{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T15:14:57Z","timestamp":1787238897842,"version":"build-2736575974"},"reference-count":20,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T00:00:00Z","timestamp":1628812800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Int J Lab Hematology"],"published-print":{"date-parts":[[2021,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>Juvenile myelomonocytic leukemia (JMML) is a rare childhood neoplasm (&lt;5% cases), which has been categorized under myelodysplastic\/myeloproliferative neoplasms (MDS\/MPN) in the recent classification by the World Health Organization.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We developed a 51\u2010gene (151.5kB) low\u2010cost targeted myeloid panel based on single\u2010molecule molecular inversion probes to comprehensively evaluate the genomic profile of Juvenile myelomonocytic leukemia (JMML).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A total of 50 children with clinical and pathological features of JMML were sequenced at high coverage. Among the 50 patients, 44(88%) harbored mutations in one of the RAS\/MAPK\u2010pathway genes, most frequently in\n                      <jats:italic>NRAS<\/jats:italic>\n                      (32%), followed by\n                      <jats:italic>PTPN11<\/jats:italic>\n                      (28%) and\n                      <jats:italic>NF1<\/jats:italic>\n                      (22%). One\u2010fifth of children had more than one mutation, with 5 cases harboring two RAS pathway mutations. Monosomy 7 was detected in 32% (16) patients, and five of these did not harbor any RAS pathway mutations. Children with monosomy 7 showed shorter overall survival compared with their wild\u2010type counterparts (\n                      <jats:italic>P<\/jats:italic>\n                      \u00a0=\u00a0.02).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>Our study highlights that comprehensive genomic profiling identifies at least one mutation in almost 90% of JMML patients. Performing genomic analysis at baseline might help in triaging children with JMML for allogenic stem cell transplant in resource\u2010constrained settings.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/ijlh.13680","type":"journal-article","created":{"date-parts":[[2021,8,13]],"date-time":"2021-08-13T11:59:11Z","timestamp":1628855951000},"page":"1531-1538","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Mutational landscape of Juvenile Myelomonocytic Leukemia (JMML)\u2014A real\u2010world context"],"prefix":"10.1111","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6006-6309","authenticated-orcid":false,"given":"Shrinidhi","family":"Nathany","sequence":"first","affiliation":[{"name":"Department of Hematopathology Advanced Centre for Treatment and Research in Cancer Tata Memorial Centre Mumbai India"},{"name":"Homi Bhabha National Institute (HBNI) Mumbai 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