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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

    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

    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

    Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.
    Fam Cancer 2016 Dec 21. Epub 2016 Dec 21.
    Clinical Cancer Genetics Program, UT MD Anderson Center, Unit 1354, 1155 Pressler St., Houston, TX, 77030, USA.
    Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. 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

    Sebaceous mantleoma (mantle adenoma): reappraisal of the myth of the problematic benign neoplasm with sebaceous mantle differentiation.
    J Cutan Pathol 2016 Nov 1;43(11):1050-1055. Epub 2016 Sep 1.
    Department of Pathology, Itabashi Central Medical Laboratory, Tokyo, Japan.
    Few cases of a true benign neoplasm with sebaceous mantle differentiation have been reported, and little is known about this tumor. Herein, we present a rare case of the neoplasm called sebaceous mantleoma, along with a comparison of the histology and immunoprofile with those of normal sebaceous mantles. A pedunculated polyp occurred on the scalp of a 51-year-old woman. Read More

    Enlightening the Pink: Use of Confocal Microscopy in Pink Lesions.
    Dermatol Clin 2016 Oct;34(4):443-458
    Medicine and Medical Specialities Department, Medicine and Health Sciences Faculty, Alcalá University, Univeristy Campus, National road II, 28871- Alcalá de Henares, Madrid, Spain; Dermatology Service, Memorial Sloan-Kettering Cancer Center, 16 E 60th Street, New York, NY 10022, USA.
    Solitary pink lesions can pose a particular challenge to dermatologists because they may be almost or completely featureless clinically and dermoscopically, previously requiring biopsy to exclude malignancy. However, these lesions usually are not particularly challenging histopathologically. Thus, the incorporation of in vivo reflectance confocal microscopy into the clinical practice, which allows for noninvasive examination of the skin at the cellular level revealing features previously seen only on histopathology, is particularly useful for this subset of clinically difficult lesions. Read More

    A unique case of isolated sebaceous adenoma of the bulbar conjunctiva.
    Arq Bras Oftalmol 2016 Jul-Aug;79(4):253-4
    Department of Ophthalmology, Akdeniz University, Antalya, Turkey.
    Our patient was a 34 year-old male who presented with a painless conjunctival mass that had developed 3 months before his first visit. On performing slit-lamp biomicroscopy, a lobulated pink-yellowish solid mobile mass was observed on the nasal bulbar conjunctival surface of his left eye. The tumor was excised, and histopathologic examination of the tumor revealed a sebaceous adenoma. Read More

    Lrig1 Expression in Human Sebaceous Gland Tumors.
    Dermatopathology (Basel) 2016 Apr-Jun;3(2):44-54. Epub 2016 Jun 1.
    Department of Dermatology, University Hospital of Geneva, Geneva, Switzerland.
    Background: Sebaceous glands contribute significantly to the barrier functions of the skin. However, little is known about their homeostasis and tumorigenesis. Recently, increased expression of stem cell marker Lrig1 has been reported in sebaceous carcinoma-like tumors of K14ΔNLef1 transgenic mice. Read More

    Epidermal CYLD inactivation sensitizes mice to the development of sebaceous and basaloid skin tumors.
    JCI Insight 2016 Jul;1(11)
    Department of Dermatology, Duke University, Duke University Medical Center, Durham, North Carolina, USA; Department of Pathology, Duke University, Durham, North Carolina, USA.
    The deubiquitinase-encoding gene Cyld displays a dominant genetic linkage to a wide spectrum of skin-appendage tumors, which could be collectively designated as CYLD mutant-syndrome (CYLD(m)-syndrome). Despite recent advances, little is understood about the molecular mechanisms responsible for this painful and difficult-to-treat skin disease. Here, we generated a conditional mouse model with epidermis-targeted expression of a catalytically deficient CYLD(m) through K14-Cre-mediated deletion of exon 9 (hereafter refer to Cyld(EΔ9/Δ9) ). Read More

