adenoma. Immunohistochemistry suggested a loss of MSH6. Read More

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http://doi.wiley.com/10.1111/ajd.12989
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http://dx.doi.org/10.1111/ajd.12989DOI Listing
August 2019
49 Reads

Skin Cancer Associated Genodermatoses: A Literature Review.

Acta Derm Venereol 2019 Apr;99(4):360-369

Department of Dermatology and Allergy Centre, Odense University Hospital, DK-5000 Odense, Denmark.

Skin cancer has become the most common type of cancer worldwide as a result of environmental exposure and medical treatments. A small group of patients are genetically predisposed to skin cancer and this article is intended as a diagnostic tool when encountering patients with multiple skin cancer lesions. The disorders are described with clinical characteristics, genetics and management. Read More

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http://dx.doi.org/10.2340/00015555-3123DOI Listing
April 2019
37 Reads

A squamous cell carcinoma in a young woman with Lynch syndrome.

Fam Cancer 2019 04;18(2):193-196

Department of Dermatology, Academic Medical Centre, Amsterdam, The Netherlands.

Lynch syndrome (LS) is an autosomal-dominant inherited disorder characterized by a predisposition to colorectal cancer and extracolonic cancers (particularly endometrium, ovary, stomach, small bowel, hepatobiliary tract, pancreas, urothelial tract, brain, and skin). Muir-Torre syndrome (MTS) is considered a phenotypical variant of LS, where patients develop sebaceous neoplasms and keratoacanthomas. Currently, only few studies and case reports suggest an association between LS and other skin cancers, such as Bowens' disease, melanoma and squamous cell carcinoma (SCC). Read More

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http://dx.doi.org/10.1007/s10689-018-00113-5DOI Listing
April 2019
13 Reads

Clinico-pathological predictors of mismatch repair deficiency in sebaceous neoplasia: A large case series from a single Australian private pathology service.

Australas J Dermatol 2019 May 2;60(2):126-133. Epub 2018 Dec 2.

Department of Clinical Pathology, Colorectal Oncogenomics Group, The University of Melbourne, Parkville, Victoria, Australia.

Background/objectives: Loss of expression of mismatch repair (MMR) proteins is frequently observed in sebaceous skin lesions and can be a herald for Lynch syndrome. The aim of this study was to identify clinico-pathological predictors of MMR deficiency in sebaceous neoplasia that could aid dermatologists and pathologists in determining which sebaceous lesions should undergo MMR immunohistochemistry (IHC).

Methods: An audit of sebaceous skin lesions (excluding hyperplasia) where pathologist-initiated MMR IHC was performed between January 2009 to December 2016 was undertaken from a single pathology practice identifying 928 lesions from 882 individuals. Read More

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http://doi.wiley.com/10.1111/ajd.12958
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http://dx.doi.org/10.1111/ajd.12958DOI Listing
May 2019
51 Reads

Muir-Torre Syndrome With a Frame-shift Mutation in the MSH2 Gene: A Rare Case Report and Literature Review.

Int J Gynecol Pathol 2018 Dec 3. Epub 2018 Dec 3.

Department of Pathology, Wuhan University Zhongnan Hospital, and Wuhan University Center for Pathology and Molecular Diagnostics (Q.C., Z.X., S.T., S.X.) Department of Pathology, Hubei Cancer Hospital (Manxiang W., S.J., Mingwei W.), Wuhan, Hubei Province, China Department of Pathology, University of Chicago, Chicago, Illinois (S.X.).

Muir-Torre syndrome is a rare subtype of Lynch syndrome characterized by coincidence of skin neoplasm and visceral malignancies. Here, we report a case of this rare disease, whose diagnosis of the syndrome was first suspected by the pathologist. This was a 60-yr-old woman who presented with an axillary skin nodule, which was diagnosed as basal cell carcinoma. Read More

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http://dx.doi.org/10.1097/PGP.0000000000000572DOI Listing
December 2018
9 Reads

Cutaneous sebaceous tumours and Lynch syndrome: long-term follow-up of 60 patients.

