FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2969854471> ?p ?o ?g. }

• W2969854471 endingPage "e00188" @default.
• W2969854471 startingPage "e00188" @default.
• W2969854471 abstract "CASE REPORT A 67-year-old woman presented to her dermatologist with 3 newly developed skin lesions on the face and upper back (Figure 1). Her medical history was significant for endometrial cancer treated with hysterectomy at age of 51 years, and her family history was positive for bladder cancer. The patient had no history of tobacco use or other significant risk factors. The lesions were removed and determined to be sebaceous adenomas by histopathology. The diagnosis of Muir-Torre syndrome (MTS) was suggested, and repeat colonoscopy was advised, despite having a normal routine colonoscopy 4 years prior. The colonoscopy showed a mass lesion in the proximal ascending colon, and biopsy of the specimen revealed high-grade, poorly differentiated, invasive adenocarcinoma (Figure 2). The patient underwent right hemicolectomy; at operation, no visceral metastases or lymph node involvement was identified. Immunohistochemical analysis of the lesions revealed normal expression of MLH1 and PMS2, with loss of expression of MSH2 and MSH6. Southern blot analysis of MSH6 revealed the presence of a 32-kb deletion involving exons 1–6.Figure 1.: Sebaceous adenoma located on the upper back.Figure 2.: (A) Biopsy specimen showing high-grade, poorly differentiated, invasive adenocarcinoma. (B) The same specimen magnified.MTS is a rare genodermatosis, defined by sebaceous neoplasms, keratoacanthomas, and visceral malignancies, most commonly genitourinary and colon cancer.1 Sebaceous tumors are unusual neoplasms that generally appear on the face, scalp, and eyelids as yellow to brown papules or nodules, and histologically, as sebaceous lobules of various sizes that are incompletely differentiated, and contain basaloid cells at the periphery and mature sebaceous elements with cytoplasmic vacuoles in the center.2 Although necessary for the diagnosis of MTS, sebaceous neoplasms may occur decades before or after the diagnosis of a visceral malignancy, as displayed in our patient.3 Colorectal cancer is the most common visceral malignancy in patients with MTS. Lesions are typically located in the proximal colon and occur 10-20 years earlier than in the general population.2 They tend to be of low grade and carry a relatively good prognosis, even in the presence of locoregional metastasis.4 Tumors of the urogenital system (endometrium, ovary, bladder, kidney, and ureter) are diagnosed in about one-quarter of patients.4 Malignancies of other sites, including the breast, parotid gland, upper gastrointestinal tract, brain, lung, and hematologic and neuroendocrine malignancies, have been reported.2,3 In patients with MTS, it is suggested that screening colonoscopy start as early as age 18 years and be repeated every 2–3 years.3 The finding of a high-grade neoplasm supports this 4 years after a normal colonoscopy in our patient. DISCLOSURES Author contributions: D. Rubay, L. Ohanisian, and N. Kaur reviewed the literature and wrote and edited the manuscript. MP Bank wrote and edited the manuscript. T. Genuit and A. Ross revised the manuscript for intellectual content. D. Rubay is the article guarantor. Financial disclosure: None to report. Informed consent was obtained for this case report." @default.
• W2969854471 created "2019-08-29" @default.
• W2969854471 creator A5006941709 @default.
• W2969854471 creator A5024337758 @default.
• W2969854471 creator A5032156494 @default.
• W2969854471 creator A5056531664 @default.
• W2969854471 creator A5075299409 @default.
• W2969854471 creator A5076271109 @default.
• W2969854471 date "2019-08-01" @default.
• W2969854471 modified "2023-09-30" @default.
• W2969854471 title "Muir-Torre Syndrome, a Rare Phenotype of Hereditary Nonpolyposis Colorectal Cancer With Cutaneous Manifestations" @default.
• W2969854471 cites W2058041571 @default.
• W2969854471 cites W2078265007 @default.
• W2969854471 cites W2169607608 @default.
• W2969854471 cites W2264845920 @default.
• W2969854471 doi "https://doi.org/10.14309/crj.0000000000000188" @default.
• W2969854471 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6791636" @default.
• W2969854471 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/31737719" @default.