    Circumscribed sebaceous neoplasms: a morphological, immunohistochemical and molecular analysis.
    Pathology 2016 Aug 14;48(5):454-62. Epub 2016 Jun 14.
    Department of Anatomical Pathology, PathWest Laboratory Medicine, QEII Medical Centre, Nedlands, WA, Australia; Translational Cancer Pathology Laboratory, School of Pathology and Laboratory Medicine, The University of Western Australia, Crawley, WA, Australia.
    Sebaceous neoplasms encompass a range of lesions, including benign entities such as sebaceous adenoma and sebaceoma, as well as sebaceous carcinoma. The distinction of sebaceous carcinoma from benign lesions relies on histological identification of architectural or cytological features of malignancy. In this study we have assessed the diagnostic discriminatory ability of mitotic rate and immunohistochemical markers (p53, bcl-2 and p16) in a selected group of well circumscribed sebaceous neoplasms, incorporating examples of sebaceous adenoma, sebaceoma and sebaceous carcinoma. Read More

    Skin diseases of the nose.
    Am J Rhinol Allergy 2016 May;30(3):83-90
    Otorhinolaryngology and Head and Neck Surgery Clinic, Bakirkoy Dr Sadi Konuk Research and Training Hospital, Istanbul, Turkey.
    Objectives: The goal of this study was to review the main lesion types of the nasal skin and appropriate treatment strategies rather than to present a comprehensive list of all diseases that affect the skin that can involve the nose.

    Methods: We reviewed the main nasal skin lesion types and available treatment strategies. Nasal skin lesions were classified as benign, premalignant, or malignant. 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

    Nuclear factor XIIIa staining (clone AC-1A1 mouse monoclonal) is a sensitive and specific marker to discriminate sebaceous proliferations from other cutaneous clear cell neoplasms.
    J Cutan Pathol 2016 Aug 10;43(8):649-56. Epub 2016 Jun 10.
    Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, AR, USA.
    Sebaceous carcinoma is a rare but serious malignancy that may be difficult to diagnose when poorly differentiated. Other epithelial tumors with clear cell change may mimic sebaceous carcinoma. Few useful or specific immunohistochemical markers for sebaceous differentiation are available. Read More

    A unexpected growth arising within nevus sebaceous of Jadassohn.
    Dermatol Online J 2016 Jan 15;22(1). Epub 2016 Jan 15.
    University Hospital Birmingham.
    The predisposition to epithelial neoplasms in nevus sebaceous is well established; most tumors occur in adults and are benign. Hidradenoma is a relatively rare benign tumor of sweat gland origin that can rarely arise within a nevus sebaceous. We present an interesting case of a hidradenoma and sebaceoma arising within a nevus sebaceous and present a literature review of the 2 conditions. 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

    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

    Cutaneous Epithelial Lesions Induced by N-Methyl-N-nitrosourea in Male Sprague-Dawley Rats: A Possible Animal Model for Human Keratoacanthoma.
    Anticancer Res 2016 Jan;36(1):111-20
    Department of Dermatology, Meiwa Hospital, Nishinomiya, Hyogo, Japan.
    A single intraperitoneal injection of 50 or 75 mg/kg N-methyl-N-nitrosourea in male Sprague-Dawley rats at 4 weeks of age, dose-dependently resulted in cutaneous epithelial cysts and tumors of pilosebaceous origin. Cysts were composed of epidermal cysts or mixed epidermal and inner root sheath hybrid cysts. The majority of induced tumors were keratoacanthomas. Read More

    GATA3 Expression in Normal Skin and in Benign and Malignant Epidermal and Cutaneous Adnexal Neoplasms.
    Am J Dermatopathol 2015 Dec;37(12):885-91
    Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, CA.
    Initial investigations reported GATA3 to be a sensitive and relatively specific marker for mammary and urothelial carcinomas. Recently, GATA3 expression has been described in several other epithelial tumors. However, there has been only limited investigation of GATA3 expression in cutaneous epithelial tumors. Read More