Clin Exp Dermatol 2019 Jul 14;44(5):506-511. Epub 2018 Nov 14.

Department of Dermatology, Hospital Universitari de Bellvitge, IDIBELL, Universitat de Barcelona, Barcelona, Spain.

Background: Sebaceous neoplasms (SN) may appear sporadically in the general population but may also be part of the Muir-Torre variant of Lynch syndrome (MT-LS). There are few studies in southern Europe on the incidence of MT-LS in the population of patients with SN.

Aim: To retrospectively review patients with SN and to analyse their clinical features and the incidence of MT-LS. Read More

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http://dx.doi.org/10.1111/ced.13828DOI Listing
July 2019
6 Reads

Sebaceous carcinoma arising within an ovarian mature cystic teratoma: A case report with discussion of clinical management and genetic evaluation.

Gynecol Oncol Rep 2018 Nov 29;26:37-40. Epub 2018 Aug 29.

Department of Pathology, Cedars-Sinai Medical Center, United States.

Sebaceous carcinomas are rare tumors, with the majority of described cases occurring within the eyelid. To date, there are nine documented reports of sebaceous carcinoma arising within a mature cystic teratoma of the ovary. Although the majority of cases originate from idiopathic mutations, there exists a strong association between this rare tumor and hereditary syndromes of DNA mismatch repair deficiency, such as Lynch syndrome and the lesser-known Muir-Torre syndrome. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S23525789183008
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http://dx.doi.org/10.1016/j.gore.2018.08.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6138851PMC
November 2018
26 Reads

Sebaceous Carcinoma in Situ Masquerading Clinically and Histologically as Paget Disease of the Breast.

S D Med 2018 Aug;71(8):350-353

Department of Pathology, University of South Dakota Sanford School of Medicine, Sioux Falls, South Dakota.

Sebaceous carcinoma in situ is a poorly understood and ill-defined entity. In situ sebaceous carcinoma exhibits a similar location pattern to its invasive counterpart in that most commonly has a periorbital distribution. Review of the literature found only seven cases of extraocular sebaceous carcinoma in situ. Read More

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August 2018
19 Reads

Lynch syndrome - Muir-Torre variant: implication in gynecologic oncology.

J Gynecol Oncol 2018 09;29(5):e84

Department of Gynecologic Oncology, IRCCS National Cancer Institute, Milan, Italy.

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http://dx.doi.org/10.3802/jgo.2018.29.e84DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6078896PMC
September 2018
7 Reads

[Muir-Torre syndrome].

Ugeskr Laeger 2018 Jul;180(27)

Muir-Torre syndrome (MTS) is an autosomal dominant disease with approximately 200 reported cases worldwide, which is characterised by multiple neoplasms of the skin and internal organs. This is a case report of a 57-year-old woman with MTS, who was referred to a plastic surgery department from a gastroenterology department due to a neoplasm of the skin. After treatment, she was referred to a dermatology department for follow-up. Read More

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July 2018
11 Reads

Muir-Torre Syndrome: A Case Report in a Woman Without Personal Cancer History.

Am J Dermatopathol 2019 Jan;41(1):55-59

Departments of Dermatology, and.

We report a case of a 68-year-old white woman presenting with 5 sebaceous neoplasms, ranging from sebaceous adenoma to sebaceoma on histopathology. Despite the lack of a personal cancer history, her multiple sebaceous neoplasms and a paternal history of colon cancer prompted testing her sebaceous adenomas for microsatellite instability (MSI) by immunohistochemistry. The results showed retained nuclear expressions of MLH1 and PMS2 while MSH2 and MSH6 proteins were absent. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001210DOI Listing
January 2019
36 Reads

Sebaceous Neoplasms With Rippled, Labyrinthine/Sinusoidal, Petaloid, and Carcinoid-Like Patterns: A Study of 57 Cases Validating Their Occurrence as a Morphological Spectrum and Showing No Significant Association With Muir-Torre Syndrome or DNA Mismatch Repair Protein Deficiency.

