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    MSH6, Past and Present and Muir-Torre Syndrome-Connecting the Dots.
    Am J Dermatopathol 2017 Apr;39(4):239-249
    Dermatopathology Section Chief, Dermatopathology Section, Department of Pathology and Laboratory Medicine (113), VA Consolidated Laboratories, West Roxbury, MA.
    Sebaceous neoplasms such as adenoma, sebaceoma, and carcinoma, although sporadic in their occurrence, are clinically significant because of their association with Muir-Torre syndrome (MTS). MTS is a rare autosomal dominant genodermatosis characterized by the occurrence of sebaceous neoplasms and/or keratoacanthomas and visceral malignancies. MTS is usually the result of germline mutations in the DNA mismatch repair genes MSH2 and, albeit less commonly, MLH1. Read More

    [Muir-Torre syndrome and Turcot syndrome].
    Ann Dermatol Venereol 2017 Feb 27. Epub 2017 Feb 27.
    Clinique dermatologique, hôpitaux universitaires de Strasbourg, université de Strasbourg, 1, place de l'Hôpital, 67091 Strasbourg, France.
    Introduction: Lynch syndrome (LS) is a syndrome that carries a genetic predisposition to certain cancers associating, either in a single individual or in a family, a visceral tumour, mainly colorectal, with a high risk of other synchronous or metachronous cancers. LS is linked with mutations in the genes coding for proteins in the DNA repair system. Phenotypic variants of SL exist, including Muir-Torre syndrome (MTS) and Turcot syndrome (TS), both of which predispose to colorectal cancer. Read More

    Sebaceous adenoma arising in mature cystic teratoma of the ovary. Case report.
    Cesk Patol 2017 ;53(1):35-37
    We report the case of a 44-year-old female with sebaceous adenoma arising in mature cystic teratoma of the ovary. The patient had a tumor in the left ovary; 125 x 90 x 70 mm. Microscopically, the tumor consisted of structures typical of dermoid cysts. Read More

    Sebaceous carcinoma in solid organ transplant recipients.
    Int J Dermatol 2017 Feb 8. Epub 2017 Feb 8.
    Mayo Clinic Arizona, Scottsdale, AZ, USA.
    Background: Though a rare tumor, sebaceous carcinoma is relatively well-described in immunocompetent patients, in whom it often occurs in a periorbital distribution where it has an overall poor prognosis with a high metastasis rate. The effect of transplant-related immunosuppression on the development of sebaceous carcinoma and its outcomes has not been characterized.

    Methods: We collected 9 cases from a single institution of patients developing sebaceous carcinoma after solid organ transplantation. Read More

    Sebaceous Carcinoma Treated With Mohs Micrographic Surgery.
    Dermatol Surg 2017 Feb;43(2):281-286
    *Department of Dermatology, Roswell Park Cancer Institute, Buffalo, New York;†Division of Dermatology, Washington University School of Medicine, St. Louis, Missouri.
    Background: Sebaceous carcinoma is a rare and potentially aggressive adnexal neoplasm with historic data indicating high rates of recurrence, metastasis, and cancer-specific mortality.

    Objective: To evaluate the incidence of local recurrence, metastasis, disease-specific mortality, and all-cause mortality and to identify work-up approaches.

    Patients And Methods/materials: Retrospective review of patients with sebaceous carcinoma treated with Mohs micrographic surgery between 2001 and 2013 at one institution. Read More

    Muir-Torre syndrome caused by exonic deletion of MLH1 due to homologous recombination.
    Eur J Dermatol 2017 Feb;27(1):54-58
    Department of Dermatology, Sapporo Medical University School of Medicine, Sapporo, Japan.
    Background: Muir-Torre syndrome (MTS) is characterized by sebaceous neoplasms with internal malignancies and regarded as a variant of hereditary nonpolyposis colorectal cancer (HNPCC). Pathogenic variations of MTS have been identified in the MSH2, MLH1, and MSH6 genes, with the majority of variations located in MSH2.