    Nevus sebaceus: a clinicopathological study of 168 cases and review of the literature.
    Int J Dermatol 2016 Feb 17;55(2):193-200. Epub 2015 Sep 17.
    Department of Dermatology, Razi Hospital, Tehran University of Medical Sciences, Tehran, Iran.
    Background: Nevus sebaceus is a hamartoma composed of abnormal epidermal and dermal components with clinical and histopathological features that change with aging. Prophylactic excision of the lesion was advised historically considering its potential for giving rise to malignant tumors. However, whether early prophylactic excision should be performed has been questioned recently as most of the tumors have been found to be benign in origin. Read More

    Expression of Malic Enzymes in Sebaceous Lesions.
    Am J Dermatopathol 2016 Aug;38(8):580-5
    Department of Pathology, Tri-Service General Hospital and National Defense Medical Center, Taipei, Taiwan.
    Malic enzymes (MEs) are involved in fatty acid biosynthesis and lipid accumulation, and their expression in sebocytes and sebaceous lesions has not been investigated. The aims of this study were to examine ME1 and ME2 expression in normal skin and sebaceous lesions. A total of 68 cases including 5 specimens of normal skin, 12 facial lesions showing sebaceous hyperplasia, 18 sebaceous adenomas, 10 sebaceomas, 13 steatocystomas, and 10 sebaceous carcinomas were examined for the expression of ME1 and ME2. Read More

    Somatic BRAF c.1799T>A p.V600E Mosaicism syndrome characterized by a linear syringocystadenoma papilliferum, anaplastic astrocytoma, and ocular abnormalities.
    Am J Med Genet A 2016 Jan 11;170A(1):189-94. Epub 2015 Sep 11.
    Department of Pediatrics, Tohoku University School of Medicine, Sendai, Miyagi, Japan.
    Genetic mosaicism for somatic mutations of oncogenes is common in genodermatoses, which can be complicated with extra-cutaneous abnormalities. Here we describe an infant with a congenital anaplastic astrocytoma, a linear syringocystadenoma papilliferum, and ocular abnormalities. The BRAF c. Read More

    A Histological Snapshot of Hypothetical Multistep Progression From Nevus Sebaceus to Invasive Syringocystadenocarcinoma Papilliferum.
    Am J Dermatopathol 2016 Jan;38(1):56-62
    Departments of *Pathology, and †Dermatology, University of Alabama at Birmingham, Birmingham, AL.
    Syringocystadenocarcinoma papilliferum (SCACP) is an extremely rare adnexal neoplasm, believed to arise in a preexisting nevus sebaceus of Jadassohn (NSJ) through a multistep progression process. This hypothetical process involves an NSJ giving rise to syringocystadenoma papilliferum, which then presumably undergoes malignant transformation in rare circumstances to give rise to SCACP in situ, which finally progresses to an invasive SCACP. Of the 30 SCACP cases reported so far, none have documented the process from a birthmark to the final invasive lesion, with histological evidence of each step, in a single tumor. 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

    Ceruminous adenoma (ceruminoma) arising in a nevus sebaceus of Jadassohn within the external auditory canal of a 3 year-old boy - A case report.
    Int J Pediatr Otorhinolaryngol 2015 Nov 20;79(11):1932-4. Epub 2015 Jul 20.
    Medical University of Warsaw, Department of Pediatric Otolaryngology, Poland.
    Nevus sebaceus of Jadassohn is a congenital yellowish hairless skin lesion, mainly located on the head and neck. A common phenomenon is the coexistence of secondary tumors within the lesion. These are mainly benign tumors, the majority of which are trichoblastoma and syringocystadenoma papilliferum. Read More

    Dermoscopy of tumours arising in naevus sebaceous: a morphological study of 58 cases.
    J Eur Acad Dermatol Venereol 2015 Nov 24;29(11):2231-7. Epub 2015 Aug 24.
    Dermatology Department, Hospital Clinic de Barcelona, Barcelona, Spain.
    Background: Naevus sebaceous is a congenital hamartoma commonly associated with the development of secondary neoplasms. There are sparse data relating to the dermoscopy of tumours arising in naevus sebaceous.

