Chronic Myeloid Leukemia: Diagnosis and Treatment

Quintás‐Cardama, Alfonso; Cortes, Jorge

doi:10.4065/81.7.973

Cited by 181 publications

(141 citation statements)

References 178 publications

(148 reference statements)

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“…Sessarego et al (5) and Aliano et al identified that complex variant translocation is present in almost 5-8% of CML patients, by the participation of one extra chromosome or more than one chromosome in addition to chromosome numbers 9 and 22 (5,26,27). In the present study, we also investigated a complex variant case of chorionic myeloid leukemia patient with Ph chromosome 46,XX,t(6;9;22)(p21;q34;q11) in chronic phase.…”

Section: Discussionmentioning

confidence: 99%

A rare case of three-way complex variant translocation in chronic myeloid leukemia t(6;9;22)(p21;q34;q11): A case report

et al. 2017

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Abstract. Philadelphia (Ph)-positive chromosome or Ph translocation has been recognized in 90-95 chronic myeloid leukemia (CML) cases worldwide. However, only 5-8% CML patients show complex variant translocations. In the present study, hematological tests for a 47-year-old female CML patient were performed to determine the hemoglobin, platelets and total leukocyte values. A FISH test was carried out to recognize the BCR/ABL gene fusion, and a cytogenetic analysis was performed. The hematological results showed an increase in WBC (414000/mm 3 ) and a decrease in hemoglobin (8.9 mg/dl), indicating the anemic condition in the CML patient. Furthermore, cytogenetic karyotyping results showed 46,XX,t(6;9;22)(p21;q34;q11) and positive for Ph chromosome. In conclusion, in the present study, we report a rare three-way complex variant translocation in a CML patient. IntroductionThe clonal hematopoietic stem cell is associated with chronic myeloid leukemia (CML), which results due to the balance translocation among the long arms of chromosomes (9;22) (q34;q11) commonly known as Philadelphia (Ph) chromosome (1,2). CML consists of monocytic, megakaryocytic, myeloid, erythroid, B-lymphoid and T-lymphoid linkages (3). The nonfunctional crossbreed (PBCR-ABL) protein produced by the chimeric BCR-ABL gene with tyrosine kinase activity independently leads to myeloid proliferation and leukemic makeover (1,4). The translocation of chromosomes (9;22) (q34;p15) is perceived in almost 90-95% of patients with CML, and only 5-8% CML patients have established variant complex translocation, which is due to the participation of one or more chromosomes other than 9 and 22 chromosome (5-7).BCR-ABL protein tyrosine kinase is inhibited by the imatinib mesylate (IM), a conventional oral therapy for patients suffering from CML, irrespective of phases, with a response rate of 65-90% in CML cases. IM acts by blocking the production and inducing apoptosis of BCR-ABL gene expression in CML cells. It plays a vital role regarding continued survival and better quality of life (8-11).In the present study, we report a rare three-way Ph-positive complex variant translocation 46,XX,t(6;9;22)(p21:q34;q11) in a CML patient. Patient and methodsCase report. We report here a 47-year-old female patient who had established CML in Sundayman Civil Hospital (Quetta) on the 8th August, 2014. She was referred to the hospital because of symptoms including fever, anemia, weight loss, sweating, depression, swelling on the body and high blood pressure. The laboratory characteristics of the patient were WBC (414000/mm 3 ), hemoglobin (8.9 g/dl), platelets (619000/mm 3 ), MCV (56.2 FL), MCH (22.5/pg), lymphocytes (7%), neutrophils (20%), HCT (30.2%), monocytes (0.3%), MCHC (39.9 g/dl), metamyelocytes (33%), blast (2%), myelocytes (10%) and normoblasts (04/100 WBCs). The result of ultrasound report of the CML patient showed mild hepatomegaly and massive splenomegaly. The patient was treated with Glivec (imatinib) 600 mg/day. Approval for the study was obtained from the Ethics...

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Section: Discussionmentioning

confidence: 99%

A rare case of three-way complex variant translocation in chronic myeloid leukemia t(6;9;22)(p21;q34;q11): A case report

et al. 2017

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“…Further somatic mutations have been reported in JAK2V617F-negative MPD patients, including a transmembrane mutation in Mpl (Thrombopoietin receptor) in a small proportion of IMF and ET patients, 3 and more recently, a cluster of four different mutations in exon 12 of JAK2 has been described in JAK2V617F-negative PV and idiopathic erythrocytosis patients. 4,5 This group of mutations, affecting amino-acid residues F537-E543, lies in a highly conserved region proximal to the JH2 domain of JAK2 and results in altered growth factor responses in vitro and a myeloproliferative phenotype in a murine bone marrow transplant model.…”

Section: Figurementioning

confidence: 99%

“…2 The platelet count is typically high or normal, but on occasion severe thrombocytopenia may be seen. 3 Most patients are anemic and on occasion require red blood cell transfusion. The gold standard for diagnosis of CML is detection of the Philadelphia chromosome (t(9;22) (q34.1;q11.21)) and/or the Bcr-Abl1 hybrid gene.…”

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confidence: 99%

Erythroid variant of chronic myelogenous leukemia

et al. 2007

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“…In CML, transcripts are primarily formed by the fusion of exons 13 or 14 of the BCR gene to exon 2 of the ABL1 gene, notated as e13a2 (b2a2) and e14a2 (b3a2) messenger RNA (mRNA) transcripts, respectively; these encode a 210-kDa tyrosine kinase referred to as the "p210" fusion protein [24]. In contrast, the major isoform detected in Ph-positive acute lymphoblastic leukemia (detected in < 1% of patients with CML) results from the fusion of exon 1 of the BCR gene with exon 2 of the ABL1 gene, notated as e1a2, and instead yields a 190-kDa tyrosine kinase referred to as the "p190" fusion protein [24,25]. Of note, most qRT-PCR assays utilize primers designed to detect both e13a2 and e14a2 in a single reaction, whereas separate primers are generally needed for detection of e1a2.…”

Section: Detection Of Ph and Bcr-abl1mentioning

confidence: 99%

Monitoring disease burden in chronic myeloid leukemia: Past, present, and future

Egan

Radich

2016

American J Hematol

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Tyrosine kinase inhibitor (TKI) therapy yields sustained cytogenetic remissions in most patients with chronic‐phase chronic myeloid leukemia (CML). Peripheral blood quantitative reverse transcription polymerase chain reaction (qRT‐PCR) monitoring of the chimeric BCR‐ABL1 mRNA transcript levels is a very sensitive method to measure disease burden in patients with cytogenetic remission. qRT‐PCR allows identification of patients (1) at high risk of progression early (3–6 months) after treatment initiation, (2) with no response to TKI therapy, (3) with undetectable disease who could be eligible for TKI discontinuation trials. Molecular monitoring is a minimally invasive method to optimize treatment and outcomes in CML. Am. J. Hematol. 91:742–746, 2016. © 2016 Wiley Periodicals, Inc.

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Chronic Myeloid Leukemia: Diagnosis and Treatment

Cited by 181 publications

References 178 publications

A rare case of three-way complex variant translocation in chronic myeloid leukemia t(6;9;22)(p21;q34;q11): A case report

A rare case of three-way complex variant translocation in chronic myeloid leukemia t(6;9;22)(p21;q34;q11): A case report

Erythroid variant of chronic myelogenous leukemia

Monitoring disease burden in chronic myeloid leukemia: Past, present, and future

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