Isolated thrombocytosis with BCR::ABL1 gene rearrangement – a distinct entity or a variant of chronic myelogenous leukemia (CML)? Case report and review of literature
•Isolated thrombocytosis with BCR::ABL1 is rare.•Most cases are asymptomatic.•BCR::ABL1 gene rearrangement is confined to megakaryocytes.•qPCR is most efficient in diagnosis of BCR::ABL1 gene rearrangement.•Timely diagnosis is vital for targeted therapy. Chronic myeloid leukemia (CML) with isolated...
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| Vydáno v: | Human Pathology Reports Ročník 41; s. 300785 |
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01.09.2025
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| Abstract | •Isolated thrombocytosis with BCR::ABL1 is rare.•Most cases are asymptomatic.•BCR::ABL1 gene rearrangement is confined to megakaryocytes.•qPCR is most efficient in diagnosis of BCR::ABL1 gene rearrangement.•Timely diagnosis is vital for targeted therapy.
Chronic myeloid leukemia (CML) with isolated thrombocytosis and the absence of other significant morphological and/or clinical features of CML poses a diagnostic dilemma. Thrombocytosis in the setting of CML is usually accompanied by significant leukocytosis (usually above 25 K/mcL), prompting testing to detect the disease-defining BCR::ABL1 gene rearrangement, which is present in multiple hematopoietic lineages. In CML cases with isolated thrombocytosis, patients present without symptoms and the thrombocytosis is typically discovered incidentally. In contrast to classic cases of CML, cases with isolated thrombocytosis have shown that the abnormal clone is confined to the megakaryocyte lineage resulting in a normal conventional karyotype and FISH results, if performed on the peripheral blood.
Here, we report another case of this rare entity and review the literature. We also suggest that this entity may deserve a separate and distinct entry in the WHO classification of tumors of hematopoietic and lymphoid tissues. |
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| AbstractList | •Isolated thrombocytosis with BCR::ABL1 is rare.•Most cases are asymptomatic.•BCR::ABL1 gene rearrangement is confined to megakaryocytes.•qPCR is most efficient in diagnosis of BCR::ABL1 gene rearrangement.•Timely diagnosis is vital for targeted therapy.
Chronic myeloid leukemia (CML) with isolated thrombocytosis and the absence of other significant morphological and/or clinical features of CML poses a diagnostic dilemma. Thrombocytosis in the setting of CML is usually accompanied by significant leukocytosis (usually above 25 K/mcL), prompting testing to detect the disease-defining BCR::ABL1 gene rearrangement, which is present in multiple hematopoietic lineages. In CML cases with isolated thrombocytosis, patients present without symptoms and the thrombocytosis is typically discovered incidentally. In contrast to classic cases of CML, cases with isolated thrombocytosis have shown that the abnormal clone is confined to the megakaryocyte lineage resulting in a normal conventional karyotype and FISH results, if performed on the peripheral blood.
Here, we report another case of this rare entity and review the literature. We also suggest that this entity may deserve a separate and distinct entry in the WHO classification of tumors of hematopoietic and lymphoid tissues. Highlights•Isolated thrombocytosis with BCR::ABL1 is rare. •Most cases are asymptomatic. •BCR::ABL1 gene rearrangement is confined to megakaryocytes. •qPCR is most efficient in diagnosis of BCR::ABL1 gene rearrangement. •Timely diagnosis is vital for targeted therapy. Chronic myeloid leukemia (CML) with isolated thrombocytosis and the absence of other significant morphological and/or clinical features of CML poses a diagnostic dilemma. Thrombocytosis in the setting of CML is usually accompanied by significant leukocytosis (usually above 25 K/mcL), prompting testing to detect the disease-defining BCR::ABL1 gene