    Objectives: To evaluate the dermoscopic features of a large series of neoplasms arising in naevus sebaceous. Read More

    Intraepidermal benign sebaceous neoplasm: apocrine poroma (hidroacanthoma simplex type) with extensive sebaceous differentiation with sebaceoma-like features.
    J Cutan Pathol 2016 Feb 21;43(2):171-6. Epub 2015 Sep 21.
    Department of Pathology, Faculty of Medicine, Saga University, Saga, Japan.
    We herein report a patient who clinically presented with a yellowish, flat plaque that histopathologically showed a benign lesion mainly composed of intraepidermal basaloid nests with sebaceous differentiation. This lesion was considered to be fundamentally apocrine poroma (hidroacanthoma simplex type) with sebaceous differentiation. Nests composed of typical poroid cells were seen, and the results of immunostaining for lumican supported this diagnosis and excluded the possibility of clonal seborrheic keratosis. 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

    RETROSPECTIVE EVALUATION OF CASES OF NEOPLASIA IN A CAPTIVE POPULATION OF EGYPTIAN FRUIT BATS (ROUSETTUS AEGYPTIACUS).
    J Zoo Wildl Med 2015 Jun;46(2):325-32
    Reports of neoplasia in Chiroptera species are rare. (6, 10) This retrospective study describes five types of neoplasia identified within a captive population of male Egyptian fruit bats (Rousettus aegyptiacus) housed in a zoo from 2004 through November of 2014. Tumor types identified include fibrosarcoma, cutaneous lymphoma, benign focal bronchioloalveolar neoplasm, anaplastic sarcoma, and sebaceous epithelioma. 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

    Sebaceous carcinoma of the parotid gland: a case report.
    Case Rep Oncol 2015 Jan-Apr;8(1):106-12. Epub 2015 Feb 21.
    Kansai Medical University, Hirakata, Japan.
    Background: Primary sebaceous carcinoma of the parotid gland is extremely rare, and because of its rarity, clinicopathological characteristics and histogenesis are not fully understood.

    Methods: Here, we report a patient who presented with a left infra-auricular painless mass. We present the histological features and discuss possible optimal treatments based on previous literature. Read More

    Trichoblastoma, syringocystadenoma papilliferum, desmoplastic trichilemmoma and tumor of the follicular infundibulum with signet-ring cells, all arising in nevus sebaceus.
    J Cutan Pathol 2015 Sep 12;42(9):645-51. Epub 2015 May 12.
    Department of Dermatology, University of Iowa, Iowa City, IA, USA.
    Herein, we describe a 63-year-old male with multiple tumors arising within a nevus sebaceus on the posterior scalp. On histopathologic examination, four distinct tumors were identified: trichoblastoma, syringocystadenoma papilliferum, desmoplastic trichilemmoma and tumor of the follicular infundibulum (TFI). Within the TFI component of the nevus sebaceus, there was intracytoplasmic accumulation of eosinophilic keratin, as shown on pancytokeratin-stained sections, imparting a signet-ring appearance to the cells. Read More

    Preferential expression of OVOL1 in inner root sheath of hair, sebaceous gland, eccrine duct and their neoplasms in human skin.
    Fukuoka Igaku Zasshi 2014 Aug;105(8):166-73
    OVOL1 is an important transcription factor for epidermal keratinization, which suppresses proliferation and switches on the differentiation of keratinocytes. A recent genome-wide association study has revealed that OVOL1 is one of the genes associated with susceptibility to atopic dermatitis. Although it is known to be expressed in murine skin and hair follicles, no investigations have focused on its localization in human skin. Read More