    Objectives: To present an MTS patient who was the only individual with skin malignancies within a cancer-prone pedigree and to show the usefulness of RNA-based genetic analysis in the investigation of MTS. Read More

    An Overview of Autosomal Dominant Tumour Syndromes with Prominent Features in the Oral and Maxillofacial Region.
    Head Neck Pathol 2017 Jan 21. Epub 2017 Jan 21.
    Department of Histopathology, King's College Hospital, London, SE5 9R, UK.
    Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome). In some syndromes, the disease is multisystem with skin index lesions presenting in the head and neck (Cowden syndrome and tuberous sclerosis complex). Read More

    Cutaneous Sebaceous Lesions in a Patient With MUTYH-Associated Polyposis Mimicking Muir-Torre Syndrome.
    Am J Dermatopathol 2016 Dec;38(12):915-923
    *Sikl's Department of Pathology, Medical Faculty in Pilsen, Charles University in Prague, Prague, Czech Republic; †Bioptical Laboratory, Pilsen, Czech Republic; and ‡Department of Dermatology, Regional Hospital, Sumperk, Czech Republic.
    A 76-year-old white male with a history of adenocarcinoma of the rectosigmoideum and multiple colonic polyps removed at the age of 38 and 39 years by an abdominoperitoneal amputation and total colectomy, respectively, presented with multiple whitish and yellowish papules on the face and a verrucous lesion on the trunk. The lesions were surgically removed during the next 3 years and a total of 13 lesions were investigated histologically. The diagnoses included 11 sebaceous adenomas, 1 low-grade sebaceous carcinoma, and 1 squamous cell carcinoma. Read More

    Unusual Presentation of Ulcerative Postauricular Swelling as Sebaceous Cell Carcinoma.
    Niger J Surg 2016 Jul-Dec;22(2):127-129
    Department of General Surgery, Government Medical College, Patiala, Punjab, India.
    Sebaceous glands have high concentration over head and neck region. Despite high concentration, sebaceous cell adenoma and carcinomas are infrequent. Sebaceous cell carcinoma is an uncommon, cutaneous aggressive tumor arising from the sebaceous glands and seen almost exclusively on the eyelids (75%). Read More

    Clinicopathological study of 47 cases of sebaceoma.
    Ann Dermatol Venereol 2016 Dec 9;143(12):814-824. Epub 2016 Nov 9.
    Clinique dermatologique, faculté de médecine, université de Strasbourg, hôpitaux universitaires de Strasbourg, hôpital civil, 1, place de l'Hôpital, BP 426, 67091 Strasbourg cedex, France.
    Background: Sebaceoma is a rare and poorly understood form of sebaceous tumour, and it is of great significance since it may reveal Muir-Torre syndrome (MTS). Herein, we present a series of cases with details of the histopathological appearance.

    Patients And Methods: We examined records of cases labelled as sebaceous tumour recorded at the Strasbourg Dermatopathology Laboratory between 1991 and 2015. Read More

    Generational Expression of Muir-Torre Syndrome in a Canadian Family.
    Case Rep Dermatol Med 2016 16;2016:1712527. Epub 2016 Oct 16.
    Department of Biomolecular Sciences, Laurentian University, 935 Ramsey Lake Road, Sudbury, ON, Canada.
    Muir-Torre syndrome (MTS) is a rare autosomal dominant inherited genodermatosis that is considered to be a phenotypic subtype of hereditary nonpolyposis colorectal cancer (HNPCC), commonly referred to as Lynch syndrome. We describe the clinical course of a 57-year-old female patient with MTS. She has a confirmed HMSH2 mutation. Read More

    [Muir-Torre syndrome associated with Waldenstrom's macroglobulinemia].
    Ann Dermatol Venereol 2016 Dec 19;143(12):825-830. Epub 2016 Oct 19.
    Clinique dermatologique, université de Strasbourg, hôpitaux universitaires de Strasbourg, 1, place de l'Hôpital, 67000 Strasbourg, France.
    Background: Muir-Torre syndrome (MTS), a cutaneous variant of Lynch syndrome, consists of hereditary predisposition to cutaneous tumours and gastrointestinal and gynaecological neoplasms, with autosomal dominant transmission. It is associated with mutations in genes coding for proteins in the DNA mismatch repair system.

