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Next\u2010generation sequencing (NGS) and DNA methylation profiling used for diagnostic and risk stratification purposes are now standard of care in Europe and the United States for patients with JMML. To better understand how implementing these types of technologies would impact the treatment of JMML patients in different settings, molecular profiling was performed on 81 patients treated for JMML in Egypt from 2009 to 2022. NGS increased the number of patients with a molecular diagnosis compared to conventional Sanger sequencing. NGS and DNA methylation analysis also identified patients with a higher risk for relapse based on the presence of multiple mutations or intermediate\/high methylation respectively. Mutational burden, cytogenetics and methylation subgrouping were combined to develop a risk stratification model that may help to prioritize patients for haematopoietic stem cell transplantation. In summary, advanced molecular testing is key to enabling an accurate diagnosis and predicting outcome in JMML.<\/jats:p>","DOI":"10.1111\/bjh.70106","type":"journal-article","created":{"date-parts":[[2025,9,1]],"date-time":"2025-09-01T01:45:18Z","timestamp":1756691118000},"page":"1938-1943","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Clinical and molecular characterization of patients with juvenile myelomonocytic leukaemia"],"prefix":"10.1111","volume":"207","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5945-9885","authenticated-orcid":false,"given":"Julia A.","family":"Meyer","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Benioff Children's Hospitals University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sherin","family":"Xirenayi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Benioff Children's Hospitals University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Juwita","family":"Werner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Benioff Children's Hospitals University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rust","family":"Turakulov","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology, Center for Cancer Research, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aaron","family":"Hechmer","sequence":"additional","affiliation":[{"name":"Helen Diller Family Comprehensive Cancer Center University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zied","family":"Abdullaev","sequence":"additional","affiliation":[{"name":"Laboratory of Pathology, Center for Cancer Research, National Cancer Institute National Institutes of Health  Bethesda Maryland USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nayera","family":"Hamdy","sequence":"additional","affiliation":[{"name":"Department of Clinical Pathology National Cancer Institute Cairo University  Cairo Egypt"},{"name":"Department of Clinical Pathology Children's Cancer Hospital Egypt (CCHE\u201057357)  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Olshen","sequence":"additional","affiliation":[{"name":"Helen Diller Family Comprehensive Cancer Center University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7032-4623","authenticated-orcid":false,"given":"Elliot","family":"Stieglitz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Benioff Children's Hospitals University of California San Francisco  San Francisco California USA"},{"name":"Helen Diller Family Comprehensive Cancer Center University of California San Francisco  San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mahmoud","family":"Hammad","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology National Cancer Institute Cairo University  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alaa","family":"Elhaddad","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology National Cancer Institute Cairo University  Cairo Egypt"},{"name":"Department of Pediatric Oncology Children's Cancer Hospital Egypt (CCHE\u201057357)  Cairo Egypt"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,31]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1182\/bloodadvances.2021005117"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.3400"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-02178-9"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-017-02177-w"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood-2017-07-798157"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1158\/1078-0432.CCR-20-3184"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.clml.2020.02.003"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2020.270595"},{"key":"e_1_2_9_10_1","unstructured":"HovestadtV ConumeeMZ.Conumee: enhanced copy\u2010number variation analysis using Illumina DNA methylation arrays.2017. 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