Am J Dermatopathol 2018 Jul;40(7):479-485

Department of Pathology, Charles University in Prague, Faculty of Medicine in Pilsen, Pilsen, Czech Republic.

Sebaceous neoplasms with an organoid pattern (rippled, labyrinthine/sinusoidal, carcinoid-like, and petaloid) are rare. Previous studies suggested that the above patterns likely represent variations along a morphological continuum. The objectives of this study were to (1) validate this proposition by studying a large number of cases, (2) determine whether there are specific associations with clinical features, (3) establish their frequency, and (4) determine whether they have any association with Muir-Torre syndrome. Read More

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http://dx.doi.org/10.1097/DAD.0000000000001067DOI Listing
July 2018
34 Reads

Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome.

Case Rep Pathol 2018 24;2018:5947870. Epub 2018 Apr 24.

Department of Pathology, UAB, Birmingham, AL, USA.

Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant genetic disorder characterized by a predisposition towards colorectal carcinoma and other extracolonic neoplasms. Histiocytic sarcoma (HS) is a very rare hematologic neoplasm characterized by a malignant proliferation of cells with histiocytic differentiation. We present the case of a 62-year-old male with previous diagnosis of MTS who presented with metastatic colorectal adenocarcinoma, bilateral papillary renal cell carcinoma, and a new squamous cell carcinoma of the scalp, treated with resection and adjuvant radiation therapy. Read More

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http://dx.doi.org/10.1155/2018/5947870DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941799PMC
April 2018
11 Reads

Muir-Torre syndrome.

Rev Clin Esp 2019 Jan - Feb;219(1):51-52. Epub 2018 May 19.

Servicio de Dermatología, Hospital Clínico Universitario de Valladolid, Valladolid, España.

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http://dx.doi.org/10.1016/j.rce.2018.04.004DOI Listing
May 2018
3 Reads

Prevalence and molecular characteristics of DNA mismatch repair protein-deficient sebaceous neoplasms and keratoacanthomas in a Japanese hospital-based population.

Jpn J Clin Oncol 2018 Jun;48(6):514-521

Department of Digestive Tract and General Surgery, Saitama Medical Center, Saitama Medical University.

Background: Muir-Torre syndrome (MTS) is currently considered as a clinical variant of Lynch syndrome (LS). The clinical significance of the screening of patients with MTS-associated cutaneous tumors for the identification of LS has not yet been established. In addition, the prevalence and molecular characteristics of mismatch repair (MMR) protein deficiency in such tumors has scarcely been investigated in the Japanese population. Read More

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http://dx.doi.org/10.1093/jjco/hyy055DOI Listing
June 2018
40 Reads

Impact of Muir-Torre Syndrome on Survival in Patients With Sebaceous Carcinoma: A SEER Population-Based Study.

Dermatol Surg 2019 01;45(1):148-149

Department of Dermatology Case Western Reserve University School of Medicine, Cleveland, Ohio Department of Dermatology, University Hospitals Cleveland Medical Center, Cleveland, Ohio.

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http://dx.doi.org/10.1097/DSS.0000000000001503DOI Listing
January 2019
10 Reads

Sebaceous carcinoma of the breast in a patient with a pathogenic BRCA2 (886delGT) mutation - focus on histopathologic and immunohistochemical features.

APMIS 2018 Apr;126(4):353-356

Department of Pathology, Chicago Medical School, North Chicago, IL, USA.

Sebaceous carcinoma of the breast (SCB) is a rare variant of ductal carcinoma arising within the mammary gland and containing at least 50% of malignant cells with sebaceous differentiation. Only 11 cases that adjust to the criteria delineated in the WHO classification have been published in the English literature, to the best of our knowledge. Here, we present the first SCB arising in the context of a deleterious BRCA2 mutation, focusing on the histopathologic and immunohistochemical features of this exceedingly rare tumor. Read More

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http://dx.doi.org/10.1111/apm.12826DOI Listing
April 2018
13 Reads

Cumulative risk of skin tumours in patients with Lynch syndrome.

