Chronic Myeloid Leukemia with e19a2<i>BCR-ABL1</i>Transcripts and Marked Thrombocytosis: The Role of Molecular Monitoring

Langabeer, Stephen E.; McCarron, Sarah L.; Kelly, Johanna; Krawczyk, Janusz; McPherson, Suzanne; Perera, Kanthi; Murphy, Philip

doi:10.1155/2012/458716

Cited by 9 publications

(7 citation statements)

References 19 publications

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“…These differences in frequencies of BCR-ABL1 transcript variants could be caused by ethnic and/or genetic influences which require further studies to identify [5]. The e19a2 variant in CML patients had been found to be associated with thrombocytosis, higher Sokal scores at diagnosis and better response to 2G-TKIs than to Imatinib [23][24][25]. Similarly, expression of the e1a2 transcript in CML was associated with poor response to TKI therapy and poor outcomes in CML patients [9,25].…”

Section: Discussionmentioning

confidence: 99%

Distribution of BCR–ABL1 Transcript Variants in Nigerians with Chronic Myeloid Leukemia

Owojuyigbe

Durosinmi

Bolarinwa

et al. 2020

Indian J Hematol Blood Transfus

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The distribution of BCR-ABL1 transcript variants e13a2 (''b2a2'') and e14a2 (''b3a2'') in Nigerians with chronic myeloid leukemia (CML) had not been previously studied. In addition, there is paucity of data on the impact of BCR-ABL1 transcript variants on clinical presentation and survival in CML patients in Nigeria. The BCR-ABL1 transcript variants were analyzed in 230 Imatinib-treated CML patients at diagnosis. Patients with incomplete data (n = 28), e19a2 (n = 3) and e1a2 (n = 1) were excluded from analysis of transcript variant on disease presentation and survival leaving only 198. The frequencies of BCR-ABL1 transcript variants were 30 (13.0%), 114 (49.6%), 82 (35.7%), three (1.3%) and one (0.4%) for e13a2, e14a2, coexpression of e13a2/e14a2, e19a2 and e1a2, respectively. A significantly higher platelet count was found in patients with e13a2 variant (531.1 ± 563.4 9 10 9 /L) than in those expressing e14a2 (488.2 ± 560.3 9 10 9 /L) or e13a2/e14a2 (320.7 ± 215.8 9 10 9 /L); p = 0.03. No significant differences were found between the variants with regards to gender, age, phase of disease at diagnosis, total white blood cell count, neutrophil percentage, hematocrit, splenomegaly or hepatomegaly. Overall survival was higher but not statistically significant (p = 0.4) in patients with e14a2 variant (134 months) than in e13a2 (119 months) and coexpression of e13a2/e14a2 (115 months). Nigerian CML patients have the highest incidence of co-expression of e13a2 and e14a2. Distinct disease characteristics which contrast with findings from the Western countries were also identified in Nigerians which may be due to genetic factors.

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Section: Discussionmentioning

confidence: 99%

Distribution of BCR–ABL1 Transcript Variants in Nigerians with Chronic Myeloid Leukemia

Owojuyigbe

Durosinmi

Bolarinwa

et al. 2020

Indian J Hematol Blood Transfus

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“…On RT-PCR, that patient was found to have a variant e19a2 BCR-ABL1 transcript. Treatment response could not be assessed well due to multiple treatment interruptions 2. Yamagata reported a case of CML with variant BCR-ABL transcript c3-e2.…”

Section: Discussionmentioning

confidence: 99%

Chronic myeloid leukaemia with extreme thrombocytosis

et al. 2015

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We report two cases of chronic myeloid leukaemia (CML) with extreme thrombocytosis. The first patient was a 65-year-old man who presented with prolonged history of upper abdominal discomfort, anorexia and two episodes of recent gum bleeds without fever or other bleeding manifestations. He was a chronic smoker with no other comorbidities. Examination revealed moderate hepatosplenomegaly. On investigation, he was found to have extreme thrombocytosis (3 500 000/mm3) and leucocytosis with moderate anaemia. In view of the leucocytosis, he was investigated for CML and found to be positive for BCR-ABL by reverse transcription PCR (RT-PCR). He received imatinib 400 mg/day and achieved complete haematological response at the end of 3 months. The second patient was a 7-year-old boy who presented with fever, cough and cold of 2-week duration. Examination revealed mild hepatomegaly with palpable spleen tip. Haemogram and peripheral smear revealed moderate leucocytosis with extreme thrombocytosis (2 800 000/mm3). On evaluation, he was found to be BCR-ABL positive and responded well to imatinib treatment. In both these cases, massive thrombocytosis was an unusual presentation of a well-known entity, namely, CML. This degree of thrombocytosis is usually seen only in essential thrombocytosis.

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“…Thrombocytosis above 2,000,000/µL is extremely rare in CML unless the patient is splenectomized. Rare case reports with classic CML presented with extreme thrombocytosis, [6][7][8][9] and those cases are often associated with the e19a2 BCR-ABL1 transcript type [7]. These exceptional cases have otherwise typical clinical and pathological features of CML and although platelets count exceeds 1000 × 10 9 /L, hemorrhagic or thromboembolic complications is far less common than ET patients who are associated with similar degree of thrombocytosis.…”

Section: Typical CML With Extreme Thrombocytosismentioning

confidence: 97%

“…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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Chronic Myeloid Leukemia with e19a2BCR-ABL1Transcripts and Marked Thrombocytosis: The Role of Molecular Monitoring

Cited by 9 publications

References 19 publications

Distribution of BCR–ABL1 Transcript Variants in Nigerians with Chronic Myeloid Leukemia

Distribution of BCR–ABL1 Transcript Variants in Nigerians with Chronic Myeloid Leukemia

Chronic myeloid leukaemia with extreme thrombocytosis

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

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