{"id":"https://openalex.org/W53735624","doi":"https://doi.org/10.1093/ajcp/97.5.705","title":"Multiple Hamartoma Syndrome (Cowden\u2019s Disease) Associated with Renal Cell Carcinoma and Primary Neuroendocrine Carcinoma of the Skin (Merkel Cell Carcinoma)","display_name":"Multiple Hamartoma Syndrome (Cowden\u2019s Disease) Associated with Renal Cell Carcinoma and Primary Neuroendocrine Carcinoma of the Skin (Merkel Cell Carcinoma)","publication_year":1992,"publication_date":"1992-05-01","ids":{"openalex":"https://openalex.org/W53735624","doi":"https://doi.org/10.1093/ajcp/97.5.705","mag":"53735624","pmid":"https://pubmed.ncbi.nlm.nih.gov/1575215"},"language":"en","primary_location":{"id":"doi:10.1093/ajcp/97.5.705","doi":"https://doi.org/10.1093/ajcp/97.5.705","is_oa":false,"landing_page_url":"https://doi.org/10.1093/ajcp/97.5.705","pdf_url":null,"source":{"id":"https://openalex.org/S15871148","display_name":"American Journal of Clinical Pathology","issn_l":"0002-9173","issn":["0002-9173","1943-7722"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Clinical Pathology","raw_type":"journal-article"},"volume":null,"type":"article","indexed_in":["crossref","pubmed"],"open_access":{"is_oa":false,"oa_status":"closed","oa_url":null,"any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5069653151","display_name":"Helmut Haibach","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I76835614","display_name":"University of Missouri","ror":"https://ror.org/02ymw8z06","country_code":"US","type":"education","lineage":["https://openalex.org/I76835614"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H. Haibach","raw_affiliation_strings":["From the Department of Pathology, and the Cosmopolitan International Diabetes Center, University of Missouri-Columbia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Pathology, and the Cosmopolitan International Diabetes Center, University of Missouri-Columbia","institution_ids":["https://openalex.org/I76835614"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111722987","display_name":"T W Burns","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I76835614","display_name":"University of Missouri","ror":"https://ror.org/02ymw8z06","country_code":"US","type":"education","lineage":["https://openalex.org/I76835614"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T. W. Burns","raw_affiliation_strings":["From the Department of Department of Internal Medicine, and the Cosmopolitan International Diabetes Center, University of Missouri-Columbia"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Department of Internal Medicine, and the Cosmopolitan International Diabetes Center, University of Missouri-Columbia","institution_ids":["https://openalex.org/I76835614"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051733355","display_name":"Harold E. Carlson","orcid":"https://orcid.org/0000-0001-9515-7374","observed_orcids":["https://orcid.org/0000-0001-9515-7374"]},"institutions":[{"id":"https://openalex.org/I4210102711","display_name":"Stony Brook Medicine","ror":"https://ror.org/01882y777","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210102711","https://openalex.org/I59553526"]},{"id":"https://openalex.org/I4210109353","display_name":"Northport VA Medical Center","ror":"https://ror.org/01xtpc441","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1322918889","https://openalex.org/I2799886695","https://openalex.org/I4210094901","https://openalex.org/I4210109353"]},{"id":"https://openalex.org/I59553526","display_name":"Stony Brook University","ror":"https://ror.org/05qghxh33","country_code":"US","type":"education","lineage":["https://openalex.org/I59553526"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"H. E. Carlson","raw_affiliation_strings":["From the Department of Medical and Research Services, Northport VA Medical Center, and Department of Medicine, SUNY-Stony Brook, Stony Brook, New York"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medical and Research Services, Northport VA Medical Center, and Department of Medicine, SUNY-Stony Brook, Stony Brook, New York","institution_ids":["https://openalex.org/I4210102711","https://openalex.org/I4210109353","https://openalex.org/I59553526"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5073170360","display_name":"KD Burman","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800363604","display_name":"Walter Reed National Military Medical Center","ror":"https://ror.org/025cem651","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I1330347796","https://openalex.org/I2800250139","https://openalex.org/I2800363604","https://openalex.org/I2800386880"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"K. D. Burman","raw_affiliation_strings":["From the Department of Walter Reed Army Medical Center, Endocrine Service, Kyle Metabolic Unit, Washington, DC"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Walter Reed Army Medical Center, Endocrine Service, Kyle Metabolic Unit, Washington, DC","institution_ids":["https://openalex.org/I2800363604"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5113592858","display_name":"Leonard