    Patients And Methods: Herein, we report a case of a male patient presenting Waldenstrom's macroglobulinemia since the age of 50 and which, after the age of 65 years, developed into sebaceous tumours (5 sebaceous adenomas, 1 sebaceoma, 1 sebaceous carcinoma) and colonic lesions (4 adenomas). Read More

    Upper tract urothelial carcinomas: frequency of association with mismatch repair protein loss and lynch syndrome.
    Mod Pathol 2017 Jan 7;30(1):146-156. Epub 2016 Oct 7.
    Robert J. Tomsich Pathology and Laboratory Medicine Institute, Cleveland Clinic, Cleveland, OH, USA.
    Increased risk for upper tract urothelial carcinoma is described in patients with Lynch syndrome, caused by germline mutations in mismatch repair genes. We aimed to identify the frequency of mismatch repair protein loss in upper tract urothelial carcinoma and its potential for identifying an association with Lynch syndrome. We queried our database to identify upper tract urothelial carcinomas. Read More

    Next-generation sequencing identifies high frequency of mutations in potentially clinically actionable genes in sebaceous carcinoma.
    J Pathol 2016 Sep;240(1):84-95
    Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
    Sebaceous carcinoma (SC) is a rare but aggressive malignancy with frequent recurrence and metastases. Surgery is the mainstay of therapy, but effective systemic therapies are lacking because the molecular alterations driving SC remain poorly understood. To identify these, we performed whole-exome next-generation sequencing of 409 cancer-associated genes on 27 SCs (18 primary/locally recurrent ocular, 5 paired metastatic ocular, and 4 primary extraocular) from 20 patients. Read More

    Nuclear factor XIIIa staining (clone AC-1A1 mouse monoclonal) is a highly sensitive marker of sebaceous differentiation in normal and neoplastic sebocytes.
    J Cutan Pathol 2016 Aug 14;43(8):657-62. Epub 2016 Jun 14.
    Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Background: Sebaceous proliferations are common and may be confused with other cutaneous neoplasms. Few useful or specific immunohistochemical markers for sebaceous differentiation are available. We incidentally observed strong factor XIIIa (Ventana clone AC-1A1 on Ventana Benchmark Ultra stainer) nuclear staining in normal sebaceous glands and hypothesized that this might be a useful marker in sebaceous proliferations. Read More

    [Lynch syndrome, Muir Torre variant: 2 cases].
    Rev Gastroenterol Peru 2016 Jan-Mar;36(1):81-5
    Instituto Nacional de Enfermedades Neoplásicas. Lima, Perú; Universidad Peruana Cayetano Heredia. Lima, Perú.
    Lynch syndrome (LS) is an autosomal-dominant inherited cancer predisposition syndrome caused by germline mutations in DNA mismatch repair genes (MLH1, MSH2, MSH6 or PMS2). Muir-Torre syndrome (MTS) is a phenotypic variant of LS that includes a predisposition to sebaceous glands tumors and keratoacanthomas. We report two patients with MTS, with more than one LS-related cancer, skin lesions, family history of cancer andmicrosatellite instability and immunohistochemistry analysis. Read More

    Urothelial Carcinoma Recurrence in an Ileal Neobladder Nine Years after Primary Surgery with Muir-Torre Syndrome.
    Case Rep Urol 2016 30;2016:4762514. Epub 2016 Mar 30.
    Department of Surgery and Urology, Riviera-Chablais Hospital, 1820 Montreux, Switzerland.
    We report a patient who presented with a urothelial carcinoma recurrence developed nine years after radical cystoprostatectomy, related to Muir-Torre syndrome. Read More

