{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T01:13:08Z","timestamp":1783905188583,"version":"3.55.0"},"reference-count":14,"publisher":"SAGE Publications","license":[{"start":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T00:00:00Z","timestamp":1783555200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"abstract":"<jats:p>\n                    We report an unusual case of juvenile myelomonocytic leukemia (JMML) in a 4-year-old male who had persistent monocytosis and intermittent anemia and thrombocytopenia beginning at 1\u2009year of age. Given a history of recurrent skin infections, the patient initially received an evaluation for a primary immune disorder, but workup was inconclusive. Bone marrow examination was performed to further evaluate persistent and progressive cytopenias. The findings fulfilled the criteria for JMML with peripheral blood monocytosis \u2265 1\u00d710\n                    <jats:sup>9<\/jats:sup>\n                    \/L, blast\/promonocyte percentage of &lt;20% in peripheral blood and bone marrow, clinical evidence of organ infiltration with hepatosplenomegaly, and absent\n                    <jats:italic toggle=\"yes\">BCR::ABL1<\/jats:italic>\n                    fusion and\n                    <jats:italic toggle=\"yes\">KMT2A<\/jats:italic>\n                    gene rearrangements. Additionally, next generation sequencing (NGS) studies performed on the bone marrow aspirate revealed multiple acquired somatic mutations, including a\n                    <jats:italic toggle=\"yes\">KRAS<\/jats:italic>\n                    G12D mutation, meeting criteria for the diagnosis of JMML in the context of this case. A novel\n                    <jats:italic toggle=\"yes\">ETV6<\/jats:italic>\n                    R369W mutation in the setting of JMML was also detected, which may explain the striking megakaryocytic dysplasia in the bone marrow beyond what is typically seen in JMML. This case showed interesting features overlapping with Ras-associated autoimmune leukoproliferative disorder (RALD), including monocytosis and recurrent infections. Furthermore, this case demonstrated a need for more definitive criteria for distinguishing JMML from RALD.\n                  <\/jats:p>","DOI":"10.1177\/10935266261466228","type":"journal-article","created":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T12:46:01Z","timestamp":1783601161000},"update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Juvenile Myelomonocytic Leukemia Presenting with Unusual Immunonologic Manifestations: Report of a Case with Multiple Somatic Genetic Aberrations Including\n                    <i>KRAS<\/i>\n                    and Novel\n                    <i>ETV6<\/i>\n                    Mutations"],"prefix":"10.1177","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-4409-1966","authenticated-orcid":false,"given":"Kristina R.","family":"Brannock","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, OH, USA"},{"name":"Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0145-6005","authenticated-orcid":false,"given":"Benjamin","family":"Kaumeyer","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, OH, USA"},{"name":"Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kathleen K.","family":"Nicol","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, OH, USA"},{"name":"Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8447-063X","authenticated-orcid":false,"given":"Lionel M. L.","family":"Chow","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology\/Oncology, Dayton Children\u2019s Hospital, Dayton, OH, USA"},{"name":"Wright State University Boonshoft School of Medicine, Dayton, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemalatha G.","family":"Rangarajan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hematology, Oncology, Blood and Bone Marrow Transplant, Nationwide Children\u2019s Hospital, Columbus, OH, USA"},{"name":"Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8944-2128","authenticated-orcid":false,"given":"Samir B.","family":"Kahwash","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine, Nationwide Children\u2019s Hospital, Columbus, OH, USA"},{"name":"Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2026,7,9]]},"reference":[{"key":"e_1_3_3_2_2","unstructured":"WHO Classification of Tumours Editorial Board. Haematolymphoid Tumours. International Agency for Research on Cancer; 2024. Accessed April 28 2026. (WHO classification of tumours series 5th ed.; vol. 11). https:\/\/tumourclassification.iarc.who.int\/chapters\/63."