{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T19:22:32Z","timestamp":1772997752537,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T00:00:00Z","timestamp":1766966400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T00:00:00Z","timestamp":1766966400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    <jats:italic>CBL<\/jats:italic>\n                    syndrome is caused by a heterozygous germline mutation in the\n                    <jats:italic>CBL<\/jats:italic>\n                    gene. It is a rare RASopathy that shares many clinical features with mild forms of Noonan syndrome. These patients have a higher risk of developing juvenile myelomonocytic leukaemia (JMML) during early childhood. Here we report a case of an 11\u2010month\u2010old infant with JMML and\n                    <jats:italic>CBL<\/jats:italic>\n                    syndrome. It was caused by a heterozygous de novo germline mutation in the\n                    <jats:italic>CBL<\/jats:italic>\n                    gene and acquired biallelic inactivation of the gene through copy\u2010neutral loss of heterozygosity (CN\u2010LOH) in haematological cells.\n                    <jats:italic>CBL<\/jats:italic>\n                    mutation was not found in parents and siblings. CN\u2010LOH was confirmed by single nucleotide polymorphism array. This patient presented with an aggressive clinical course and required an allogeneic stem cell transplant.\n                  <\/jats:p>","DOI":"10.1111\/ijlh.70055","type":"journal-article","created":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T07:26:13Z","timestamp":1767079573000},"page":"476-480","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["<scp>\n                      <i>CBL<\/i>\n                    <\/scp>\n                    \u2010Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on\n                    <scp>11q<\/scp>\n                    Detected by Microarray: Not Always Such a Favourable Outcome"],"prefix":"10.1111","volume":"48","author":[{"given":"Victoria","family":"Salvadores\u2010\u00c1lvarez","sequence":"first","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1gueda","family":"Molinos\u2010Quintana","sequence":"additional","affiliation":[{"name":"Pediatric Unit, Department of Haematology University Hospital Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS)\/CSIC, Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7179-0693","authenticated-orcid":false,"given":"Rosario M.","family":"Morales\u2010Camacho","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eusebio","family":"Mart\u00edn\u2010Chac\u00f3n","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marta","family":"Reinoso Segura","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4415-4581","authenticated-orcid":false,"given":"M. Teresa","family":"Vargas","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Estrella","family":"Carrillo\u2010Cruz","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Soria\u2010Saldise","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3022-3427","authenticated-orcid":false,"given":"Concepci\u00f3n","family":"Prats\u2010Mart\u00edn","sequence":"additional","affiliation":[{"name":"Unidad de Gesti\u00f3n Cl\u00ednica (UGC) de Hematolog\u00eda, Hospital Universitario Virgen del Roc\u00edo, Instituto de Biomedicina de Sevilla (IBIS\/CSIC\/CIBERONC), Universidad de Sevilla  Sevilla 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