    Role of microsatellite instability, immunohistochemistry and mismatch repair germline aberrations in immunosuppressed transplant patients: a phenocopy dilemma in Muir-Torre syndrome.
    Clin Chem Lab Med 2016 Nov;54(11):1725-1731
    Sebaceous tumours and keratoacanthomas are uncommon neoplasms that constitute important clinical criteria for Muir-Torre syndrome (MTS) diagnosis. In MTS patients, the increased risk of developing synchronous or metachronous visceral malignancies is characterised by autosomal dominant inheritance. However, there are further conditions, other than MTS, that increase the risk of sebaceous neoplasms, e. Read More

    Muir-Torre Syndrome: A Case Associated with an Infrequent Gene Mutation.
    J Clin Aesthet Dermatol 2016 Jan;9(1):56-9
    Oakwood Healthcare System, Trenton, Michigan.
    Muir-Torre syndrome is a rare, autosomal dominant genodermatosis characterized by the presence of at least one sebaceous gland neoplasm, associated with an underlying visceral malignancy. Muir-Torre syndrome is believed to be a subtype of Lynch Syndrome. Affected individuals are found to have germline mutations predominantly in DNA mismatch repair gene MSH2, and much less frequently, MLH1. Read More

    Muir-Torre Syndrome Presenting as Sebaceous Adenocarcinoma and Invasive MSH6-Positive Colorectal Adenocarcinoma.
    Case Rep Oncol 2016 Jan-Apr;9(1):95-9. Epub 2016 Feb 4.
    Department of Medicine, Raritan Bay Medical Center, Perth Amboy, N.J., USA.
    Muir-Torre syndrome (MTS) is a rare genodermatosis, diagnosed by the presence of sebaceous neoplasms along with an internal malignancy, most commonly colorectal carcinomas. MTS is most commonly caused by microsatellite instabilities of the hMLH1 and hMSH2 mismatch repair genes, and is rarely caused by mutations of the hMSH6 gene. We describe the case of a 56-year-old male who presented with an enlarging mass on his back as well as hematochezia. Read More

    Sebaceous carcinoma on the abdomen in an African-American male patient.
    Indian Dermatol Online J 2015 Dec;6(Suppl 1):S27-9
    Department of Dermatology, Walter Reed National Military Medical Center, Maryland, USA.
    Sebaceous carcinoma is a rare, aggressive cutaneous tumor most commonly involving the head and neck, especially the periorbital area. It has been associated with Muir-Torre syndrome, human papillomavirus infection, and radiotherapy. This case report describes an unusual clinical presentation of a large sebaceous carcinoma on the abdomen of an African-American male patient who was successfully treated with Mohs micrographic surgery. Read More

    Mismatch Repair Protein Expression in Fordyce Granules.
    Appl Immunohistochem Mol Morphol 2017 Mar;25(3):209-212
    Hospital El Bierzo, Fuentesnuevas, Leon, Spain.
    Fordyce spots are a frequent condition under which sebaceous glands are found in the oral mucosa. There are 2 studies in the literature that have found an association between Fordyce spots and either Muir-Torre syndrome or Lynch syndrome. Despite this, no study on the expression of mismatch repair (MMR) proteins has been performed on biopsies of Fordyce granules. Read More

    Muir-Torre syndrome (MTS): An update and approach to diagnosis and management.
    J Am Acad Dermatol 2016 Mar;74(3):558-66
    Department of Dermatology, Rutgers-New Jersey Medical School, Newark, New Jersey; Rutgers University School of Public Affairs and Administration, Newark, New Jersey. Electronic address:
    Muir-Torre syndrome (MTS) is a rare genetic condition that predisposes individuals to skin tumors and visceral malignancies. Because of the potentially aggressive nature of internal malignancies and sebaceous carcinoma, and the tendency to have multiple low-grade visceral cancers, close cancer surveillance is required in individuals and their families with this usually autosomal dominant disorder. Although the majority of MTS is caused by mutations in DNA mismatch repair genes resulting in microsatellite instability, a newly described subtype of MTS does not demonstrate microsatellite instability and may be inherited in an autosomal recessive pattern. Read More