Br J Dermatol 2018 08 29;179(2):522-523. Epub 2018 May 29.

Department of Gastroenterology, Netherlands Cancer Institute, Amsterdam, the Netherlands.

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http://dx.doi.org/10.1111/bjd.16552DOI Listing

Lynch Syndrome and Muir-Torre Syndrome: An update and review on the genetics, epidemiology, and management of two related disorders.

Dermatol Online J 2017 Nov 15;23(11). Epub 2017 Nov 15.

Albert Einstein College of Medicine, Bronx, New York.

Hereditary Nonpolyposis Colorectal Cancer (HNPCC), also known as Lynch Syndrome, is an autosomal dominant, tumor predisposing disorder usuallycaused by germline mutations in mismatch repair (MMR) genes. A subset of HNPCC, Muir-Torre Syndrome (MTS) also involves MMR gene defects and is generally accepted as a variant of HNPCC. MTS is typicallycharacterized by at least one visceral malignancy and one cutaneous neoplasm of sebaceous differentiation, with or without keratoacanthomas. Read More

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November 2017
18 Reads

Therapy-associated myelodysplastic syndrome with monosomy 7 arising in a Muir-Torre Syndrome patient carrying mutation.

Mol Clin Oncol 2018 Feb 8;8(2):306-309. Epub 2017 Dec 8.

Department of Pathology, University of Alabama at Birmingham, Birmingham, AL 35233, USA.

Muir-Torre Syndrome (MTS) is a rare hereditary autosomal dominant cancer syndrome and is linked to hereditary non-polyposis colorectal carcinoma (Lynch Syndrome). Individuals develop various skin neoplasms in addition to colorectal, endometrial and upper gastrointestinal malignancies. Therapy-associated myelodysplastic syndrome (T-MDS) is an aggressive hematologic malignancy and is considered a pre-leukemic phase. Read More

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http://dx.doi.org/10.3892/mco.2017.1532DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5776424PMC
February 2018
21 Reads

Evaluation of universal immunohistochemical screening of sebaceous neoplasms in a service setting.

Clin Exp Dermatol 2018 Jun 14;43(4):410-415. Epub 2018 Jan 14.

East Anglian Medical Genetics Service, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.

Background: Muir-Torre syndrome (MTS) is a subtype of Lynch syndrome, which encompasses the combination of sebaceous skin tumours or keratoacanthomas and internal malignancy, due to mutations in DNA mismatch repair genes. Sebaceous neoplasms (SNs) may occur before other malignancies, and may lead to the diagnosis, which allows testing of other family members, cancer surveillance, risk-reducing surgery or prevention therapies.

Aim: To evaluate the efficacy of universal immunohistochemistry (IHC) screening of SNs in a service setting. Read More

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http://dx.doi.org/10.1111/ced.13359DOI Listing
June 2018
13 Reads

Sebaceous tumours: more than skin deep.

Gut 2018 11 15;67(11):1957. Epub 2017 Dec 15.

Department of Dermatology Venerology and Allergology, University Hospital Essen, Essen, Germany.

CLINICAL PRESENTATION: A 77-year-old man presented to our skin cancer centre with various cutaneous tumours occurring in 2006-2017. Histopathology showed a 'hidradenocarcinoma' on the left upper back (2006) and a sebaceous adenoma (figure 1) on the left shoulder (2011). In 2017, he developed a sebaceous carcinoma on the middle upper back, which manifested as a slowly enlarging, asymptomatic nodule. Read More

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http://gut.bmj.com/lookup/doi/10.1136/gutjnl-2017-315472
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http://dx.doi.org/10.1136/gutjnl-2017-315472DOI Listing
November 2018
46 Reads