rearrangement, which is present in multiple hematopoietic lineages. In CML cases with isolated thrombocytosis, patients present without symptoms and the thrombocytosis is typically discovered incidentally. In contrast to classic cases of CML, cases with isolated thrombocytosis have shown that the abnormal clone is confined to the megakaryocyte lineage resulting in a normal conventional karyotype and FISH results, if performed on the peripheral blood.Here, we report another case of this rare entity and review the literature. We also suggest that this entity may deserve a separate and distinct entry in the WHO classification of tumors of hematopoietic and lymphoid tissues. |
| ArticleNumber | 300785 |
| Author | Purnell, Gabriel Flores, Raina R. Prajapati, Vipulkumar Velagaleti, Gopalrao V.N. Kane, Sheila Nooruddin, Zohra I. Rodriguez, Juana Medina, Edward A. Ehman, William Ortega, Veronica |
| Author_xml | – sequence: 1 givenname: Vipulkumar surname: Prajapati fullname: Prajapati, Vipulkumar organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 2 givenname: Raina R. surname: Flores fullname: Flores, Raina R. organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 3 givenname: Zohra I. surname: Nooruddin fullname: Nooruddin, Zohra I. organization: Departments of Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 4 givenname: Edward A. surname: Medina fullname: Medina, Edward A. organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 5 givenname: Gabriel surname: Purnell fullname: Purnell, Gabriel organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 6 givenname: William surname: Ehman fullname: Ehman, William organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 7 givenname: Juana surname: Rodriguez fullname: Rodriguez, Juana organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 8 givenname: Sheila surname: Kane fullname: Kane, Sheila organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 9 givenname: Veronica surname: Ortega fullname: Ortega, Veronica organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States – sequence: 10 givenname: Gopalrao V.N. orcidid: 0000-0003-2811-8185 surname: Velagaleti fullname: Velagaleti, Gopalrao V.N. email: velagaleti@uthscsa.edu organization: Departments of Pathology and Laboratory Medicine, UT-Health San Antonio, San Antonio, TX, United States |
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| Keywords | FISH qPCR Megakaryocytes Isolated thrombocytosis with BCR::ABL1 gene rearrangement |
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| References | van Kooten Niekerk, Roug, Nederby, Petersen, Ommen, Kjeldsen, Bendix, Nyvold, Hokland (b0100) 2012; 21 Han, Han, Mao, Wang, Li, Xiao, Meng, Tian, Hong (b0140) 2022; 50 Notle, Werner, Ewig, von Wasielewski, Wilkens, Georgii (b0045) 1995; 26 Yilmaz, Guvercin, Konca (b0115) 2016; 9 Swerdlow, Campo, Harris (b0020) 2017 Jabbour, Kantarjian (b0060) 2022; 97 Breccia, Cannella, Diverio, Streponi, Nanni, Stefanizzi, Natalina, Mecarocci, Alimena (b0095) 2008; 32 Boklan, Walsh, de la Maza, Su, Nizzi, Schafernak (b0120) 2018; 40 Schoch, Schnittger, Bursch, Gerstner, Hochhaus, Berger, Hehlmann, Hiddemann, Haferläch (b0025) 2002; 16 Haferlach, Winkemann, Nickenig, Meeder, Ramm-Petersen, Schoch, Nickelsen, Weber-Matthiesen, Schlegelberger, Schoch, Gassmann, Loffler (b0035) 1997; 97 Byun, Park, Lee, Choi, Lee (b0105) 2014; 49 Rice, Popat (b0090) 2005; 78 Findakly, Arslan (b0065) 2020; 12 Aslan, Iltar, Ozen, Gocer, Celik, Kurtoglue, Erkal (b0135) 2019; 3 Soliman, Abdulla, Sabbagh, Akiki, Ibrahim, Mustafa, Yassin (b0130) 2019; 9 Ebrahem, Ahmed, Kadhem, Truong (b0110) 2016; 8 (b0055) 2020 Huho, Issaq, Iacobas, Elghetany, Lopez-Terrada, Fisher, Punia (b0125) 2018; 21 Michiels, Berneman, Schroyens, Kutti, Swolin, Ridell, Fernando, Zanetto (b0070) 2004; 83 Sandberg (b0040) 1990 Nowell, Hungerford (b0005) 1960; 132 Fadilah, Cheong (b0075) 2000; 41 Rowley (b0010) 1973; 243 Heisterkamp, Stephenson, Groffen, Hansen, de