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To date, various <jats:italic>PDGFRB\/<\/jats:italic>5q32 rearrangements, involving at least 40 fusion partners, have been reported. However, information on genomic and clinical features accompanying rearrangements of <jats:italic>PDGFRB<\/jats:italic> is still scarce. Here, we characterized a series of 14 cases with a myeloid neoplasm using cytogenetic, single nucleotide polymorphism array, and next-generation sequencing. We identified nine <jats:italic>PDGFRB<\/jats:italic> translocation partners, including the <jats:italic>KAZN<\/jats:italic> gene at 1p36.21 as a novel partner in a previously undescribed t(1;5)(p36;q33) chromosome change. In all cases, the <jats:italic>PDGFRB<\/jats:italic> recombination was the sole cytogenetic abnormality underlying the phenotype. Acquired somatic variants were mainly found in clinically aggressive diseases and involved epigenetic genes (<jats:italic>TET2<\/jats:italic>, <jats:italic>DNMT3A<\/jats:italic>, <jats:italic>ASXL1<\/jats:italic>), transcription factors (<jats:italic>RUNX1<\/jats:italic> and <jats:italic>CEBPA<\/jats:italic>), and signaling modulators (<jats:italic>HRAS<\/jats:italic>). By using both cytogenetic and nested PCR monitoring to evaluate response to imatinib, we found that, in non-AML cases, a low dosage (100\u2013200\u00a0mg) is sufficient to induce and maintain longstanding hematological, cytogenetic, and molecular remissions.<\/jats:p>","DOI":"10.1007\/s00277-021-04712-8","type":"journal-article","created":{"date-parts":[[2021,12,2]],"date-time":"2021-12-02T22:02:36Z","timestamp":1638482556000},"page":"297-307","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Genomic and clinical findings in myeloid neoplasms with PDGFRB rearrangement"],"prefix":"10.1007","volume":"101","author":[{"given":"Danika","family":"Di Giacomo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Quintini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Pierini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabrizia","family":"Pellanera","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roberta","family":"La Starza","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Gorello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Matteucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barbara","family":"Crescenzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo Fabio","family":"Fiumara","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinella","family":"Veltroni","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Erika","family":"Borlenghi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Albano","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fabio","family":"Forghieri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monica","family":"Maccaferri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Bettelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Luppi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Cuneo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Rossi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1623-0148","authenticated-orcid":false,"given":"Cristina","family":"Mecucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2021,12,2]]},"reference":[{"key":"4712_CR1","doi-asserted-by":"publisher","first-page":"e148","DOI":"10.3324\/haematol.2014.105452","volume":"99","author":"SL Ondrejka","year":"2014","unstructured":"Ondrejka SL, Jegalian AG, Kim AS, Chabot-Richards DS, Giltnane J, Czuchlewski DR, Shetty S, Sekeres MA, Yenamandra A, Head D, Jagasia M, His ED (2014) PDGFRB-rearranged T-lymphoblastic leukemia\/lymphoma occurring with myeloid neoplasms: the missing link supporting a stem cell origin. 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