{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T04:46:44Z","timestamp":1791953204909,"version":"4.3.4"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:00:00Z","timestamp":1791849600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T00:00:00Z","timestamp":1791849600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J Hematopathol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>An adult man, from Southern Africa, presented to a public health centre with symptoms of progressive fatigue. Peripheral blood morphology showed marked basophilia and 21% myeloblasts, confirmed by flow cytometry, suggesting acute myeloid leukaemia with basophilia. Bone marrow biopsy revealed increased mast cells, raising systemic mastocytosis as a differential. However, next-generation sequencing identified a PDGFRA fusion, establishing the diagnosis of blast phase of a myeloid\/lymphoid neoplasm with PDGFRA rearrangement. The presence of cells with abnormal basophilic granulation and absence of peripheral blood eosinophilia, together with lengthy turnaround times (TAT) for specialised tests in the public health sector contributed to the delayed diagnosis. This case highlights the diagnostic challenges posed by overlapping morphological features and underscores the critical role of molecular testing in identifying rare but clinically significant tyrosine kinase fusion-driven haematological malignancies, which are highly responsive to targeted therapy.<\/jats:p>","DOI":"10.1007\/s12308-026-00743-0","type":"journal-article","created":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T21:44:50Z","timestamp":1791927890000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Myeloid neoplasm with PDGFRA rearrangement presenting in blast-phase with basophilia"],"prefix":"10.1007","volume":"19","author":[{"given":"Anne-Cecilia","family":"van Marle","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"family":"Evan Bowen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2026,10,13]]},"reference":[{"key":"743_CR1","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","volume":"36","author":"JD Khoury","year":"2022","unstructured":"Khoury JD, Solary E, Abla O et al (2022) The 5th edition of the World Health Organization classification of haematolymphoid tumours: myeloid and histiocytic\/dendritic neoplasms. 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Leukemia 37:1860\u20137. https:\/\/doi.org\/10.1038\/s41375-023-01958-1","journal-title":"Leukemia"},{"key":"743_CR4","doi-asserted-by":"publisher","first-page":"2541","DOI":"10.1182\/blood.2022019573","volume":"141","author":"G Coltro","year":"2023","unstructured":"Coltro G, Santi R (2023) A challenging diagnosis of myeloid\/lymphoid neoplasm with eosinophilia and FIP1L1::PDGFRA rearrangement. Blood 141:2541. https:\/\/doi.org\/10.1182\/blood.2022019573","journal-title":"Blood"},{"key":"743_CR5","doi-asserted-by":"publisher","first-page":"92","DOI":"10.1182\/blood.2023022256","volume":"143","author":"N Iranzad","year":"2024","unstructured":"Iranzad N, Carlsen ED (2024) Eosinophil atypia in a myeloid\/lymphoid neoplasm with PDGFRA rearrangement. Blood 143:92. https:\/\/doi.org\/10.1182\/blood.2023022256","journal-title":"Blood"},{"key":"743_CR6","doi-asserted-by":"publisher","first-page":"704","DOI":"10.1182\/blood","volume":"129","author":"A Reiter","year":"2017","unstructured":"Reiter A, Gotlib J (2017) Myeloid neoplasms with eosinophilia. Blood Review Series 129:704\u2013714. https:\/\/doi.org\/10.1182\/blood","journal-title":"Blood Review Series"},{"key":"743_CR7","doi-asserted-by":"publisher","first-page":"1097","DOI":"10.1002\/ajh.26962","volume":"98","author":"A Pardanani","year":"2023","unstructured":"Pardanani A (2023) Systemic mastocytosis in adults: 2023 update on diagnosis, risk stratification and management. Am J Hematol 98:1097\u20131116. https:\/\/doi.org\/10.1002\/ajh.26962","journal-title":"Am J Hematol"},{"key":"743_CR8","unstructured":"Arber A, Brunning D, Orazi A, et al. Acute myeloid leukaemia with recurrent genetic abnormalities. . In: Swerdlow S, CE, HNL, JE, PS, SH, TJ, ed. WHO classification of tumours of haematopoietic and lymphoid tissues. Lyon, France: International Agency for Research on Cancer (IARC) 2017:137\u20138."},{"key":"743_CR9","doi-asserted-by":"publisher","first-page":"1345","DOI":"10.1182\/blood.2022016867","volume":"140","author":"H D\u00f6hner","year":"2022","unstructured":"D\u00f6hner H, Wei AH, Appelbaum FR et al (2022) Diagnosis and management of AML in adults: 2022 recommendations from an international expert panel on behalf of the ELN. Blood 140:1345\u20131377. https:\/\/doi.org\/10.1182\/blood.2022016867","journal-title":"Blood"},{"key":"743_CR10","unstructured":"Loghavi S, Cross N, Haferlach C (2024) Myeloid\/lymphoid neoplasm with PDGFRA rearrangement. In: Ahmed F, Cree I, De Jong D (eds) WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues. International Agency for Research on Cancer (IARC), Lyon, France, pp 185\u20136"},{"key":"743_CR11","doi-asserted-by":"publisher","first-page":"69","DOI":"10.5045\/br.2022.2021138","volume":"57","author":"JG Choi","year":"2022","unstructured":"Choi JG, Cho DY (2022) Myeloproliferative neoplasm with basophilia and abnormality of platelet-derived growth factor receptor a translocation: a case report. Blood Res 57:69\u201374. https:\/\/doi.org\/10.5045\/br.2022.2021138","journal-title":"Blood Res"},{"key":"743_CR12","doi-asserted-by":"crossref","unstructured":"Bain BJ (2015) Morphology of Blood Cells. Blood Cells: A Practical Guide. Wiley Blackwell, Oxford, pp 119\u201323","DOI":"10.1002\/9781118817322"},{"key":"743_CR13","doi-asserted-by":"crossref","unstructured":"Radia DH, Green A, Oni C et al (2020) The clinical and pathological panoply of systemic mastocytosis. 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