Klein, Bartram, Grosveld (b0015) 1983; 306 Damaj, Delabesse, Le Bihan, Asnafi, Rachid, Lefrere, Radford-Weiss, Macintyre, Hermine, Varet (b0080) 2002; 116 Fialkow, Jacobson, Papayannopoulou (b0030) 1977; 63 Findakly, Arslan (b0050) 2020; 12 Girodon, Bailly, Barry, Favre, Carli, Mugneret, Teyssier, Maynadie (b0085) 2005; 84 Notle (10.1016/j.hpr.2025.300785_b0045) 1995; 26 Haferlach (10.1016/j.hpr.2025.300785_b0035) 1997; 97 Fadilah (10.1016/j.hpr.2025.300785_b0075) 2000; 41 Findakly (10.1016/j.hpr.2025.300785_b0050) 2020; 12 Rice (10.1016/j.hpr.2025.300785_b0090) 2005; 78 Ebrahem (10.1016/j.hpr.2025.300785_b0110) 2016; 8 Swerdlow (10.1016/j.hpr.2025.300785_b0020) 2017 Breccia (10.1016/j.hpr.2025.300785_b0095) 2008; 32 Soliman (10.1016/j.hpr.2025.300785_b0130) 2019; 9 Huho (10.1016/j.hpr.2025.300785_b0125) 2018; 21 Yilmaz (10.1016/j.hpr.2025.300785_b0115) 2016; 9 van Kooten Niekerk (10.1016/j.hpr.2025.300785_b0100) 2012; 21 Rowley (10.1016/j.hpr.2025.300785_b0010) 1973; 243 Fialkow (10.1016/j.hpr.2025.300785_b0030) 1977; 63 Findakly (10.1016/j.hpr.2025.300785_b0065) 2020; 12 Byun (10.1016/j.hpr.2025.300785_b0105) 2014; 49 Girodon (10.1016/j.hpr.2025.300785_b0085) 2005; 84 Sandberg (10.1016/j.hpr.2025.300785_b0040) 1990 Damaj (10.1016/j.hpr.2025.300785_b0080) 2002; 116 Schoch (10.1016/j.hpr.2025.300785_b0025) 2002; 16 (10.1016/j.hpr.2025.300785_b0055) 2020 Nowell (10.1016/j.hpr.2025.300785_b0005) 1960; 132 Boklan (10.1016/j.hpr.2025.300785_b0120) 2018; 40 Michiels (10.1016/j.hpr.2025.300785_b0070) 2004; 83 Aslan (10.1016/j.hpr.2025.300785_b0135) 2019; 3 Jabbour (10.1016/j.hpr.2025.300785_b0060) 2022; 97 Heisterkamp (10.1016/j.hpr.2025.300785_b0015) 1983; 306 Han (10.1016/j.hpr.2025.300785_b0140) 2022; 50 |
| References_xml | – volume: 21 start-page: 100 year: 2018 end-page: 104 ident: b0125 article-title: A rare case of pediatric chronic myelogenous leukemia presenting with severe thrombocytosis without leukocytosis publication-title: Pediatr. Dev. Pathol. – volume: 40 start-page: 456 year: 2018 end-page: 457 ident: b0120 article-title: Pediatric chronic myeloid leukemia presenting with extreme thrombocytosis simulating essential thrombocythemia publication-title: J. Pediatr. Hematol. Oncol. – volume: 116 start-page: 812 year: 2002 end-page: 816 ident: b0080 article-title: Typical essential thrombocythaemia does not express bcr-abelson fusion transcript publication-title: Br. J. Haematol. – volume: 243 start-page: 290 year: 1973 end-page: 291 ident: b0010 article-title: A new consistent chromosome abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining publication-title: Nature – volume: 97 start-page: 1236 year: 2022 end-page: 1256 ident: b0060 article-title: Chronic myeloid leukemia: 2022 update on diagnosis, therapy, and monitoring publication-title: Am. J. Hematol. – year: 1990 ident: b0040 article-title: The chromosomes in human cancer and leukemia – year: 2020 ident: b0055 publication-title: ISCN 2020. An International System for Cytogenetic Nomenclature – volume: 83 start-page: 504 year: 2004 end-page: 512 ident: b0070 article-title: Philadelphia (Ph) chromosome-positive thrombocythemia without features of chronic myeloid leukemia in peripheral blood: natural history and diagnostic differentiation from Ph-negative essential thrombocythemia publication-title: Ann. Hematol. – volume: 3 start-page: 891 year: 2019 ident: b0135 article-title: Three chronic myeloid leukemia cases that presented like essential thrombocythemia publication-title: HeaSphere – volume: 84 start-page: 409 year: 2005 end-page: 410 ident: b0085 article-title: Philadelphia chromosome – positive thrombocythemia without features of chronic myeloid leukemia (CML) in peripheral blood publication-title: Ann. Hematol. – volume: 63 start-page: 125 year: 1977 end-page: 130 ident: b0030 article-title: Chronic myelocytic leukemia: clonal origin in a stem cell common to granulocyte, erythrocyte, platelet and monocyte/macrophage