{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,18]],"date-time":"2026-09-18T00:03:29Z","timestamp":1789689809632,"version":"4.0.1"},"reference-count":50,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2020,12,14]],"date-time":"2020-12-14T00:00:00Z","timestamp":1607904000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,2,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>The 2019 Workshop of the Society for Hematopathology\/European Association for Haematopathology received and reviewed cases covering the spectrum of mastocytosis and related diseases, including morphologic mimics, focusing on recent updates and relevant findings for pathologists.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Methods<\/jats:title>\n                  <jats:p>The workshop panel reviewed 99 cases of cutaneous and systemic mastocytosis (SM) and SM and associated hematologic neoplasms (SM-AHN).<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Results<\/jats:title>\n                  <jats:p>Despite a common theme of KIT mutation (particularly D816V), mastocytosis is a heterogeneous neoplasm with a wide variety of presentations. This spectrum, including rare subtypes and extramedullary organ involvement, is discussed and illustrated by representative cases.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>In the age of targeted treatment aimed at KIT, the accurate diagnosis and classification of mastocytosis has major implications for therapy and further interventions. Understanding the clinical, pathologic, and genetic findings of mastocytosis is crucial for selecting the proper tests to perform and subsequent arrival at a correct diagnosis in this rare disease.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ajcp\/aqaa183","type":"journal-article","created":{"date-parts":[[2020,8,28]],"date-time":"2020-08-28T11:23:46Z","timestamp":1598613826000},"page":"239-266","source":"Crossref","is-referenced-by-count":19,"title":["Mastocytosis"],"prefix":"10.1093","volume":"155","author":[{"given":"Alexandar","family":"Tzankov","sequence":"first","affiliation":[{"name":"Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric","family":"Duncavage","sequence":"additional","affiliation":[{"name":"Department of Pathology, Washington University, St Louis, MO"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fiona E","family":"Craig","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic, Phoenix, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Katalin","family":"Kelemen","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic, Phoenix, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rebecca L","family":"King","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Attilio","family":"Orazi","sequence":"additional","affiliation":[{"name":"Department of Pathology, Texas Tech Health Sciences Center, El Paso"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leticia","family":"Quintanilla-Martinez","sequence":"additional","affiliation":[{"name":"Institute of Pathology and Neuropathology, Eberhard Karls University of T\u00fcbingen and Comprehensive Cancer Center, T\u00fcbingen University Hospital, T\u00fcbingen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaaren K","family":"Reichard","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic, Rochester, MN"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa M","family":"Rimsza","sequence":"additional","affiliation":[{"name":"Division of Hematopathology, Mayo Clinic, Phoenix, AZ"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sa A","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Hematopathology, University of Texas MD Anderson Cancer Center, Houston"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Peter","family":"Horny","sequence":"additional","affiliation":[{"name":"Institute of Pathology, Ludwig-Maximilians University, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tracy I","family":"George","sequence":"additional","affiliation":[{"name":"Department of Pathology, University of Utah School of Medicine, Salt Lake City"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2020,12,14]]},"reference":[{"key":"2021020410000498300_CIT0001","first-page":"62","article-title":"Mastocytosis.","volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Horny","year":"2017","edition":"4th revised ed"},{"key":"2021020410000498300_CIT0002","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1056\/NEJMra1409760","article-title":"Mast cells, mastocytosis, and related disorders","volume":"373","author":"Theoharides","year":"2015","journal-title":"N Engl J Med."