    Familial skin cancer syndromes: Increased risk of nonmelanotic skin cancers and extracutaneous tumors.
    J Am Acad Dermatol 2016 Mar;74(3):437-51; quiz 452-4
    Department of Dermatology, Stanford University Medical Center, Stanford, California. Electronic address:
    Nonmelanoma skin cancers (NMSCs) represent the most common malignancies worldwide, with reported incidence rising each year. Both cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC), as well as other NMSCs, represent complex diseases with a combination of environmental and genetic risk factors. In general, hereditary cancer syndromes that increase the risk of NMSC fall under several broad categories: those associated with immunodeficiencies, those that affect skin pigmentation, and those that perturb key molecular pathways involved in the pathogenesis of NMSCs. Read More

    Oral mucosal stigmata in hereditary-cancer syndromes: From germline mutations to distinctive clinical phenotypes and tailored therapies.
    Gene 2016 May 3;582(1):23-32. Epub 2016 Feb 3.
    Department of Surgical, Medical, Dental and Morphological Sciences with Interest transplant, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia, Italy.
    Numerous familial tumor syndromes are associated with distinctive oral mucosal findings, which may make possible an early diagnosis as an efficacious marker for the risk of developing visceral malignancies. In detail, Familial Adenomatous Polyposis (FAP), Gardner syndrome, Peutz-Jeghers syndrome, Cowden Syndrome, Gorlin Syndrome, Lynch/Muir-Torre Syndrome and Multiple Endocrine Neoplasia show specific lesions of the oral mucosa and other distinct clinical and molecular features. The common genetic background of the above mentioned syndromes involve germline mutations in tumor suppressor genes, such as APC, PTEN, PTCH1, STK11, RET, clearly implied in both ectodermal and mesodermal differentiation, being the oral mucosal and dental stigmata frequently associated in the specific clinical phenotypes. Read More

    Importance of universal mismatch repair protein immunohistochemistry in patients with sebaceous neoplasia as an initial screening tool for Muir-Torre syndrome.
    Hum Pathol 2016 Mar 31;49:1-9. Epub 2015 Oct 31.
    Miraca Life Sciences Research Institute, Newton, MA 02464; Tufts Medical Center, Department of Dermatology, Boston, MA 02110. Electronic address:
    Muir-Torre syndrome, a Lynch syndrome variant, is characterized by sebaceous neoplasia plus one or more malignancies, typically colon cancer. The significance of DNA mismatch repair (MMR) deficiency detection by immunohistochemistry (IHC) in colorectal carcinomas is well established and is recommended as a screening tool for Lynch syndrome in newly diagnosed colorectal carcinomas. In comparison, literature on IHC application to detect MMR proteins (MLH1, MSH2, MSH6, and PMS2) in sebaceous neoplasia has been less studied and has been derived almost exclusively from tertiary care centers. Read More

    Aggressive Extraocular Sebaceous Carcinoma of the Scalp Involving the Brain in a Patient With Muir-Torre Syndrome.
    Am J Dermatopathol 2016 Aug;38(8):618-22
    *Sikl's Department of Pathology, Charles University in Prague, Medical Faculty in Pilsen, Pilsen, Czech Republic; †Bioptical Laboratory, Pilsen, Czech Republic; ‡Department of Radiology, University of Ostrava, Medical Faculty Hospital, Ostrava, Czech Republic; and §Department of Oncology and Radiotherapy, Charles University in Prague, Medical Faculty in Pilsen, Pilsen, Czech Republic.
    This article reports an unusual case of aggressive extraocular sebaceous carcinoma located on the scalp with subsequent usurpation of the bone and penetrating through the bone and meninges to the brain in a 56-year-old man affected by Muir-Torre syndrome. Microscopically, the sebaceous neoplasm was located in the middle to deep dermis without any connection to the epidermis and showed a multinodular growth with neoplastic nodules with a central comedo-type necrosis separated from each other by fibrovascular stroma. The nodules were composed of varying proportions of mature sebaceous cells and atypical basaloid cells with high degree of atypia, including high nuclear/cytoplasmic ratio, nuclear pleomorphism, macronucleoli, atypical mitoses, and necrosis. Read More