publication-title: Am. J. Med. – volume: 306 start-page: 239 year: 1983 end-page: 242 ident: b0015 article-title: Localization of the c-abl1 oncogene adjacent to a translocation break point in chronic myelocytic leukemia publication-title: Nature – volume: 132 start-page: 1497 year: 1960 ident: b0005 article-title: A minute chromosome in human granulocytic leukemia publication-title: Science – volume: 97 start-page: 99 year: 1997 end-page: 106 ident: b0035 article-title: Which compartments are involved in Philadelphia-chromosome positive chronic myeloid leukemia? An answer at the single cell level by combining May-Grünwald-Giemsa staining and fluorescence in situ hybridization techniques publication-title: Br. J. Haematol. – volume: 78 start-page: 71 year: 2005 end-page: 73 ident: b0090 article-title: Every case of essential thrombocythemia should be tested for the Philadelphia chromosome publication-title: Am. J. Hematol. – volume: 50 year: 2022 ident: b0140 article-title: Liver tumor concurrent with chronic myelocytic leukemia and extreme thrombocytosis: a rare case report publication-title: J. Int. Med. Res. – volume: 49 start-page: 127 year: 2014 end-page: 129 ident: b0105 article-title: A case of chronic myeloid leukemia with features of essential thrombocythemia in peripheral blood and bone marrow publication-title: Blood Res – volume: 9 start-page: 8799 year: 2016 end-page: 8802 ident: b0115 article-title: Case report: cases of chronic myeloid leukemia presenting with isolated thrombocytosis: case reports and review of literature publication-title: Int. J. Clin. Exp. Med. – volume: 9 start-page: 2 year: 2019 ident: b0130 article-title: BCR/ABL-1-positive myeloproliferative neoplasm presenting with isolated remarkable thrombocytosis with atypical clinicopathological features: discussion from management point of view publication-title: J. Blood Lym. – volume: 12 start-page: e8498 year: 2020 ident: b0065 article-title: Chronic myeloid leukemia: atypical presentation and diagnostic pitfall in the workup of isolated thrombocytosis publication-title: Cureus – volume: 41 start-page: 595 year: 2000 end-page: 598 ident: b0075 article-title: BCR-ABL positive essential thrombocythemia: a variant of chronic myelogenous leukemia or a distinct clinical entity: a special case report publication-title: Singapore Med. J. – year: 2017 ident: b0020 article-title: WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues – volume: 12 start-page: e8788 year: 2020 ident: b0050 article-title: Clinical features and outcomes of patients with chronic myeloid leukemia presenting with isolated thrombocytosis: a systematic review and a case from our institution publication-title: Cureus – volume: 21 start-page: 4427 year: 2012 ident: b0100 article-title: Chronic myeloid leukemia presenting with isolated thrombocythemia: a case revealing its stem cell biology publication-title: Blood – volume: 8 start-page: e476 year: 2016 ident: b0110 article-title: Chronic myeloid leukemia: a case of extreme thrombocytosis causing syncope and myocardial infarction publication-title: Cureus – volume: 16 start-page: 53 year: 2002 end-page: 59 ident: b0025 article-title: Comparison of chromosome banding analysis, interphase- and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases publication-title: Leukemia – volume: 32 start-page: 177 year: 2008 end-page: 180 ident: b0095 article-title: Isolated thrombocytosis as first sign of chronic myeloid leukemia with e6a2 BCR/ABL fusion transcript, JAK2 negativity and complete response to imatinib publication-title: Leuk. Res. – volume: 26 start-page: 433 year: 1995 end-page: 437 ident: b0045 article-title: Demonstration of the Philadelphia translocation by fluorescence in situ hybridization (FISH) in paraffin sections and identification of aberrant cells by a combined FISH/immunophenotyping approach publication-title: Histopathology – volume: 40 start-page: 456 year: 2018 ident: 10.1016/j.hpr.2025.300785_b0120 