},{"key":"2021020410000498300_CIT0003","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1159\/000504099","article-title":"The spectrum of aggressive mastocytosis: a workshop report and literature review","volume":"87","author":"Leguit","year":"2020","journal-title":"Pathobiology."},{"key":"2021020410000498300_CIT0004","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1146\/annurev-pathol-052016-100312","article-title":"Pathogenesis and pathology of mastocytosis","volume":"12","author":"Metcalfe","year":"2017","journal-title":"Annu Rev Pathol."},{"key":"2021020410000498300_CIT0005","doi-asserted-by":"crossref","first-page":"1195","DOI":"10.1182\/blood.V98.4.1195","article-title":"The Kit-activating mutation D816V enhances stem cell factor\u2013dependent chemotaxis","volume":"98","author":"Taylor","year":"2001","journal-title":"Blood."},{"key":"2021020410000498300_CIT0006","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1038\/leu.2015.24","article-title":"KIT mutation analysis in mast cell neoplasms: recommendations of the European Competence Network on Mastocytosis","volume":"29","author":"Arock","year":"2015","journal-title":"Leukemia."},{"key":"2021020410000498300_CIT0007","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1038\/jid.2009.281","article-title":"Pediatric mastocytosis is a clonal disease associated with D816V and other activating c-KIT mutations","volume":"130","author":"Bodemer","year":"2010","journal-title":"J Invest Dermatol."},{"key":"2021020410000498300_CIT0008","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s00277-013-1964-1","article-title":"The KIT D816V expressed allele burden for diagnosis and disease monitoring of systemic mastocytosis","volume":"93","author":"Erben","year":"2014","journal-title":"Ann Hematol."},{"key":"2021020410000498300_CIT0009","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1111\/all.12409","article-title":"The KIT D816V allele burden predicts survival in patients with mastocytosis and correlates with the WHO type of the disease","volume":"69","author":"Hoermann","year":"2014","journal-title":"Allergy."},{"key":"2021020410000498300_CIT0010","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1016\/j.iac.2018.04.005","article-title":"Kit mutations: new insights and diagnostic value","volume":"38","author":"Falchi","year":"2018","journal-title":"Immunol Allergy Clin North Am."},{"key":"2021020410000498300_CIT0011","doi-asserted-by":"crossref","first-page":"2366","DOI":"10.1182\/blood-2006-04-015545","article-title":"KIT mutation in mast cells and other bone marrow hematopoietic cell lineages in systemic mast cell disorders: a prospective study of the Spanish Network on Mastocytosis (REMA) in a series of 113 patients","volume":"108","author":"Garcia-Montero","year":"2006","journal-title":"Blood."},{"key":"2021020410000498300_CIT0012","doi-asserted-by":"crossref","first-page":"547","DOI":"10.1373\/clinchem.2017.277897","article-title":"Digital PCR: a sensitive and precise method for KIT D816V quantification in mastocytosis","volume":"64","author":"Greiner","year":"2018","journal-title":"Clin Chem."},{"key":"2021020410000498300_CIT0013","doi-asserted-by":"crossref","first-page":"1125.e1","DOI":"10.1016\/j.jaip.2019.01.006","article-title":"Proposed diagnostic algorithm for patients with suspected mast cell activation syndrome","volume":"7","author":"Valent","year":"2019","journal-title":"J Allergy Clin Immunol Pract."},{"key":"2021020410000498300_CIT0014","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1016\/j.jaci.2015.08.034","article-title":"Cutaneous manifestations in patients with mastocytosis: consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma and Immunology; and the European Academy of Allergology and Clinical Immunology","volume":"137","author":"Hartmann","year":"2016","journal-title":"J Allergy Clin Immunol."