J. Deftos","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I36258959","display_name":"University of California San Diego","ror":"https://ror.org/0168r3w48","country_code":"US","type":"education","lineage":["https://openalex.org/I36258959"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"L. J. Deftos","raw_affiliation_strings":["From the Department of Medicine, University of California, San Diego, San Diego VA Medical Center, La Jolla, California"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"From the Department of Medicine, University of California, San Diego, San Diego VA Medical Center, La Jolla, California","institution_ids":["https://openalex.org/I36258959"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":6,"corresponding_author_ids":[],"corresponding_institution_ids":[],"apc_list":{"value":4660,"currency":"USD","value_usd":4660},"apc_paid":null,"fwci":2.056,"has_fulltext":false,"cited_by_count":74,"citation_normalized_percentile":{"value":0.8510777,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":89,"max":97},"biblio":{"volume":"97","issue":"5","first_page":"705","last_page":"712"},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T14078","display_name":"Multiple and Secondary Primary Cancers","score":0.22220000624656677,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T14078","display_name":"Multiple and Secondary Primary Cancers","score":0.22220000624656677,"subfield":{"id":"https://openalex.org/subfields/2713","display_name":"Epidemiology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T12355","display_name":"Genetic and rare skin diseases.","score":0.09740000218153,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11868","display_name":"Cancer and Skin Lesions","score":0.09120000153779984,"subfield":{"id":"https://openalex.org/subfields/2708","display_name":"Dermatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/cowden-disease","display_name":"Cowden disease","score":0.8069999814033508},{"id":"https://openalex.org/keywords/cowden-syndrome","display_name":"Cowden syndrome","score":0.9929999709129333},{"id":"https://openalex.org/keywords/renal-cell-carcinoma","display_name":"renal cell carcinoma","score":0.9819999933242798},{"id":"https://openalex.org/keywords/merkel-cell-carcinoma","display_name":"Merkel cell carcinoma","score":0.9909999966621399},{"id":"https://openalex.org/keywords/neuroendocrine-carcinoma","display_name":"neuroendocrine carcinoma","score":0.8140000104904175},{"id":"https://openalex.org/keywords/genodermatoses","display_name":"genodermatosis","score":0.9279999732971191},{"id":"https://openalex.org/keywords/chromogranin-a","display_name":"chromogranin A","score":0.8309999704360962},{"id":"https://openalex.org/keywords/calcitonin","display_name":"calcitonin","score":0.9900000095367432},{"id":"https://openalex.org/keywords/thyroid","display_name":"thyroid gland","score":0.35600000619888306},{"id":"https://openalex.org/keywords/liver","display_name":"liver","score":0.777999997138977}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.7194200158119202},{"id":"https://openalex.org/C2778342957","wikidata":"https://www.wikidata.org/wiki/Q1711744","display_name":"Merkel cell carcinoma","level":3,"score":0.7017048597335815},{"id":"https://openalex.org/C142724271","wikidata":"https://www.wikidata.org/wiki/Q7208","display_name":"Pathology","level":1,"score":0.6293715834617615},{"id":"https://openalex.org/C2777546739","wikidata":"https://www.wikidata.org/wiki/Q33525","display_name":"Carcinoma","level":2,"score":0.5999386310577393},{"id":"https://openalex.org/C2777472916","wikidata":"https://www.wikidata.org/wiki/Q1164529","display_name":"Renal cell carcinoma","level":2,"score":0.5072845816612244},{"id":"https://openalex.org/C2781182431","wikidata":"https://www.wikidata.org/wiki/Q356033","display_name":"Adenocarcinoma","level":3,"score":0.48373106122016907},{"id":"https://openalex.org/C126322002","wikidata":"https://www.wikidata.org/wiki/Q11180","display_name":"Internal medicine","level":1,"score":0.4446818232536316},{"id":"https://openalex.org/C2779627488","wikidata":"https://www.wikidata.org/wiki/Q315860","display_name":"Calcitonin","level":2,"score":0.4164176881313324},{"id":"https://openalex.org/C143998085","wikidata":"https://www.wikidata.org/wiki/Q162555","display_name":"Oncology","level":1,"score":0.35102882981300354},{"id":"https://openalex.org/C121608353","wikidata":"https://www.wikidata.org/wiki/Q12078","display_name":"Cancer","level":2,"score":0.3088133931159973}],"mesh":[{"descriptor_ui":"D000368","descriptor_name":"Aged","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002116","descriptor_name":"Calcitonin","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D002292","descriptor_name":"Carcinoma, Renal Cell","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D002292","descriptor_name":"Carcinoma, Renal Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002292","descriptor_name":"Carcinoma, Renal