تقرير
Muir-Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations.
| العنوان: | Muir-Torre syndrome and recent updates on screening guidelines: The link between colorectal tumors and sebaceous adenomas in unusual locations. |
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| المؤلفون: | Shaker N; Department of Pathology, The Ohio State University Wexner Medical Center, Columbus, Ohio, USA., Shaker N; Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA., Abid A; Department of Pathology, University of Virginia Health, Charlottesville, Virginia, USA., Shah S; Department of Pathology, Geisenger Medical Center, Mechanicsville, Pennsylvania, USA., Shakra RA; Department of Pathology, International Medical Center Hospital, Al-Ruwais, Jeddah, Saudi Arabia., Sangueza OP; Departments of Dermatology and Dermatopathology, Wake Forest University, School of Medicine, Medical Center Boulevard, Winston-Salem, North Carolina, USA. |
| المصدر: | Journal of surgical oncology [J Surg Oncol] 2023 Dec; Vol. 128 (8), pp. 1380-1384. Date of Electronic Publication: 2023 Sep 14. |
| نوع المنشور: | Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 0222643 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-9098 (Electronic) Linking ISSN: 00224790 NLM ISO Abbreviation: J Surg Oncol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2005-> : Hoboken, NJ : Wiley-Liss Original Publication: New York, Plenum. |
| مواضيع طبية MeSH: | Muir-Torre Syndrome*/diagnosis , Muir-Torre Syndrome*/genetics , Muir-Torre Syndrome*/pathology , Sebaceous Gland Neoplasms*/diagnosis , Sebaceous Gland Neoplasms*/genetics , Sebaceous Gland Neoplasms*/pathology , Colorectal Neoplasms*/diagnosis , Colorectal Neoplasms*/genetics , Colorectal Neoplasms*/metabolism , Adenoma*/diagnosis , Adenoma*/genetics , Adenoma*/pathology, Male ; Humans ; Middle Aged ; MutS Homolog 2 Protein |
| مستخلص: | Background: Muir-Torre syndrome (MTS) is a rare genetic disorder that is caused by mismatch repair (MMR) protein mutations. MTS increases the risk of developing skin and gastrointestinal tumors such as sebaceous adenomas (SAs), sebaceous carcinomas, colorectal cancer, endometrial cancer, and ovarian cancer. The risk of developing these types of tumors varies depending on the involved mutation and the individual's family history risk. Case Presentation: A 47-year-old male presented with multiple skin lesions on the scalp, face, flank, and back. The examination revealed well-circumscribed, dome-shaped papules with a yellowish appearance with white oily material in the center. Histopathologic examination showed a well-circumscribed sebaceous neoplasm consistent with a mixture of basaloid cells and lobules of bland-appearing mature adipocytes that communicate directly to the surface epithelium. Focal cystic changes and peritumoral lymphocytic infiltrate were noted. Increased mitotic figures were seen in the basaloid cell component. The overall findings were consistent with the diagnosis of SAs. MMR staining showed preserved expression in MLH1 and PMS2 proteins, while MSH2 and MSH6 staining showed loss of protein expression. A screening colonoscopy showed numerous colon and rectal tumors, prompting concerns about the likelihood of MTS. Surgical intervention was pursued for complete resection. Histology revealed a diagnosis of mucinous adenocarcinoma/adenocarcinoma with mucinous features of the colon. The diagnosis of MTS was supported by molecular testing that revealed MSH2 germline mutation. The increased likelihood of MTS was attributed to the occurrence of SAs in unusual locations of the head and neck regions, unlike typical cases. Conclusion: MTS is a rare clinical condition that necessitates prompt thorough evaluation and periodic surveillance. When SA is encountered in atypical locations, it is important to consider additional testing supported by immunohistochemical staining, molecular testing, and regular screening to exclude the likelihood of MTS. (© 2023 The Authors. Journal of Surgical Oncology published by Wiley Periodicals LLC.) |
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| معلومات مُعتمدة: | Ohio State University |
| فهرسة مساهمة: | Keywords: Muir-Torre syndrome; colorectal tumors; sebaceous adenoma |
| المشرفين على المادة: | EC 3.6.1.3 (MutS Homolog 2 Protein) |
| تواريخ الأحداث: | Date Created: 20230914 Date Completed: 20231115 Latest Revision: 20231115 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1002/jso.27440 |
| PMID: | 37706607 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1096-9098 |
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| DOI: | 10.1002/jso.27440 |