{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,16]],"date-time":"2026-06-16T21:57:34Z","timestamp":1781647054552,"version":"3.54.5"},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T00:00:00Z","timestamp":1775433600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T00:00:00Z","timestamp":1775433600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100010607","name":"Universit\u00e0 degli Studi di Perugia","doi-asserted-by":"crossref","id":[{"id":"10.13039\/501100010607","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Familial Cancer"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Constitutional\n                    <jats:italic>RUNX1<\/jats:italic>\n                    gene variants are associated with Familial Platelet Disorder (FPD) and predispose to a variety of hematological malignancies, included Acute Myeloid Leukemia (AML) and, albeit less frequently, Acute Lymphoblastic Leukemia (ALL). In this study, we report on a proband with primary diagnosis of AML, followed by T-ALL after transplant, and a positive familial history for leukemia over three generations. A new heterozygous germline pathogenic\n                    <jats:italic>RUNX1<\/jats:italic>\n                    (c.681dup, p.(Leu228ThrfsTer33)) variant was found in the proband and his affected mother.\n                  <\/jats:p>","DOI":"10.1007\/s10689-026-00550-7","type":"journal-article","created":{"date-parts":[[2026,4,6]],"date-time":"2026-04-06T06:12:20Z","timestamp":1775455940000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A new c.681dup RUNX1 variant in familial leukemia"],"prefix":"10.1007","volume":"25","author":[{"given":"Maria","family":"Crocioni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlotta","family":"Nardelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anair Graciela","family":"Lema Fernandez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Bardelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Pierini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caterina","family":"Matteucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eloise","family":"Beggiato","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matteo","family":"Olivi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valentina","family":"Vigliani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandra","family":"Pelle","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Lanzarone","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Mecucci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,4,6]]},"reference":[{"key":"550_CR1","doi-asserted-by":"publisher","first-page":"726","DOI":"10.1007\/s12185-013-1347-3","volume":"97","author":"M Ichikawa","year":"2013","unstructured":"Ichikawa M, Yoshimi A, Nakagawa M et al (2013) A role for RUNX1 in hematopoiesis and myeloid leukemia. Int J Hematol 97:726\u2013734. https:\/\/doi.org\/10.1007\/s12185-013-1347-3","journal-title":"Int J Hematol"},{"key":"550_CR2","doi-asserted-by":"publisher","unstructured":"Sood R, Kamikubo Y, Liu P (2018) Role of RUNX1 in hematological malignancies. Blood. 2017;129(15):2070\u20132082. Blood 131:373\u2013373. https:\/\/doi.org\/10.1182\/blood-2017-12-819789","DOI":"10.1182\/blood-2017-12-819789"},{"key":"550_CR3","doi-asserted-by":"publisher","first-page":"502","DOI":"10.1038\/nrc840","volume":"2","author":"NA Speck","year":"2002","unstructured":"Speck NA, Gilliland DG (2002) Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer 2:502\u2013513. https:\/\/doi.org\/10.1038\/nrc840","journal-title":"Nat Rev Cancer"},{"key":"550_CR4","doi-asserted-by":"publisher","first-page":"2568","DOI":"10.1080\/10428194.2019.1587756","volume":"60","author":"S Rajpal","year":"2019","unstructured":"Rajpal S, Jain A, Jamwal M et al (2019) A novel germline RUNX1 mutation with co-occurrence of somatic alterations in a case of myeloid neoplasm with familial thrombocytopenia: first report from India. Leuk Lymphoma 60:2568\u20132571. https:\/\/doi.org\/10.1080\/10428194.2019.1587756","journal-title":"Leuk Lymphoma"},{"key":"550_CR5","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1007\/s12185-017-2258-5","volume":"106","author":"Y Hayashi","year":"2017","unstructured":"Hayashi Y, Harada Y, Huang G, Harada H (2017) Myeloid neoplasms with germ line RUNX1 mutation. Int J Hematol 106:183\u2013188. https:\/\/doi.org\/10.1007\/s12185-017-2258-5","journal-title":"Int J Hematol"},{"key":"550_CR6","doi-asserted-by":"publisher","first-page":"3004","DOI":"10.3324\/haematol.2021.278762","volume":"106","author":"CC Homan","year":"2021","unstructured":"Homan CC, King-Smith SL, Lawrence DM et al (2021) The RUNX1 database (RUNX1db): establishment of an expert curated RUNX1 registry and genomics database as a public resource for familial platelet disorder with myeloid malignancy. haematol 106:3004\u20133007. https:\/\/doi.org\/10.3324\/haematol.2021.278762","journal-title":"haematol"},{"key":"550_CR7","doi-asserted-by":"publisher","first-page":"e70057","DOI":"10.1002\/hem3.70057","volume":"9","author":"MPT Ernst","year":"2025","unstructured":"Ernst MPT, Versluis J, Valk PJM et al (2025) Disease characteristics and outcomes of acute myeloid leukemia in germline RUNX1 deficiency (Familial platelet disorder with associated myeloid malignancy). 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Written consent for sample collection and scientific analyses was obtained from patients, parents, or tutors.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethical approval"}}],"article-number":"37"}}