    Management Considerations in Extraocular Sebaceous Carcinoma.
    Dermatol Surg 2016 Jan;42 Suppl 1:S57-65
    *Department of Dermatology, University of Pennsylvania, Philadelphia, Pennsylvania; †Division of Dermatologic Surgery, University of Pennsylvania, Philadelphia, Pennsylvania; ‡Department of Otorhinolaryngology, University of Pennsylvania, Philadelphia, Pennsylvania.
    Background: Extraocular sebaceous carcinoma (SC) is a rare malignancy with metastatic potential. The authors present a case of a rapidly growing extraocular SC with equivocal radiographic imaging to highlight challenges in tumor management.

    Objective: To examine the existing literature for evaluation and management recommendations of extraocular SC. Read More

    Parotid Sebaceous Carcinoma in Patient with Muir Torre Syndrome, Caused by MSH2 Mutation.
    Head Neck Pathol 2016 Sep 17;10(3):354-61. Epub 2015 Nov 17.
    Department of ENT, Frimley Park Hospital, Camberley, Surrey, UK.
    Sebaceous carcinoma of parotid gland are extremely rare with only 29 cases reported so far. The development of parotid sebaceous carcinoma in association with mutation in the mismatch repair gene that causes Muir Torre Syndrome (MTS), a subset of Lynch Syndrome, is still unclear. This study describes such a case and reviews the literature to see if an association between parotid sebaceous carcinoma and multiple visceral malignancies seen in Lynch Syndrome has ever been described. Read More

    Syndrome in question.
    An Bras Dermatol 2015 Sep-Oct;90(5):759-61
    Universidade do Estado do Rio de Janeiro, Rio de Janeiro, RJ, Brazil.
    Muir-Torre syndrome is a rare genodermatosis characterized by the occurrence of at least one sebaceous tumor associated with visceral neoplasia, but with no predisposing factors. The sebaceous neoplasm may appear before, during or after the diagnosis of colorectal cancer. As it is regarded as a subtype of nonpolyposis hereditary colorectal cancer, it is important to evaluate the patient's first-degree relatives. Read More

    [Challenges for Urologists in the Care of Patients with Lynch Syndrome: Example of A Patient with Muir-Torre Syndrome, A Subtype of Lynch Syndrome].
    Aktuelle Urol 2016 Apr 28;47(2):144-7. Epub 2015 Oct 28.
    Abteilung für Urologie, Bundeswehrkrankenhaus Ulm, Ulm.
    The Muir-Torre syndrome (MTS) is a subtype of the Lynch syndrome (hereditary nonpolyposis colorectal cancer). In addition to tumours typically related to LS, MTS is associated with tumours of the sebaceous gland or keratoacanthoma. MTS is mostly characterised by a mutation of MSH2. Read More

    JAAD Grand Rounds quiz: A subcutaneous nodule on the right shoulder.
    J Am Acad Dermatol 2015 Nov;73(5):889-91
    Taipei, Taiwan.
    Learning Objectives: At the conclusion of this learning activity, physician participants should be able to assess their own diagnostic and patient management skills and use the results of this exercise to help determine personal learning needs. Instructions: In answering each question, refer to the specific directions provided. Because it is often necessary to provide information occurring later in a series that give away answers to earlier questions, please answer the questions in each series in sequence. Read More

