Site and Tumor Type Predicts DNA Mismatch Repair Status in Cutaneous Sebaceous Neoplasia
Cutaneous sebaceous neoplasia is known to exhibit a high degree of DNA mismatch repair (MMR) deficiency leading to microsatellite instability and these tumors can be markers of the Muir-Torre syndrome and internal malignancy. Other tumors, such as colonic carcinoma, show tendencies toward particular...
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Veröffentlicht in: | The American journal of surgical pathology 2008-06, Vol.32 (6), p.936-942 |
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creator | SINGH, Rajenda S GRAYSON, Wayne REDSTON, Mark HAFEEZ DIWAN, A WARNEKE, Carla L MCKEE, Phillip H LEV, Dina LYLE, Stephen CALONJE, Eduardo LAZAR, Alexander J. F |
description | Cutaneous sebaceous neoplasia is known to exhibit a high degree of DNA mismatch repair (MMR) deficiency leading to microsatellite instability and these tumors can be markers of the Muir-Torre syndrome and internal malignancy. Other tumors, such as colonic carcinoma, show tendencies toward particular histologic features and sites of involvement correlating with MMR deficiency. There are few comprehensive studies of unselected cutaneous sebaceous neoplasms. To address this gap in knowledge, we examined 94 sebaceous neoplasms from 92 patients and 17 sebaceous hyperplasia controls using immunohistochemistry for MLH1, MSH2, and MSH6. Our results indicate that MMR deficiency is significantly associated with anatomic location (more frequently in the trunk and extremities as compared with head and neck), tumor type (more often in adenoma compared with carcinoma within the head and neck region), and architecture (keratoacanthomalike). No correlation between cystic change and MMR deficiency was noted. Cutaneous sebaceous neoplasia has tendencies toward certain tumor types and anatomic distribution based on MMR status analogous to that seen in colonic carcinomas and other tumors. These may be helpful indicators for further workup for the Muir-Torre syndrome. |
doi_str_mv | 10.1097/PAS.0b013e31815b0cc2 |
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Our results indicate that MMR deficiency is significantly associated with anatomic location (more frequently in the trunk and extremities as compared with head and neck), tumor type (more often in adenoma compared with carcinoma within the head and neck region), and architecture (keratoacanthomalike). No correlation between cystic change and MMR deficiency was noted. Cutaneous sebaceous neoplasia has tendencies toward certain tumor types and anatomic distribution based on MMR status analogous to that seen in colonic carcinomas and other tumors. These may be helpful indicators for further workup for the Muir-Torre syndrome.</description><identifier>ISSN: 0147-5185</identifier><identifier>EISSN: 1532-0979</identifier><identifier>DOI: 10.1097/PAS.0b013e31815b0cc2</identifier><identifier>PMID: 18551751</identifier><identifier>CODEN: AJSPDX</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Abdomen ; Adenoma - genetics ; Adult ; Aged ; Aged, 80 and over ; Back ; Biological and medical sciences ; Carcinoma - genetics ; Dermatology ; DNA Mismatch Repair ; Extremities ; Female ; Head and Neck Neoplasms - genetics ; Humans ; Investigative techniques, diagnostic techniques (general aspects) ; Keratoacanthoma - genetics ; Male ; Medical sciences ; Middle Aged ; Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques ; Sebaceous Gland Neoplasms - genetics ; Thorax ; Tumors of the skin and soft tissue. 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F</creatorcontrib><title>Site and Tumor Type Predicts DNA Mismatch Repair Status in Cutaneous Sebaceous Neoplasia</title><title>The American journal of surgical pathology</title><addtitle>Am J Surg Pathol</addtitle><description>Cutaneous sebaceous neoplasia is known to exhibit a high degree of DNA mismatch repair (MMR) deficiency leading to microsatellite instability and these tumors can be markers of the Muir-Torre syndrome and internal malignancy. Other tumors, such as colonic carcinoma, show tendencies toward particular histologic features and sites of involvement correlating with MMR deficiency. There are few comprehensive studies of unselected cutaneous sebaceous neoplasms. To address this gap in knowledge, we examined 94 sebaceous neoplasms from 92 patients and 17 sebaceous hyperplasia controls using immunohistochemistry for MLH1, MSH2, and MSH6. Our results indicate that MMR deficiency is significantly associated with anatomic location (more frequently in the trunk and extremities as compared with head and neck), tumor type (more often in adenoma compared with carcinoma within the head and neck region), and architecture (keratoacanthomalike). No correlation between cystic change and MMR deficiency was noted. Cutaneous sebaceous neoplasia has tendencies toward certain tumor types and anatomic distribution based on MMR status analogous to that seen in colonic carcinomas and other tumors. These may be helpful indicators for further workup for the Muir-Torre syndrome.