},{"key":"2021020410000498300_CIT0015","doi-asserted-by":"crossref","first-page":"435","DOI":"10.1111\/j.1365-2362.2007.01807.x","article-title":"Standards and standardization in mastocytosis: consensus statements on diagnostics, treatment recommendations and response criteria","volume":"37","author":"Valent","year":"2007","journal-title":"Eur J Clin Invest."},{"key":"2021020410000498300_CIT0016","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.6004\/jnccn.2018.0088","article-title":"Systemic mastocytosis, version 2.2019, NCCN clinical practice guidelines in oncology","volume":"16","author":"Gotlib","year":"2018","journal-title":"J Natl Compr Canc Netw."},{"key":"2021020410000498300_CIT0017","doi-asserted-by":"crossref","first-page":"1673.e3","DOI":"10.1016\/j.jaci.2015.04.024","article-title":"Assessment of clinical findings, tryptase levels, and bone marrow histopathology in the management of pediatric mastocytosis","volume":"136","author":"Carter","year":"2015","journal-title":"J Allergy Clin Immunol."},{"key":"2021020410000498300_CIT0018","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1038\/modpathol.2013.117","article-title":"Adult-onset mastocytosis in the skin is highly suggestive of systemic mastocytosis","volume":"27","author":"Berezowska","year":"2014","journal-title":"Mod Pathol."},{"key":"2021020410000498300_CIT0019","doi-asserted-by":"crossref","first-page":"168.e1","DOI":"10.1016\/j.jaci.2015.05.008","article-title":"Clinical, immunophenotypic, and molecular characteristics of well-differentiated systemic mastocytosis","volume":"137","author":"\u00c1lvarez-Twose","year":"2016","journal-title":"J Allergy Clin Immunol."},{"key":"2021020410000498300_CIT0020","doi-asserted-by":"crossref","first-page":"178","DOI":"10.1016\/j.jaci.2013.12.1090","article-title":"Mastocytosis associated with a rare germline KIT K509I mutation displays a well-differentiated mast cell phenotype","volume":"134","author":"Chan","year":"2014","journal-title":"J Allergy Clin Immunol."},{"key":"2021020410000498300_CIT0021","doi-asserted-by":"crossref","first-page":"1834","DOI":"10.1002\/ccr3.1607","article-title":"Diffuse cutaneous mastocytosis with novel somatic KIT mutation K509I and association with tuberous sclerosis","volume":"6","author":"Otani","year":"2018","journal-title":"Clin Case Rep."},{"key":"2021020410000498300_CIT0022","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1016\/j.leukres.2005.08.015","article-title":"A novel K509I mutation of KIT identified in familial mastocytosis\u2014in vitro and in vivo responsiveness to imatinib therapy","volume":"30","author":"Zhang","year":"2006","journal-title":"Leuk Res."},{"key":"2021020410000498300_CIT0023","doi-asserted-by":"crossref","first-page":"887","DOI":"10.1007\/s00256-012-1374-9","article-title":"Advanced imaging of skeletal manifestations of systemic mastocytosis","volume":"41","author":"Fritz","year":"2012","journal-title":"Skeletal Radiol."},{"key":"2021020410000498300_CIT0024","first-page":"100693","article-title":"Non-hematologic diagnosis of systemic mastocytosis: collaboration of radiology and pathology","author":"Ozturk","year":"2020","journal-title":"Blood Rev."},{"key":"2021020410000498300_CIT0025","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1136\/flgastro-2011-100013","article-title":"Systemic mastocytosis: a gastroenterological perspective","volume":"3","author":"Philpott","year":"2012","journal-title":"Frontline Gastroenterol."},{"key":"2021020410000498300_CIT0026","doi-asserted-by":"crossref","first-page":"832","DOI":"10.1097\/PAS.0000000000000190","article-title":"A clinicopathologic study of 24 cases of systemic mastocytosis involving the gastrointestinal tract and assessment of mucosal mast cell density in irritable bowel syndrome and asymptomatic patients","volume":"38","author":"Doyle","year":"2014","journal-title":"Am J Surg Pathol."},{"key":"2021020410000498300_CIT0027","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1016\/j.iac.2014.01.010","article-title":"Pathology of extramedullary mastocytosis","volume":"34","author":"Doyle","year":"2014","journal-title":"Immunol Allergy Clin North Am."