    [Case report: Muir-Torre syndrome diagnosed from a sebaceoma mimicking an ulcerated breast cancer].
    J Gynecol Obstet Biol Reprod (Paris) 2016 Sep 28;45(7):767-74. Epub 2015 Aug 28.
    Anatomie pathologique, New Labpatho, place Saint-Sébastien, 56, 1420 Braine-l'Alleud, Belgique.
    On the basis of a case report, we conducted a search through the literature concerning Muir-Torre syndrome. This syndrome is considered to be a phenotypic variant of Lynch syndrome (or Human Non Polyposis Colorectal Cancer). Muir-Torre syndrome is a familial cancer syndrome defined as the association of an internal malignancy with cutaneous sebaceous tumors. Read More

    The role of immunohistochemistry in the Muir-Torre Syndrome.
    An Bras Dermatol 2015 May-Jun;90(3 Suppl 1):168-70
    Universidade Federal do Amazonas, Manaus, AM, BR.
    Muir-Torre Syndrome is defined by the coexistence of sebaceous skin tumors and internal malignancies. Mutations in the DNA mismatch repair genes are found in the inherited form of the disease, resulting in the absence of crucial enzymes involved with DNA replication process. This case describes a patient with sebaceous adenoma and colorectal carcinoma, meeting the criteria for Muir-Torre Syndrome. Read More

    Unusual presentation of metastatic sebaceous carcinoma and its response to chemotherapy: is genotyping a right answer for guiding chemotherapy in rare tumours?
    Curr Oncol 2015 Aug;22(4):e316-9
    Department of Internal Medicine, Division of Hematology Oncology, Maimonides Medical Center, Brooklyn, New York, U.S.A.
    Sebaceous carcinoma is a rare malignant tumour of skin. It commonly occurs in the head and neck region. The standard of care for localized disease is wide local excision followed by radiotherapy. Read More

    [Gender-specific aspects of Lynch syndrome--an update].
    Z Gastroenterol 2015 Aug 18;53(8):789-93. Epub 2015 Aug 18.
    Department of Hereditary Tumor Syndroms; Surgical Center, HELIOS Clinic, University Witten/Herdecke; Wuppertal, Germany.
    Approximately 3-5% of all colorectal cancers are based on a hereditary predisposition, of which Lynch syndrome is by far the most frequent hereditary cancer syndrome. Beside colorectal cancer Lynch-Syndrome is the most frequent predisposing hereditary cause of endometrial cancer and is also associated with gastric cancer, ovarian cancer, cancer of the urinary tract as well as several other cancers. Genetically Lynch syndrome is caused by a germline mutation in one of the so-called mismatch-repair-genes. Read More

    Sebaceous carcinoma of the breast: report of four cases and review of the literature.
    Pol J Pathol 2015 Jun;66(2):142-8
    Marián Švajdler, Bioptická laboratoř, s.r.o., Mikulasske nam. 4, 32600 Pilsen, Czech Republic, e-mail:
    Sebaceous carcinoma of the breast is an exceedingly rare neoplasm. Little is known about the behavior and prognosis of this type of breast cancer. We report clinical, histological and immunohistochemical features of four cases of breast carcinoma with prominent (at least 50%) sebaceous differentiation. Read More

    Distinct pathways in the pathogenesis of sebaceous carcinomas implicated by differentially expressed microRNAs.
    JAMA Ophthalmol 2015 Oct;133(10):1109-16
    Orbital Oncology and Ophthalmic Plastic Surgery, Department of Plastic Surgery, University of Texas MD Anderson Cancer Center, Houston.
    Importance: The molecular-genetic alterations contributing to the pathogenesis of sebaceous carcinoma and sebaceous adenoma remain poorly understood. Given that sebaceous carcinoma is associated with substantial morbidity and mortality, there is a critical need to delineate the pathways driving sebaceous carcinoma and candidate molecules for targeted therapy.