    Sebaceous neoplasms and the immunoprofile of mismatch-repair proteins as a screening target for syndromic cases.
    Pathol Res Pract 2015 Jan 23;211(1):78-82. Epub 2014 Oct 23.
    Department of Pathology, Copenhagen University Hospital Hvidovre, Denmark.
    Introduction: Muir-Torre syndrome (MTS), a subset of Lynch syndrome, is characterized by concurrent or sequential development of sebaceous neoplasms, and internal malignancies, specifically colorectal carcinoma (CRC), and can be related to mismatch-repair (MMR)-protein deficiency. In CRC context, p16-negativity in MLH1-deficient cases may denote methylation rather than mutation. The prime aim of this study was to evaluate the mismatch-repair (MMR)-protein deficiency and the p16 status among sebaceous neoplasms. Read More

    The challenge of extraabdominal desmoid tumour management in patients with Gardner's syndrome: radiofrequency ablation, a promising option.
    World J Surg Oncol 2014 Nov 27;12:361. Epub 2014 Nov 27.
    General Surgery 1, Fondazione IRCCS Policlinico San Matteo, Viale Camillo Golgi 19, 27100 Pavia, Italy.
    Desmoid tumours are benign, myofibroblastic stromal neoplasms common in Gardner's syndrome, which is a subtype of familial adenomatous polyposis characterized by colonic polyps, osteomas, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts. The primary treatment is surgery, followed by adjuvant radiotherapy, but the local recurrence rate is high, and wide resection can result in debilitating loss of function. We report the case of a 39-year-old man with Gardner's syndrome who had already undergone a total prophylactic colectomy. Read More

    Muir-Torre syndrome.
    Arch Pathol Lab Med 2014 Dec;138(12):1685-9
    From the Department of Pathology, University of Mississippi Medical Center, Jackson.
    Muir-Torre syndrome (MTS) is a rare autosomal-dominant genodermatosis characterized by sebaceous neoplasms and one or more visceral malignancies. Sebaceous tumors include sebaceous adenoma and carcinoma, which may be solitary or multiple. Visceral malignancies most often arise in the colorectum and endometrium. Read More

    Diagnostic and prognostic value of cellular proliferation assessment with Ki-67 protein in dogs suffering from benign and malignant perianal tumors.
    Folia Biol (Krakow) 2014 ;62(3):235-41
    In the perianal region of carnivores, skin consists of modified sebaceous glands called perianal glands. Tumors originating from perianal glands are the third most frequent type of neoplasm in male dogs after neoplastic diseases of testes and skin. Ki-67 is a nuclear non-histone protein considered a proliferation marker in normal and neoplastic proliferating cells. Read More

    Avoiding the major complication of ophthalmic pathology: misdiagnosis. A review of three common diagnostic challenges.
    Semin Ophthalmol 2014 Sep-Nov;29(5-6):468-74
    David G. Cogan Ophthalmic Pathology Laboratory, Massachusetts Eye & Ear Infirmary and.
    Diagnostic errors in ophthalmic pathology are not uncommon. Pathology is a very subjective specialty with several biases dependent on such factors as training, experience, practice patterns, personal anecdotes, and inevitable human error. In addition to these factors, there are many cases where difficulty in diagnosis lies in differentiating between two very closely related, or similar appearing, entities that may have vastly different prognostic consequences. Read More

    Synchronous gastric and sebaceous cancers, a rare manifestation of MLH1-related Muir-Torre syndrome.
    Int J Clin Exp Pathol 2014 15;7(8):5196-202. Epub 2014 Jul 15.
    Department of Molecular Biology of Cancer, Institute of Experimental Medicine, Academy of Sciences of the Czech Republic Prague.
    Muir-Torre syndrome (MTS), a rare variant of the hereditary non polyposis colorectal cancer syndrome, is an autosomal dominant genodermatosis characterised by coincidence of sebaceous gland neoplasms (sebaceous adenoma, epithelioma, or carcinoma) and at least one internal malignancy. The underlying cause of MTS is a germline mutation in DNA mismatch repair genes MSH2, MLH1 and MSH6. We report the case of a 52-year-old caucasian woman with the development of metachronous colon cancer at the age of 38 years, uterine cancer at the age of 43 years, and unique occurrence of synchronous gastric and sebaceous carcinomas related to germline point mutation c. Read More

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