},{"key":"2021020410000498300_CIT0028","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1182\/asheducation-2015.1.98","article-title":"Diagnosis and management of mastocytosis: an emerging challenge in applied hematology","volume":"2015","author":"Valent","year":"2015","journal-title":"Hematology Am Soc Hematol Educ Program."},{"key":"2021020410000498300_CIT0029","doi-asserted-by":"crossref","first-page":"2264","DOI":"10.1182\/bloodadvances.2019000152","article-title":"A phase 2 study of brentuximab vedotin in patients with CD30-positive advanced systemic mastocytosis","volume":"3","author":"Gotlib","year":"2019","journal-title":"Blood Adv."},{"key":"2021020410000498300_CIT0030","doi-asserted-by":"crossref","first-page":"1365","DOI":"10.1182\/blood.2019000932","article-title":"New developments in diagnosis, prognostication, and treatment of advanced systemic mastocytosis","volume":"135","author":"Reiter","year":"2020","journal-title":"Blood."},{"key":"2021020410000498300_CIT0031","doi-asserted-by":"crossref","first-page":"1115","DOI":"10.1038\/leu.2015.4","article-title":"Molecular profiling of myeloid progenitor cells in multi-mutated advanced systemic mastocytosis identifies KIT D816V as a distinct and late event","volume":"29","author":"Jawhar","year":"2015","journal-title":"Leukemia."},{"key":"2021020410000498300_CIT0032","doi-asserted-by":"crossref","first-page":"2846","DOI":"10.1200\/JCO.19.00640","article-title":"MARS: mutation-adjusted risk score for advanced systemic mastocytosis","volume":"37","author":"Jawhar","year":"2019","journal-title":"J Clin Oncol."},{"key":"2021020410000498300_CIT0033","doi-asserted-by":"crossref","first-page":"1691","DOI":"10.1093\/annonc\/mdu047","article-title":"Refined diagnostic criteria and classification of mast cell leukemia (MCL) and myelomastocytic leukemia (MML): a consensus proposal","volume":"25","author":"Valent","year":"2014","journal-title":"Ann Oncol."},{"key":"2021020410000498300_CIT0034","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.leukres.2014.09.010","article-title":"Chronic mast cell leukemia: a novel leukemia-variant with distinct morphological and clinical features","volume":"39","author":"Valent","year":"2015","journal-title":"Leuk Res."},{"key":"2021020410000498300_CIT0035","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1002\/dc.23965","article-title":"Acute mast cell leukemia: a rare but highly aggressive hematopoietic neoplasm","volume":"46","author":"Costopoulos","year":"2018","journal-title":"Diagn Cytopathol."},{"key":"2021020410000498300_CIT0036","doi-asserted-by":"crossref","first-page":"137","DOI":"10.1182\/blood-2017-01-764423","article-title":"Response and progression on midostaurin in advanced systemic mastocytosis: KIT D816V and other molecular markers","volume":"130","author":"Jawhar","year":"2017","journal-title":"Blood."},{"key":"2021020410000498300_CIT0037","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1007\/s12032-014-0123-4","article-title":"Analysis of V600E BRAF and D816V KIT mutations in systemic mastocytosis","volume":"31","author":"H\u00e4gglund","year":"2014","journal-title":"Med Oncol."},{"key":"2021020410000498300_CIT0038","doi-asserted-by":"crossref","first-page":"738.e9","DOI":"10.1016\/j.ccell.2019.04.006","article-title":"Ripretinib (DCC-2618) is a switch control kinase inhibitor of a broad spectrum of oncogenic and drug-resistant KIT and PDGFRA variants","volume":"35","author":"Smith","year":"2019","journal-title":"Cancer Cell."},{"key":"2021020410000498300_CIT0039","first-page":"77","article-title":"Novel approaches to treating advanced systemic mastocytosis","volume":"11","author":"Gilreath","year":"2019","journal-title":"Clin Pharmacol."},{"key":"2021020410000498300_CIT0040","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1002\/ajh.21713","article-title":"Myelomastocytic leukemia versus mast cell leukemia versus systemic mastocytosis associated with acute myeloid leukemia: a diagnostic challenge","volume":"85","author":"Arredondo","year":"2010","journal-title":"Am J Hematol."