</description><subject>Abdomen</subject><subject>Adenoma - genetics</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Back</subject><subject>Biological and medical sciences</subject><subject>Carcinoma - genetics</subject><subject>Dermatology</subject><subject>DNA Mismatch Repair</subject><subject>Extremities</subject><subject>Female</subject><subject>Head and Neck Neoplasms - genetics</subject><subject>Humans</subject><subject>Investigative techniques, diagnostic techniques (general aspects)</subject><subject>Keratoacanthoma - genetics</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques</subject><subject>Sebaceous Gland Neoplasms - genetics</subject><subject>Thorax</subject><subject>Tumors of the skin and soft tissue. 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Miscellaneous investigative techniques</topic><topic>Sebaceous Gland Neoplasms - genetics</topic><topic>Thorax</topic><topic>Tumors of the skin and soft tissue. Premalignant lesions</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>SINGH, Rajenda S</creatorcontrib><creatorcontrib>GRAYSON, Wayne</creatorcontrib><creatorcontrib>REDSTON, Mark</creatorcontrib><creatorcontrib>HAFEEZ DIWAN, A</creatorcontrib><creatorcontrib>WARNEKE, Carla L</creatorcontrib><creatorcontrib>MCKEE, Phillip H</creatorcontrib><creatorcontrib>LEV, Dina</creatorcontrib><creatorcontrib>LYLE, Stephen</creatorcontrib><creatorcontrib>CALONJE, Eduardo</creatorcontrib><creatorcontrib>LAZAR, Alexander J. 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F</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Site and Tumor Type Predicts DNA Mismatch Repair Status in Cutaneous Sebaceous Neoplasia</atitle><jtitle>The American journal of surgical pathology</jtitle><addtitle>Am J Surg Pathol</addtitle><date>2008-06-01</date><risdate>2008</risdate><volume>32</volume><issue>6</issue><spage>936</spage><epage>942</epage><pages>936-942</pages><issn>0147-5185</issn><eissn>1532-0979</eissn><coden>AJSPDX</coden><abstract>Cutaneous sebaceous neoplasia is known to exhibit a high degree of DNA mismatch repair (MMR) deficiency leading to microsatellite instability and these tumors can be markers of the Muir-Torre syndrome and internal malignancy. Other tumors, such as colonic carcinoma, show tendencies toward particular histologic features and sites of involvement correlating with MMR deficiency. There are few comprehensive studies of unselected cutaneous sebaceous neoplasms. To address this gap in knowledge, we examined 94 sebaceous neoplasms from 92 patients and 17 sebaceous hyperplasia controls using immunohistochemistry for MLH1, MSH2, and MSH6. Our results indicate that MMR deficiency is significantly associated with anatomic location (more frequently in the trunk and extremities as compared with head and neck), tumor type (more often in adenoma compared with carcinoma within the head and neck region), and architecture (keratoacanthomalike). No correlation between cystic change and MMR deficiency was noted. Cutaneous sebaceous neoplasia has tendencies toward certain tumor types and anatomic distribution based on MMR status analogous to that seen in colonic carcinomas and other tumors. These may be helpful indicators for further workup for the Muir-Torre syndrome.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>18551751</pmid><doi>10.1097/PAS.0b013e31815b0cc2</doi><tpages>7</tpages></addata></record> |
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subjects | Abdomen Adenoma - genetics Adult Aged Aged, 80 and over Back Biological and medical sciences Carcinoma - genetics Dermatology DNA Mismatch Repair Extremities Female Head and Neck Neoplasms - genetics Humans Investigative techniques, diagnostic techniques (general aspects) Keratoacanthoma - genetics Male Medical sciences Middle Aged Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Sebaceous Gland Neoplasms - genetics Thorax Tumors of the skin and soft tissue. Premalignant lesions |
title | Site and Tumor Type Predicts DNA Mismatch Repair Status in Cutaneous Sebaceous Neoplasia |
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