},{"key":"e_1_3_3_3_2","volume-title":"WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues","author":"Swerdlow SH","year":"2017","unstructured":"Swerdlow SH, Campo E, Harris NL, et al. (Eds). WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. Revised 4th ed. IARC; 2017."},{"key":"e_1_3_3_4_2","doi-asserted-by":"crossref","unstructured":"Neven Q Boulanger C Bruwier A et al. Clinical spectrum of Ras-associated autoimmune leukoproliferative disorder (RALD). J Clin Immunol. 2021;41(1):51-58. https:\/\/doi.org\/10.1007\/s10875-020-00883-7","DOI":"10.1007\/s10875-020-00883-7"},{"key":"e_1_3_3_5_2","doi-asserted-by":"crossref","unstructured":"Calvo KR Price S Braylan RC et al. JMML and RALD (Ras-associated autoimmune leukoproliferative disorder): common genetic etiology yet clinically distinct entities. Blood. 2015; 125(18):2753-2758. https:\/\/doi.org\/10.1182\/blood-2014-11-567917","DOI":"10.1182\/blood-2014-11-567917"},{"key":"e_1_3_3_6_2","doi-asserted-by":"crossref","unstructured":"Kurita D Shiba N Ohya T et al. Severe RAS-associated lymphoproliferative disease case with increasing \u03b1\u03b2 double-negative T cells with atypical features. J Clin Immunol. 2023;43(8):1992-1996. https:\/\/doi.org\/10.1007\/s10875-023-01566-9","DOI":"10.1007\/s10875-023-01566-9"},{"key":"e_1_3_3_7_2","doi-asserted-by":"crossref","unstructured":"Wang Q Dong S Yao H et al. ETV6 mutation in a cohort of 970 patients with hematologic malignancies. Haematologica. 2014;99(10):e176-e178. https:\/\/doi.org\/10.3324\/haematol.2014.104406","DOI":"10.3324\/haematol.2014.104406"},{"key":"e_1_3_3_8_2","volume-title":"GeneReviews","author":"Pencheva B","year":"2020","unstructured":"Pencheva B, Di Paola J, Porter CC. ETV6-related thrombocytopenia and predisposition to leukemia. In: Adam MP, Bick S, Mirzaa GM, et al. eds. GeneReviews\u00ae. University of Washington; 2020."},{"key":"e_1_3_3_9_2","doi-asserted-by":"crossref","unstructured":"Melazzini F Palombo F Balduini A et al. Clinical and pathogenic features of ETV6-related thrombocytopenia with predisposition to acute lymphoblastic leukemia. Haematologica. 2016;101(11):1333-1342. https:\/\/doi.org\/10.3324\/haematol.2016.147496","DOI":"10.3324\/haematol.2016.147496"},{"key":"e_1_3_3_10_2","doi-asserted-by":"crossref","unstructured":"Zhang MY Churpek JE Keel SB et al. Germline ETV6 mutations in familial thrombocytopenia and hematologic malignancy. Nat Genet. 2015;47(2):180-185. https:\/\/doi.org\/10.1038\/ng.3177","DOI":"10.1038\/ng.3177"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/ijlh.12999"},{"key":"e_1_3_3_12_2","doi-asserted-by":"crossref","unstructured":"Poggi M Canault M Favier M et al. Germline variants in ETV6 underlie reduced platelet formation platelet dysfunction and increased levels of circulating CD34+ progenitors. Haematologica. 2017;102(2):282-294. https:\/\/doi.org\/10.3324\/haematol.2016.147694","DOI":"10.3324\/haematol.2016.147694"},{"key":"e_1_3_3_13_2","doi-asserted-by":"crossref","unstructured":"Topka S Vijai J Walsh MF et al. Germline ETV6 mutations confer susceptibility to acute lymphoblastic leukemia and thrombocytopenia. PLoS Genet. 2015;11(6):e1005262. https:\/\/doi.org\/10.1371\/journal.pgen.1005262","DOI":"10.1371\/journal.pgen.1005262"},{"key":"e_1_3_3_14_2","doi-asserted-by":"crossref","unstructured":"Feurstein S Godley LA. Germline ETV6 mutations and predisposition to hematological malignancies. Int J Hematol. 2017;106(2):189-195. https:\/\/doi.org\/10.1007\/s12185-017-2259-4","DOI":"10.1007\/s12185-017-2259-4"},{"key":"e_1_3_3_15_2","doi-asserted-by":"crossref","unstructured":"Takagi M Shinoda K Piao J et al. Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation. Blood. 2011;117(10):2887-2890. https:\/\/doi.org\/10.1182\/blood-2010-08-301515","DOI":"10.1182\/blood-2010-08-301515"}],"container-title":["Pediatric and Developmental Pathology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266261466228","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/10935266261466228","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/10935266261466228","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,7,13]],"date-time":"2026-07-13T00:44:32Z","timestamp":1783903472000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/10935266261466228"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,9]]},"references-count":14,"alternative-id":["10.1177\/10935266261466228"],"URL":"https:\/\/doi.org\/10.1177\/10935266261466228","relation":{},"ISSN":["1093-5266","1615-5742"],"issn-type":[{"value":"1093-5266","type":"print"},{"value":"1615-5742","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,9]]},"article-number":"10935266261466228"}}