BCR/ABL positive thrombocythemia: a diagnostic dilemma

Zafar, Lubna; Alam, Feroz; Parvez, Anjum; Behera, Srikant

doi:10.4103/ejim.ejim_21_16

Cited by 3 publications

(3 citation statements)

References 10 publications

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“…The BCR-ABL-positive ET may be considered a third variant of CML, known as CML-megakaryocyte predominant (CML-MP) [6], as described in the Hannover Bone Marrow Classification of MPD [6]. The use of tyrosine kinase inhibitors (TKIs) is justified in the treatment of BCR-ABL-positive ET as TKIs target cells that are BCRABL-positive [25].…”

Section: Discussionmentioning

confidence: 99%

A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia

2019

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Patient: Female, 49Final Diagnosis: Essential thrombocythemia with CMLSymptoms: Decreased appetite • fatigue • weight lossMedication: —Clinical Procedure: —Specialty: HematologyObjective:Unusual clinical courseBackground:Essential thrombocythemia (ET) is one of the BCR-ABL gene fusion negative chronic myeloproliferative disorders (MPDs), which also include polycythemia vera (PV), and myelofibrosis. Few clinical cases have reported the progression of ET to chronic myelogenous leukemia (CML) with the expression of the BCR-ABL gene. This report describes such a case and includes a review of other reported cases of CML co-occurring with BCR-ABL-negative chronic MPDs.Case Report:A 49-year-old woman was diagnosed with ET in 2007. Cytogenetic testing was negative for expression of the JAK2 or BCR-ABL1 genes. Eight years later, in January 2015, she presented with excessive fatigue, poor appetite, unintentional weight loss, a white blood cell (WBC) count of 24,700 per mL, hemoglobin of 9.9 g/dl, and a platelet count of 557,000 per mL, with blasts and basophils in the blood film. Cytogenetic analysis with fluorescent in situ hybridization (FISH) confirmed a 9: 22 chromosomal translocation (Philadelphia chromosome), and quantitative reverse transcription polymerase chain reaction (qRT-PCR) detected the expression of the BCRABL gene, confirming a diagnosis of CML. In February 2015, first-line therapy commenced with nilotinib, which was changed to imatinib after three months. During the following nine months, qRT-PCR confirmed a trend to deep molecular remission (MR5). However, she developed early myelofibrosis, and myelosuppressive therapy was resumed.Conclusions:This rare case highlights the importance of cytogenetic testing in cases of CMPD that transform to CML, not only to confirm the diagnosis but to plan treatment, as Philadelphia chromosome-positive and -negative cases differ in their management.

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Section: Discussionmentioning

confidence: 99%

A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia

2019

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“…The authors had described cases with isolated thrombocytosis in absence of leukocytosis as a distinct disease entity that has female predilection with no splenomegaly and poor prognosis. Of note, these patients were not tested for Ph/BCR-ABL-1 at their initial presentation and managed as ET and were all refractory to therapy or show high tendency of transformation, progression to myelofibrosis and blast crisis after few to several years [11,[13][14][15][16][17].…”

Section: Bcr-abl-positive Thrombocythaemia/etmentioning

confidence: 99%

“…However, JAK2 V617F mutation, JAK exon 12-15 mutation, and CALR exon 9 mutations, were reported as negative. Surprisingly, karyotype analysis showed the Philadelphia chromosome without any additional cytogenetic abnormalities 46,XY,t(9;22)(q34;q11.2) [13]/46,XY [7].…”

Section: Introductionmentioning

confidence: 98%

BCR/ABL-1-Positive Myeloproliferative Neoplasm Presenting with Isolated Remarkable Thrombocytosis with Atypical Clinicopathological Features: Discussion from Management Point of View

Soliman¹,

Abdulla²,

Sabbagh³

et al. 2019

J Blood Lymph

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Chronic Myeloid Leukaemia can rarely present in essential Thrombocythaemia-like picture. Apart from the genetic defining marker (BCR-ABL fusion), these cases lack almost all typical features of CML. Here, we highlight the response of these patients to different therapeutic approaches and to emphasize that although the proliferation is solely limited to the platelets; this group of patients did not show any response except after initiation of Tyrosine kinase inhibitors which highpoints the essentiality of excluding CML by performing BCR/ ABL-1 in all cases with features of myeloproliferative neoplasms in order to avoid delayed management and adverse outcome. Apparently, many hematologists have not been persuaded to always test for BCR/ABL-1 when there are no features suggesting CML. Unlike what was previously reported, upon literature review, we found no significant difference in disease prognosis in this group of patients compared to classic CML, provided TKI was started early in disease course.

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Case report of a patient with chronic myeloid leukemia, BCR::ABL1 positive presented with isolated thrombocytosis and an uncommon JAK2 alteration detected in peripheral blood

et al. 2022

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BCR/ABL positive thrombocythemia: a diagnostic dilemma

Cited by 3 publications

References 10 publications

A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia

A Case of Chronic Myelogenous Leukemia Occurring in a Patient Treated for Essential Thrombocythemia

BCR/ABL-1-Positive Myeloproliferative Neoplasm Presenting with Isolated Remarkable Thrombocytosis with Atypical Clinicopathological Features: Discussion from Management Point of View

Case report of a patient with chronic myeloid leukemia, BCR::ABL1 positive presented with isolated thrombocytosis and an uncommon JAK2 alteration detected in peripheral blood

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