Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome

Koshiyama, Dayane Bohn; Capra, Marcelo; Paskulin, Giorgio Adriano; Rosa, Rafael Fabiano Machado; Oliveira, Ceres Andréia Vieira de; Vanelli, Tito; Fogliatto, Laura; Zen, Paulo Ricardo Gazzola

doi:10.1007/s00277-012-1598-8

Cited by 15 publications

(23 citation statements)

References 23 publications

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“…Rearrangements involving chromosomes 2 (2 cases), 11, 14, and 15 were detected in our patients. The profile of the variant translocations was similar with those of previous reports [ 2 , 10 , 11 ]. In our study, 2 out of 3 patients who had been followed for >12 months attained complete cytogenetic response (CCyR) at 12 months.…”

Section: Discussionsupporting

confidence: 89%

“…In 2%-10% of cases, the Ph translocation is generated by variant rearrangements, involving 9q34, 22q11, and one or several other genomic regions [ 3 ]. In our study, 2.7% of our patients exhibited variant Ph chromosomes, which corresponds to the lower margin of the reported range [ 2 , 5 , 9 ]. Rearrangements involving chromosomes 2 (2 cases), 11, 14, and 15 were detected in our patients.…”

Section: Discussionsupporting

confidence: 47%

“…Chronic myeloid leukemia (CML) is a proliferative disorder of hematopoietic pluripotent stem cells [ 1 ]. It presents with an estimated incidence of 1/100,000 cases per year, which accounts for 15%-20% of all leukemia cases [ 2 ]. CML is genetically characterized by the presence of the reciprocal translocation t(9;22) with the formation of the Philadelphia (Ph) chromosome [ 3 ].…”

Section: Introductionmentioning

confidence: 99%

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The Impact of Variant Philadelphia Chromosome Translocations on the Clinical Course of Chronic Myeloid Leukemia

Eyupoglu¹,

Bozkurt²,

Haznedaroğlu³

et al. 2016

Tjh

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Chronic myeloid leukemia (CML) is genetically characterized by the presence of the reciprocal translocation t(9;22) with the formation of Philadelphia (Ph) chromosome. Sometimes, the Ph translocation is generated by variant rearrangements. The prognostic impact of the variant translocations is still controversial. Among the 180 patients with Ph-positive CML who were treated in Hacettepe University Faculty of Medicine Division of Hematology, variant translocations were detected, and retrospectively clinical and prognostic features were described. Also we performed a comprehensive literature review on the prognosis of such variant cases before and after tyrosine kinase inhibitor era. Five patients (2.7%) had variant Ph chromosomes, involved in the rearrangements were chromosomes 2 (2 cases), 11, 14 and 15. Patients were treated with imatinib or dasatinib. All patients reached a stable major molecular response suggesting a prognosis not worse than standard translocation individuals. Our present data were compatible with the data of previous studies indicating no difference in the prognosis between standard and variant translocations in tyrosine kinase inhibitors era of CML.

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Section: Discussionsupporting

confidence: 89%

Section: Discussionsupporting

confidence: 47%

Section: Introductionmentioning

confidence: 99%

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The Impact of Variant Philadelphia Chromosome Translocations on the Clinical Course of Chronic Myeloid Leukemia

Eyupoglu¹,

Bozkurt²,

Haznedaroğlu³

et al. 2016

Tjh

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“…CP NA No CCyR 13 (Adriana & Al Bahar 2012) [8] 64/M 46,XY,t(9;22;7;1)(q34;q11;q22;p13) CP 2-step No PCyR 14 (Koshiyama et al 2013) [20] 29/M 46,XY,t(6;6;9;22)(q21;p21. …”

mentioning

confidence: 99%

A Novel Four-Way Translocation t(5;9;22;18)(q31;q34;q11.2;q21) in a Patient with Chronic Myelogenous Leukemia

et al. 2015

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Chronic myelogenous leukemia (CML) is characterized by the presence of the Philadelphia chromosome, which is generated by a reciprocal t(9;22) (q34;q11) translocation. Variant Philadelphia chromosomes, found in 5-10% of CML cases, are a result of translocations involving other chromosomes, in addition to 9 and 22. These four-way Philadelphia chromosome translocations are very rare; only about 60 patients with such chromosomes have been described. Here, we report a CML case with a novel four-way variant Philadelphia chromosome. A conventional chromosome analysis of bone marrow cells revealed a 46,XY,t(5;9;22;18)(q31;q34;q11.2;q21) karyotype, which was confirmed by multicolor fluorescence in situ hybridization. The major BCR-ABL1 fusion gene was detected by reverse transcription-nested PCR. The patient was treated with imatinib. Twelve months after treatment, he demonstrated a complete hematologic response and chromosome analysis showed that he had a normal karyotype.Key Words: Chronic myelogenous leukemia, Four-way Philadelphia translocation, Imatinib

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“…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)(9)(10)(11).…”

Section: Introductionmentioning

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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Cytogenetic response to imatinib treatment in Southern Brazilian patients with chronic myelogenous leukemia and variant Philadelphia chromosome

Cited by 15 publications

References 23 publications

The Impact of Variant Philadelphia Chromosome Translocations on the Clinical Course of Chronic Myeloid Leukemia

The Impact of Variant Philadelphia Chromosome Translocations on the Clinical Course of Chronic Myeloid Leukemia

A Novel Four-Way Translocation t(5;9;22;18)(q31;q34;q11.2;q21) in a Patient with Chronic Myelogenous Leukemia

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

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