article-title: Pediatric chronic myeloid leukemia presenting with extreme thrombocytosis simulating essential thrombocythemia publication-title: J. Pediatr. Hematol. Oncol. doi: 10.1097/MPH.0000000000001154 – volume: 97 start-page: 99 year: 1997 ident: 10.1016/j.hpr.2025.300785_b0035 article-title: Which compartments are involved in Philadelphia-chromosome positive chronic myeloid leukemia? An answer at the single cell level by combining May-Grünwald-Giemsa staining and fluorescence in situ hybridization techniques publication-title: Br. J. Haematol. doi: 10.1046/j.1365-2141.1997.9662656.x – volume: 306 start-page: 239 year: 1983 ident: 10.1016/j.hpr.2025.300785_b0015 article-title: Localization of the c-abl1 oncogene adjacent to a translocation break point in chronic myelocytic leukemia publication-title: Nature doi: 10.1038/306239a0 – volume: 41 start-page: 595 year: 2000 ident: 10.1016/j.hpr.2025.300785_b0075 article-title: BCR-ABL positive essential thrombocythemia: a variant of chronic myelogenous leukemia or a distinct clinical entity: a special case report publication-title: Singapore Med. J. – year: 2020 ident: 10.1016/j.hpr.2025.300785_b0055 – volume: 3 start-page: 891 year: 2019 ident: 10.1016/j.hpr.2025.300785_b0135 article-title: Three chronic myeloid leukemia cases that presented like essential thrombocythemia publication-title: HeaSphere doi: 10.1097/01.HS9.0000566340.36375.a0 – volume: 26 start-page: 433 year: 1995 ident: 10.1016/j.hpr.2025.300785_b0045 article-title: Demonstration of the Philadelphia translocation by fluorescence in situ hybridization (FISH) in paraffin sections and identification of aberrant cells by a combined FISH/immunophenotyping approach publication-title: Histopathology doi: 10.1111/j.1365-2559.1995.tb00250.x – volume: 243 start-page: 290 year: 1973 ident: 10.1016/j.hpr.2025.300785_b0010 article-title: A new consistent chromosome abnormality in chronic myelogenous leukemia identified by quinacrine fluorescence and Giemsa staining publication-title: Nature doi: 10.1038/243290a0 – volume: 12 start-page: e8788 year: 2020 ident: 10.1016/j.hpr.2025.300785_b0050 article-title: Clinical features and outcomes of patients with chronic myeloid leukemia presenting with isolated thrombocytosis: a systematic review and a case from our institution publication-title: Cureus – volume: 8 start-page: e476 year: 2016 ident: 10.1016/j.hpr.2025.300785_b0110 article-title: Chronic myeloid leukemia: a case of extreme thrombocytosis causing syncope and myocardial infarction publication-title: Cureus – volume: 97 start-page: 1236 year: 2022 ident: 10.1016/j.hpr.2025.300785_b0060 article-title: Chronic myeloid leukemia: 2022 update on diagnosis, therapy, and monitoring publication-title: Am. J. Hematol. doi: 10.1002/ajh.26642 – volume: 132 start-page: 1497 year: 1960 ident: 10.1016/j.hpr.2025.300785_b0005 article-title: A minute chromosome in human granulocytic leukemia publication-title: Science – volume: 9 start-page: 8799 year: 2016 ident: 10.1016/j.hpr.2025.300785_b0115 article-title: Case report: cases of chronic myeloid leukemia presenting with isolated thrombocytosis: case reports and review of literature publication-title: Int. J. Clin. Exp. Med. – volume: 116 start-page: 812 year: 2002 ident: 10.1016/j.hpr.2025.300785_b0080 article-title: Typical essential thrombocythaemia does not express bcr-abelson fusion transcript publication-title: Br. J. Haematol. doi: 10.1046/j.0007-1048.2002.03343.x – volume: 32 start-page: 177 year: 2008 ident: 10.1016/j.hpr.2025.300785_b0095 article-title: Isolated thrombocytosis as first sign of chronic myeloid leukemia with e6a2 BCR/ABL fusion transcript, JAK2 negativity and complete response to imatinib publication-title: Leuk. Res. doi: 10.1016/j.leukres.2007.05.022 – volume: 84 start-page: 409 year: 2005 ident: 10.1016/j.hpr.2025.300785_b0085 article-title: Philadelphia chromosome – positive thrombocythemia without features of chronic myeloid