    Objective: To describe differentially expressed microRNAs (miRNAs) in a series of periocular sebaceous carcinomas compared with sebaceous adenomas in order to identify pathways driving the pathogenesis of sebaceous carcinoma. Read More

    Hereditary Syndromes Manifesting as Endometrial Carcinoma: How Can Pathological Features Aid Risk Assessment?
    Biomed Res Int 2015 16;2015:219012. Epub 2015 Jun 16.
    Cancer Genetics Service, National Cancer Centre Singapore, Singapore 169610 ; Oncology Academic Clinical Program, Duke-NUS Graduate Medical School, Singapore 169857 ; Division of Medical Oncology, National Cancer Centre Singapore, 11 Hospital Drive, Singapore 169610.
    Endometrial carcinoma is the most common gynecological tumor worldwide. It can be the presenting malignancy, acting as the harbinger, of an undiagnosed hereditary syndrome. Up to 50% of females with Lynch syndrome present in this manner. Read More

    Muir-Torre Syndrome and founder mismatch repair gene mutations: A long gone historical genetic challenge.
    Gene 2016 Sep 2;589(2):127-32. Epub 2015 Jul 2.
    Department of Dermatology, University of Modena and Reggio Emilia, Italy.
    A "cancer predisposing syndrome" later labeled as Hereditary Non-Polyposis Colorectal Cancer (HNPCC) or Lynch Syndrome, was firstly described by Warthin, about one century ago. An increased predisposition to the development of multiple familial tumors is described as characteristic of this syndrome where visceral and cutaneous malignancies may appear at an early age namely endometrial, gastric, small bowel, ureteral and renal pelvis, ovarian, hepatobiliary tract, pancreatic, brain (Turcot Syndrome) and sebaceous glands (Muir-Torre Syndrome). The latter, a variant of Lynch Syndrome, is characterized by the presence of sebaceous skin adenomas, carcinomas and/or keratoacanthomas associated with visceral malignancies. Read More

    Family with MSH2 mutation presenting with keratoacanthoma and precancerous skin lesions.
    J Dermatol 2015 Nov 16;42(11):1087-90. Epub 2015 Jun 16.
    Division of Genomic Medicine, Medical Research Institute, Kanazawa Medical University, Kanazawa, Japan.
    Muir-Torre syndrome (MTS) is a familial cancer syndrome characterized by a predisposition to keratoacanthoma (KA) and sebaceous tumors. Although MTS and hereditary non-polyposis colorectal cancer (HNPCC) share the same genetic alterations in mismatch repair (MMR) genes, the other skin lesions in MTS or HNPCC have been only rarely reported. We report a family with an MSH2 mutation c. Read More

    [The tip of the iceberg: multiple cutaneous sebaceous tumor in colon cancer. Muir-Torre syndrome--case report].
    Orv Hetil 2015 Jun;156(24):979-84
    Belgyógyászati Osztály, Zala Megyei Kórház Zalaegerszeg, Zrínyi u. 1., 8900.
    Muir-Torre syndrome is a rare genodermatosis with autosomal dominant inheritance. The syndrome is considered to be a subtype of the hereditary nonpolyposis colorectal cancer (or Lynch-syndrome). In two-third of the cases, it develops as the consequence of germline mutations in mismatch-repair genes--most commonly MutS Homolog-2 and MutL Homolog-1. Read More

    Adenocarcinoma of the cervix associated with a neuroendocrine small cell carcinoma of the cervix in the spectrum of Muir-Torre syndrome.
    Eur J Gynaecol Oncol 2015 ;36(2):213-5
    Muir-Torre syndrome (MTS) is an autosomal genodermatosis that is diagnosed by the presence of at least one sebaceous gland tumor and at least one visceral malignancy. The most frequent visceral malignancies reported in literature are low-grade colon-rectal and genitourinary cancers, with prolonged survival. The authors report the case of a 52-year-old female, with a positive familial history for MTS, who developed a cutaneous sebaceous carcinoma, a synchronous colon-rectal adenocarcinoma, and a metachronous endocervical adenocarcinoma associated with a neuroendocrine small cell carcinoma of the cervix (SCNC), with lymph node metastasis. Read More

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