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We report a case of extramedullary involvement and leukemic transformation in myeloproliferative neoplasm (MPN), where <jats:italic>ETV6<\/jats:italic>::<jats:italic>ABL1 <\/jats:italic>was initially overlooked but later detected in the blast phase. <jats:italic>ETV6<\/jats:italic>::<jats:italic>ABL1 <\/jats:italic>burden was very low during the MPN phase but increased substantially during the blast phase. This correlation between <jats:italic>ETV6<\/jats:italic>::<jats:italic>ABL1 <\/jats:italic>burden and disease phenotype indicated that an immature leukemic clone is the sole carrier of <jats:italic>ETV6<\/jats:italic>::<jats:italic>ABL1<\/jats:italic>, suggesting that <jats:italic>ETV6<\/jats:italic>::<jats:italic>ABL1 <\/jats:italic>is not the primary driver of the MPN phase. Moreover, only the blast phase revealed somatic mutations in <jats:italic>RUNX1 <\/jats:italic>and <jats:italic>STAG2<\/jats:italic>, or complex karyotype, while the MPN phase revealed no molecular and cytogenetic abnormalities. Therefore, it remains uncertain whether the small clone of <jats:italic>ETV6<\/jats:italic>::<jats:italic>ABL1 <\/jats:italic>influenced the manifestation of MPN or if another underlying driver was responsible for the MPN phase, necessitating further research.<\/jats:p>","DOI":"10.1007\/s00428-024-03881-x","type":"journal-article","created":{"date-parts":[[2024,7,27]],"date-time":"2024-07-27T10:01:57Z","timestamp":1722074517000},"page":"735-741","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["ETV6::ABL1 fusion: from overlooked minor clone in myeloproliferative neoplasm to major player in leukemic transformation"],"prefix":"10.1007","volume":"485","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4169-0576","authenticated-orcid":false,"given":"Hyun-Woo","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-4482-3098","authenticated-orcid":false,"given":"Min-Seung","family":"Park","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5695-8902","authenticated-orcid":false,"given":"Boram","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5474-6807","authenticated-orcid":false,"given":"Chul Won","family":"Jung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3741-4613","authenticated-orcid":false,"given":"Hee-Jin","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0553-7096","authenticated-orcid":false,"given":"Hyun-Young","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,27]]},"reference":[{"key":"3881_CR1","doi-asserted-by":"crossref","unstructured":"Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, Bejar R, Berti E, Busque L, Chan JKC, Chen W, Chen X, Chng WJ, Choi JK, Colmenero I, Coupland SE, Cross NCP, De Jong D, Elghetany MT, Takahashi E, Emile JF, Ferry J, Fogelstrand L, Fontenay M, Germing U, Gujral S, Haferlach T, Harrison C, Hodge JC, Hu S, Jansen JH, Kanagal-Shamanna R, Kantarjian HM, Kratz CP, Li XQ, Lim MS, Loeb K, Loghavi S, Marcogliese A, Meshinchi S, Michaels P, Naresh KN, Natkunam Y, Nejati R, Ott G, Padron E, Patel KP, Patkar N, Picarsic J, Platzbecker U, Roberts I, Schuh A, Sewell W, Siebert R, Tembhare P, Tyner J, Verstovsek S, Wang W, Wood B, Xiao W, Yeung C, Hochhaus A (2022) The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: myeloid and histiocytic\/dendritic neoplasms. 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