},{"key":"2021020410000498300_CIT0041","doi-asserted-by":"crossref","first-page":"1348","DOI":"10.1016\/j.bbmt.2016.04.018","article-title":"Consensus opinion on allogeneic hematopoietic cell transplantation in advanced systemic mastocytosis","volume":"22","author":"Ustun","year":"2016","journal-title":"Biol Blood Marrow Transplant."},{"key":"2021020410000498300_CIT0042","doi-asserted-by":"crossref","first-page":"5727","DOI":"10.1182\/blood-2009-02-205237","article-title":"Systemic mastocytosis in 342 consecutive adults: survival studies and prognostic factors","volume":"113","author":"Lim","year":"2009","journal-title":"Blood."},{"key":"2021020410000498300_CIT0043","doi-asserted-by":"crossref","first-page":"3769","DOI":"10.1182\/blood-2009-05-220145","article-title":"Prognostically relevant breakdown of 123 patients with systemic mastocytosis associated with other myeloid malignancies","volume":"114","author":"Pardanani","year":"2009","journal-title":"Blood."},{"key":"2021020410000498300_CIT0044","doi-asserted-by":"crossref","first-page":"261","DOI":"10.1016\/j.leukres.2006.03.006","article-title":"Neoplastic mast cells in systemic mastocytosis associated with t(8;21) acute myeloid leukemia are derived from the leukemic clone","volume":"31","author":"Pullarkat","year":"2007","journal-title":"Leuk Res."},{"key":"2021020410000498300_CIT0045","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1002\/path.2677","article-title":"Variable presence of KITD816V in clonal haematological non-mast cell lineage diseases associated with systemic mastocytosis (SM-AHNMD)","volume":"220","author":"Sotlar","year":"2010","journal-title":"J Pathol."},{"key":"2021020410000498300_CIT0046","doi-asserted-by":"crossref","first-page":"604","DOI":"10.1136\/jcp.2003.014860","article-title":"Systemic mastocytosis with associated clonal haematological non-mast cell lineage diseases: a histopathological challenge","volume":"57","author":"Horny","year":"2004","journal-title":"J Clin Pathol."},{"key":"2021020410000498300_CIT0047","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1309\/AJCP1Q0YSXEAHNKK","article-title":"Hidden mastocytosis in acute myeloid leukemia with t(8;21)(q22;q22)","volume":"140","author":"Johnson","year":"2013","journal-title":"Am J Clin Pathol."},{"key":"2021020410000498300_CIT0048","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1002\/gcc.22526","article-title":"Incidence and prognostic impact of cytogenetic aberrations in patients with systemic mastocytosis","volume":"57","author":"Naumann","year":"2018","journal-title":"Genes Chromosomes Cancer."},{"key":"2021020410000498300_CIT0049","doi-asserted-by":"crossref","first-page":"27","DOI":"10.1007\/s12308-009-0023-2","article-title":"Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemia","volume":"2","author":"Pullarkat","year":"2009","journal-title":"J Hematop."},{"key":"2021020410000498300_CIT0050","doi-asserted-by":"crossref","first-page":"493","DOI":"10.1309\/AJCPSGQ71GJQQACL","article-title":"Morphologically occult systemic mastocytosis in bone marrow: clinicopathologic features and an algorithmic approach to diagnosis","volume":"144","author":"Reichard","year":"2015","journal-title":"Am J Clin Pathol."}],"container-title":["American Journal of Clinical Pathology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/academic.oup.com\/ajcp\/article-pdf\/155\/2\/239\/36186779\/aqaa183.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"http:\/\/academic.oup.com\/ajcp\/article-pdf\/155\/2\/239\/36186779\/aqaa183.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T11:25:28Z","timestamp":1612783528000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ajcp\/article\/155\/2\/239\/6032728"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,12,14]]},"references-count":50,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2020,12,14]]},"published-print":{"date-parts":[[2021,2,4]]}},"URL":"https:\/\/doi.org\/10.1093\/ajcp\/aqaa183","relation":{},"ISSN":["0002-9173","1943-7722"],"issn-type":[{"value":"0002-9173","type":"print"},{"value":"1943-7722","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2021,2,1]]},"published":{"date-parts":[[2020,12,14]]}}}