leukemia (CML) in peripheral blood publication-title: Ann. Hematol. doi: 10.1007/s00277-004-0993-1 – volume: 21 start-page: 100 year: 2018 ident: 10.1016/j.hpr.2025.300785_b0125 article-title: A rare case of pediatric chronic myelogenous leukemia presenting with severe thrombocytosis without leukocytosis publication-title: Pediatr. Dev. Pathol. doi: 10.1177/1093526617698601 – year: 1990 ident: 10.1016/j.hpr.2025.300785_b0040 – volume: 83 start-page: 504 year: 2004 ident: 10.1016/j.hpr.2025.300785_b0070 article-title: Philadelphia (Ph) chromosome-positive thrombocythemia without features of chronic myeloid leukemia in peripheral blood: natural history and diagnostic differentiation from Ph-negative essential thrombocythemia publication-title: Ann. Hematol. doi: 10.1007/s00277-004-0877-4 – volume: 50 year: 2022 ident: 10.1016/j.hpr.2025.300785_b0140 article-title: Liver tumor concurrent with chronic myelocytic leukemia and extreme thrombocytosis: a rare case report publication-title: J. Int. Med. Res. doi: 10.1177/03000605221123684 – year: 2017 ident: 10.1016/j.hpr.2025.300785_b0020 – volume: 63 start-page: 125 year: 1977 ident: 10.1016/j.hpr.2025.300785_b0030 article-title: Chronic myelocytic leukemia: clonal origin in a stem cell common to granulocyte, erythrocyte, platelet and monocyte/macrophage publication-title: Am. J. Med. doi: 10.1016/0002-9343(77)90124-3 – volume: 21 start-page: 4427 year: 2012 ident: 10.1016/j.hpr.2025.300785_b0100 article-title: Chronic myeloid leukemia presenting with isolated thrombocythemia: a case revealing its stem cell biology publication-title: Blood doi: 10.1182/blood.V120.21.4427.4427 – volume: 78 start-page: 71 year: 2005 ident: 10.1016/j.hpr.2025.300785_b0090 article-title: Every case of essential thrombocythemia should be tested for the Philadelphia chromosome publication-title: Am. J. Hematol. doi: 10.1002/ajh.20257 – volume: 12 start-page: e8498 year: 2020 ident: 10.1016/j.hpr.2025.300785_b0065 article-title: Chronic myeloid leukemia: atypical presentation and diagnostic pitfall in the workup of isolated thrombocytosis publication-title: Cureus – volume: 49 start-page: 127 year: 2014 ident: 10.1016/j.hpr.2025.300785_b0105 article-title: A case of chronic myeloid leukemia with features of essential thrombocythemia in peripheral blood and bone marrow publication-title: Blood Res doi: 10.5045/br.2014.49.2.127 – volume: 16 start-page: 53 year: 2002 ident: 10.1016/j.hpr.2025.300785_b0025 article-title: Comparison of chromosome banding analysis, interphase- and hypermetaphase-FISH, qualitative and quantitative PCR for diagnosis and for follow-up in chronic myeloid leukemia: a study on 350 cases publication-title: Leukemia doi: 10.1038/sj.leu.2402329 – volume: 9 start-page: 2 year: 2019 ident: 10.1016/j.hpr.2025.300785_b0130 article-title: BCR/ABL-1-positive myeloproliferative neoplasm presenting with isolated remarkable thrombocytosis with atypical clinicopathological features: discussion from management point of view publication-title: J. Blood Lym. |
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| Snippet | •Isolated thrombocytosis with BCR::ABL1 is rare.•Most cases are asymptomatic.•BCR::ABL1 gene rearrangement is confined to megakaryocytes.•qPCR is most... Highlights•Isolated thrombocytosis with BCR::ABL1 is rare. •Most cases are asymptomatic. •BCR::ABL1 gene rearrangement is confined to megakaryocytes. •qPCR is... Chronic myeloid leukemia (CML) with isolated thrombocytosis and the absence of other significant morphological and/or clinical features of CML poses a... |
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| SubjectTerms | FISH Isolated thrombocytosis with BCR::ABL1 gene rearrangement Megakaryocytes Pathology qPCR |
| Title | Isolated thrombocytosis with BCR::ABL1 gene rearrangement – a distinct entity or a variant of chronic myelogenous leukemia (CML)? Case report and review of literature |
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