{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T21:48:11Z","timestamp":1790200091284,"version":"4.1.0"},"reference-count":42,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,9,21]],"date-time":"2021-09-21T00:00:00Z","timestamp":1632182400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30 CA023100"],"award-info":[{"award-number":["P30 CA023100"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objectives<\/jats:title><jats:p>Castleman disease (CD) is a heterogeneous group of disorders involving systemic inflammation and lymphoproliferation. Recently, clonal mutations have been identified in unicentric CD (UCD) and idiopathic multicentric CD (iMCD), suggesting a potential underlying neoplastic process.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Patients with UCD or iMCD with next generation sequencing (NGS) data on tissue DNA and\/or circulating tumor DNA (ctDNA) were included.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five patients were included, 4 with iMCD and 1 with UCD. Four patients (80%) were women; median age was 40\u00a0years. Three of five patients (60%) had \u22651 clonal mutation detected on biopsy among the genes included in the panel. One patient with iMCD had a 14q32\u20101p35 rearrangement and a der(1)dup(1)(q42q21)del(1)(q42) (1q21 being IL\u20106R locus) on karyotype. This patient also had a <jats:italic>NF1<\/jats:italic> K2459fs alteration on ctDNA (0.3%). Another patient with iMCD had a <jats:italic>KDM5C<\/jats:italic> Q836* mutation, and one patient with UCD had a <jats:italic>TNS3\u2010ALK<\/jats:italic> fusion but no ALK expression by immunohistochemistry.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>We report 4 novel somatic alterations found in patients with UCD or iMCD. The 1q21 locus contains IL\u20106R, and duplication of this locus may increase IL\u20106 expression. These findings suggest that a clonal process may be responsible for the inflammatory phenotype in some patients with UCD and iMCD.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.13702","type":"journal-article","created":{"date-parts":[[2021,8,25]],"date-time":"2021-08-25T06:37:10Z","timestamp":1629873430000},"page":"642-649","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Novel somatic alterations in unicentric and idiopathic multicentric Castleman disease"],"prefix":"10.1111","volume":"107","author":[{"given":"Aaron M.","family":"Goodman","sequence":"first","affiliation":[{"name":"Division of Blood and Marrow Transplantation Department of Medicine University of California San Diego La Jolla California 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