{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T13:06:10Z","timestamp":1789563970364,"version":"build-2803163510"},"reference-count":18,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T00:00:00Z","timestamp":1775088000000},"content-version":"vor","delay-in-days":1,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"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":["Cancer Reports"],"published-print":{"date-parts":[[2026,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Thrombocytopenia\u2010absent radius (TAR) syndrome is a rare congenital disorder characterized by bilateral radial aplasia with preserved thumbs and early\u2010onset thrombocytopenia. While hematologic and skeletal abnormalities define the condition, its association with hematologic malignancies is extremely rare, with only a few reported cases of leukemia. Juvenile myelomonocytic leukemia (JMML) is an uncommon pediatric myelodysplastic\/myeloproliferative neoplasm frequently linked to RAS pathway mutations. To our knowledge, JMML has not previously been reported in association with TAR syndrome.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      We report the case of a male infant diagnosed with TAR syndrome based on clinical features and molecular confirmation of a homozygous\n                      <jats:italic>RBM8A<\/jats:italic>\n                      c.\u201021G&gt;A variant. The patient presented initially with persistent thrombocytopenia, skeletal deformities, and neonatal sepsis\u2010like manifestations. At 2\u2009years of age, he developed pancytopenia and progressive splenomegaly. Bone marrow evaluation and molecular testing confirmed JMML harboring a pathogenic\n                      <jats:italic>NF1<\/jats:italic>\n                      mutation. He underwent successful haploidentical hematopoietic stem cell transplantation (HSCT) from a sibling donor, following a conditioning regimen of melphalan, treosulfan, cyclophosphamide, and anti\u2010thymocyte globulin. The patient achieved full donor chimerism and hematologic remission with stable engraftment.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This case represents, to our knowledge, one of the very few\u2014if not the first\u2014reported instances of successful HSCT for JMML in a patient with TAR syndrome. It underscores the importance of vigilant surveillance in TAR patients for potential malignant transformation and demonstrates the curative potential of HSCT in rare congenital\u2010hematologic overlap syndromes.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/cnr2.70523","type":"journal-article","created":{"date-parts":[[2026,4,2]],"date-time":"2026-04-02T10:47:56Z","timestamp":1775126876000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Successful Haplo\u2010Hematopoietic Stem Cell Transplantation for Juvenile Myelomonocytic Leukemia in a Child With Underlying Thrombocytopenia\u2010Absent Radius Syndrome: A Unique Case"],"prefix":"10.1002","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3032-3666","authenticated-orcid":false,"given":"Sondus Al","family":"Sharidah","sequence":"first","affiliation":[{"name":"Pediatric Hematology\/Oncology and Stem Cell Transplant Unit NBK Specialized Hospital for Children  Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-9348-9906","authenticated-orcid":false,"given":"Ahmed","family":"Elhussien","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology and Stem Cell Transplant Unit NBK Specialized Hospital for Children  Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0008-1419-0374","authenticated-orcid":false,"given":"Walid I. A.","family":"Soliman","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology and Stem Cell Transplant Unit NBK Specialized Hospital for Children  Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6829-5675","authenticated-orcid":false,"given":"Nesma I.","family":"Ellithy","sequence":"additional","affiliation":[{"name":"Pediatric Hematology\/Oncology and Stem Cell Transplant Unit NBK Specialized Hospital for Children  Kuwait"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,4,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hemonc.2017.02.001"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0609.2003.00054.x"},{"key":"e_1_2_11_4_1","volume-title":"GeneReviews((R))","author":"Petit F.","year":"1993"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02737770"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200202000-00015"},{"issue":"3","key":"e_1_2_11_7_1","first-page":"335","article-title":"Acute Lymphoidic Leukemia in a Patient With Thrombocytopenia\/Absent Radii (Tar) Syndrome","volume":"15","author":"Camitta B. M.","year":"1993","journal-title":"American Journal of Pediatric Hematology\/Oncology"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41375-022-01613-1"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1055\/a-2088-1801"},{"key":"e_1_2_11_10_1","article-title":"Rbm8a Deficiency Causes Hematopoietic Defects by Modulating Wnt\/PCP Signaling","author":"Kocere A.","year":"2024","journal-title":"bioRxiv"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.1083"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.111.2.479"},{"issue":"10","key":"e_1_2_11_13_1","first-page":"3534","article-title":"Chronic Myelomonocytic Leukemia in Childhood: A Retrospective Analysis of 110 Cases. European Working Group on Myelodysplastic Syndromes in Childhood (EWOG\u2010MDS)","volume":"89","author":"Niemeyer C. 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