• W2969854471 hasPublicationYear "2019" @default.
• W2969854471 type Work @default.
• W2969854471 sameAs 2969854471 @default.
• W2969854471 citedByCount "1" @default.
• W2969854471 countsByYear W29698544712023 @default.
• W2969854471 crossrefType "journal-article" @default.
• W2969854471 hasAuthorship W2969854471A5006941709 @default.
• W2969854471 hasAuthorship W2969854471A5024337758 @default.
• W2969854471 hasAuthorship W2969854471A5032156494 @default.
• W2969854471 hasAuthorship W2969854471A5056531664 @default.
• W2969854471 hasAuthorship W2969854471A5075299409 @default.
• W2969854471 hasAuthorship W2969854471A5076271109 @default.
• W2969854471 hasBestOaLocation W29698544711 @default.
• W2969854471 hasConcept C111425858 @default.
• W2969854471 hasConcept C121608353 @default.
• W2969854471 hasConcept C126322002 @default.
• W2969854471 hasConcept C142724271 @default.
• W2969854471 hasConcept C2775934546 @default.
• W2969854471 hasConcept C2776559941 @default.
• W2969854471 hasConcept C2776674815 @default.
• W2969854471 hasConcept C2777936439 @default.
• W2969854471 hasConcept C2778435480 @default.
• W2969854471 hasConcept C2779399171 @default.
• W2969854471 hasConcept C2780833581 @default.
• W2969854471 hasConcept C2781179581 @default.
• W2969854471 hasConcept C2781182431 @default.
• W2969854471 hasConcept C526805850 @default.
• W2969854471 hasConcept C60748783 @default.
• W2969854471 hasConcept C71924100 @default.
• W2969854471 hasConceptScore W2969854471C111425858 @default.
• W2969854471 hasConceptScore W2969854471C121608353 @default.
• W2969854471 hasConceptScore W2969854471C126322002 @default.
• W2969854471 hasConceptScore W2969854471C142724271 @default.
• W2969854471 hasConceptScore W2969854471C2775934546 @default.
• W2969854471 hasConceptScore W2969854471C2776559941 @default.
• W2969854471 hasConceptScore W2969854471C2776674815 @default.
• W2969854471 hasConceptScore W2969854471C2777936439 @default.
• W2969854471 hasConceptScore W2969854471C2778435480 @default.
• W2969854471 hasConceptScore W2969854471C2779399171 @default.
• W2969854471 hasConceptScore W2969854471C2780833581 @default.
• W2969854471 hasConceptScore W2969854471C2781179581 @default.
• W2969854471 hasConceptScore W2969854471C2781182431 @default.
• W2969854471 hasConceptScore W2969854471C526805850 @default.
• W2969854471 hasConceptScore W2969854471C60748783 @default.
• W2969854471 hasConceptScore W2969854471C71924100 @default.
• W2969854471 hasIssue "8" @default.
• W2969854471 hasLocation W29698544711 @default.
• W2969854471 hasLocation W29698544712 @default.
• W2969854471 hasLocation W29698544713 @default.
• W2969854471 hasLocation W29698544714 @default.
• W2969854471 hasLocation W29698544715 @default.
• W2969854471 hasOpenAccess W2969854471 @default.
• W2969854471 hasPrimaryLocation W29698544711 @default.
• W2969854471 hasRelatedWork W2058438744 @default.
• W2969854471 hasRelatedWork W2092950859 @default.
• W2969854471 hasRelatedWork W2559494189 @default.
• W2969854471 hasRelatedWork W2584993633 @default.
• W2969854471 hasRelatedWork W2915546096 @default.
• W2969854471 hasRelatedWork W2980540827 @default.
• W2969854471 hasRelatedWork W3138935609 @default.
• W2969854471 hasRelatedWork W3211325071 @default.
• W2969854471 hasRelatedWork W4284972243 @default.
• W2969854471 hasRelatedWork W4294991157 @default.
• W2969854471 hasVolume "6" @default.
• W2969854471 isParatext "false" @default.
• W2969854471 isRetracted "false" @default.
• W2969854471 magId "2969854471" @default.
• W2969854471 workType "article" @default.