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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| Vydané 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 | 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. •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. 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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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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