{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T06:50:05Z","timestamp":1789973405854,"version":"4.0.1"},"reference-count":65,"publisher":"American Society of Hematology","issue":"21","content-domain":{"domain":["ashpublications.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2018,11,13]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Systemic mastocytosis (SM) is a highly heterogeneous disease with indolent and aggressive forms, with the mechanisms leading to malignant transformation still remaining to be elucidated. Here, we investigated the presence and frequency of genetic variants in 34 SM patients with multilineal KIT D816V mutations. Initial screening was performed by targeted sequencing of 410 genes in DNA extracted from purified bone marrow cells and hair from 12 patients with nonadvanced SM and 8 patients with advanced SM, followed by whole-genome sequencing (WGS) in 4 cases. Somatic mutations were further investigated in another 14 patients with advanced SM. Despite the fact that no common mutation other than KIT D816V was found in WGS analyses, targeted next-generation sequencing identified 67 nonsynonymous genetic variants involving 39 genes. Half of the mutations were somatic (mostly multilineal), whereas the other half were germline variants. The presence of \u22651 multilineal somatic mutation involving genes other than KIT D816V, \u22653 germline variants, and \u22651 multilineal mutation in the SRSF2, ASXL1, RUNX1, and\/or EZH2 genes (S\/A\/R\/E genes), in addition to skin lesions, splenomegaly, thrombocytopenia, low hemoglobin levels, and increased alkaline phosphatase and \u03b22-microglobulin serum levels, were associated with a poorer patient outcome. However, the presence of \u22651 multilineal mutation, particularly involving S\/A\/R\/E genes, was the only independent predictor for progression-free survival and overall survival in our cohort.<\/jats:p>","DOI":"10.1182\/bloodadvances.2018020628","type":"journal-article","created":{"date-parts":[[2018,10,29]],"date-time":"2018-10-29T11:45:17Z","timestamp":1540813517000},"page":"2814-2828","update-policy":"https:\/\/doi.org\/10.1182\/blood.2019cm0000","source":"Crossref","is-referenced-by-count":49,"title":["Impact of somatic and germline mutations on the outcome of systemic mastocytosis"],"prefix":"10.1182","volume":"2","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-8982-5663","authenticated-orcid":false,"given":"Javier I.","family":"Mu\u00f1oz-Gonz\u00e1lez","sequence":"first","affiliation":[{"name":"Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain;"},{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mar\u00eda","family":"Jara-Acevedo","sequence":"additional","affiliation":[{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"},{"name":"Sequencing Service (NUCLEUS), University of Salamanca, Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iv\u00e1n","family":"Alvarez-Twose","sequence":"additional","affiliation":[{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"},{"name":"Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast) and CIBERONC, Virgen del Valle Hospital, Toledo, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason D.","family":"Merker","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Stanford, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Teodosio","sequence":"additional","affiliation":[{"name":"Department of Immunohematology and Blood Transfusion, Leiden University Medical Center, Leiden, The Netherlands; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanli","family":"Hou","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Stanford, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Henriques","sequence":"additional","affiliation":[{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"},{"name":"Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast) and CIBERONC, Virgen del Valle Hospital, Toledo, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Krishna M.","family":"Roskin","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Stanford, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Sanchez-Mu\u00f1oz","sequence":"additional","affiliation":[{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"},{"name":"Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast) and CIBERONC, Virgen del Valle Hospital, Toledo, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albert G.","family":"Tsai","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Stanford, CA;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Caldas","sequence":"additional","affiliation":[{"name":"Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain;"},{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Almudena","family":"Matito","sequence":"additional","affiliation":[{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"},{"name":"Instituto de Estudios de Mastocitosis de Castilla La Mancha (CLMast) and CIBERONC, Virgen del Valle Hospital, Toledo, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. Ignacio","family":"S\u00e1nchez-Gallego","sequence":"additional","affiliation":[{"name":"Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain;"},{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Mayado","sequence":"additional","affiliation":[{"name":"Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain;"},{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9633-1749","authenticated-orcid":false,"given":"Noelia","family":"Dasilva-Freire","sequence":"additional","affiliation":[{"name":"Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain;"},{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jason R.","family":"Gotlib","sequence":"additional","affiliation":[{"name":"Division of Hematology, Stanford University School of Medicine\/Stanford Cancer Institute, Stanford, CA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis","family":"Escribano","sequence":"additional","affiliation":[{"name":"Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain;"},{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0007-7230","authenticated-orcid":false,"given":"Alberto","family":"Orfao","sequence":"additional","affiliation":[{"name":"Cancer Research Center (IBMCC, USAL-CSIC), Department of Medicine and Cytometry Service (NUCLEUS), CIBERONC, University of Salamanca, Salamanca, Spain;"},{"name":"Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain;"},{"name":"Spanish Network on Mastocytosis (REMA), Toledo and Salamanca, Spain;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4360-1386","authenticated-orcid":false,"given":"Andr\u00e9s 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