Cell","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D002864","descriptor_name":"Chromogranins","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":false},{"descriptor_ui":"D004273","descriptor_name":"DNA, Neoplasm","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D006223","descriptor_name":"Hamartoma Syndrome, Multiple","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007150","descriptor_name":"Immunohistochemistry","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007621","descriptor_name":"Karyotyping","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D007680","descriptor_name":"Kidney Neoplasms","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D007680","descriptor_name":"Kidney Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D007680","descriptor_name":"Kidney Neoplasms","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008297","descriptor_name":"Male","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009378","descriptor_name":"Neoplasms, Multiple Primary","qualifier_ui":null,"qualifier_name":null,"is_major_topic":true},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D012878","descriptor_name":"Skin Neoplasms","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D015266","descriptor_name":"Carcinoma, Merkel Cell","qualifier_ui":"Q000097","qualifier_name":"blood","is_major_topic":true},{"descriptor_ui":"D015266","descriptor_name":"Carcinoma, Merkel Cell","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D015266","descriptor_name":"Carcinoma, Merkel Cell","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D053379","descriptor_name":"Chromogranin A","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":2,"locations":[{"id":"doi:10.1093/ajcp/97.5.705","doi":"https://doi.org/10.1093/ajcp/97.5.705","is_oa":false,"landing_page_url":"https://doi.org/10.1093/ajcp/97.5.705","pdf_url":null,"source":{"id":"https://openalex.org/S15871148","display_name":"American Journal of Clinical Pathology","issn_l":"0002-9173","issn":["0002-9173","1943-7722"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","poland-70","russia-white-list-1"],"host_organization":"https://openalex.org/P4310311648","host_organization_name":"Oxford University Press","host_organization_lineage":["https://openalex.org/P4310311648","https://openalex.org/P4310311647"],"host_organization_lineage_names":["Oxford University Press","University of Oxford"],"type":"journal"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American Journal of Clinical Pathology","raw_type":"journal-article"},{"id":"pmid:1575215","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/1575215","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"American journal of clinical pathology","raw_type":"Case Reports"}],"best_oa_location":null,"sustainable_development_goals":[{"score":0.9763000011444092,"id":"https://metadata.un.org/sdg/3","display_name":"Good health and well-being"}],"study_designs":[{"id":"https://openalex.org/study-designs/case-report","display_name":"Case Report"}],"awards":[],"funders":[],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":0,"referenced_works":[],"related_works":["https://openalex.org/W2410209569","https://openalex.org/W2000355126","https://openalex.org/W2461764656","https://openalex.org/W2413784363","https://openalex.org/W4290299615","https://openalex.org/W2392694748","https://openalex.org/W2042337695","https://openalex.org/W2401917284","https://openalex.org/W2426448492","https://openalex.org/W1995448752"],"abstract_inverted_index":{"A":[0,35,78],"case":[1],"of":[2,17,23,57,75],"multiple":[3],"hamartoma":[4],"syndrome":[5],"(Cowden's":[6],"disease)":[7],"associated":[8],"with":[9,32],"renal":[10],"cell":[11],"adenocarcinoma":[12],"and":[13,50,87],"primary":[14,59],"neuroendocrine":[15,60,104],"carcinoma":[16],"the":[18,47,58,67,99],"skin":[19],"is":[20],"described.":[21],"Neither":[22],"these":[24],"neoplasms":[25],"has":[26],"been":[27],"documented":[28],"previously":[29],"in":[30,46,55,105],"association":[31],"this":[33],"genodermatosis.":[34],"search":[36],"for":[37],"epidermal":[38],"growth":[39],"factor":[40],"receptor":[41],"(c-erb-B":[42],"protooncogene)":[43],"gene":[44],"abnormalities":[45],"kidney,":[48],"liver,":[49],"thyroid,":[51],"as":[52,54],"well":[53],"tissue":[56],"carcinoma,":[61],"was":[62,103],"negative.":[63],"Serum":[64],"obtained":[65],"from":[66],"patient":[68],"before":[69],"his":[70],"death":[71],"contained":[72],"elevated":[73],"levels":[74],"both":[76],"chromogranin":[77],"(2641":[79],"ng/mL;":[80],"normal":[81,91],"level,":[82,92],"less":[83,93],"than":[84,94],"20":[85],"ng/mL)":[86],"calcitonin":[88],"(517":[89],"pg/mL;":[90],"200":[95],"pg/mL),":[96],"suggesting":[97],"that":[98],"patient's":[100],"principal":[101],"tumor":[102],"origin.":[106]},"counts_by_year":[{"year":2025,"cited_by_count":2},{"year":2022,"cited_by_count":2},{"year":2021,"cited_by_count":2},{"year":2020,"cited_by_count":4},{"year":2019,"cited_by_count":3},{"year":2018,"cited_by_count":1},{"year":2017,"cited_by_count":1},{"year":2016,"cited_by_count":3},{"year":2015,"cited_by_count":1},{"year":2014,"cited_by_count":3},{"year":2013,"cited_by_count":1},{"year":2012,"cited_by_count":1}],"updated_date":"2026-11-04T10:54:05.112534","created_date":"2016-06-24T00:00:00"}