A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1)

Todoric-Zivanovic, Biljana; Marisavljević, Dragomir; Surace, Cecilia; Čemerikić, Vesna; Marković, Olivera; Krtolica, Koviljka; Tatomirovic, Zeljka; Cikota, Bojana; Magić, Zvonko; Rocchi, Mariano

doi:10.1016/j.cancergencyto.2005.11.008

Cited by 12 publications

(6 citation statements)

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“…The explanation for these cases are that there is a double recombination event involving chromosomes 9 and 22, and in some cases one or more other chromosomes (Bartram 1985; Fitzgerald and Morris 1991; Heim et al 1985; La Starza et al 2002; Nishigaki et al 1992; Seong et al 1999; Sessarego et al 2000; Todoric-Zivanovic et al 2006). Usually, patients with Ph-negative (Ph−)/ BCR-ABL1 -positive ( BCR-ABL1 +) CML are clinically not distinguishable from patients with Ph+ CML (Baccarani et al 2013; Martiat et al 1991; Seong et al 1999).…”

Section: Introductionmentioning

confidence: 99%

Nilotinib first-line therapy in patients with Philadelphia chromosome-negative/BCR-ABL-positive chronic myeloid leukemia in chronic phase: ENEST1st sub-analysis

Hochhaus

Mahon²,

Coutre

et al. 2017

J Cancer Res Clin Oncol

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PurposeThe ENEST1st sub-analysis presents data based on Philadelphia chromosome (Ph) status, i.e., Ph+ and Ph−/BCR-ABL1 + chronic myeloid leukemia.MethodsPatients received nilotinib 300 mg twice daily, up to 24 months.ResultsAt screening, 983 patients were identified as Ph+ and 30 patients as Ph−/BCR-ABL + based on cytogenetic and RT-PCR assessment; 76 patients had unknown karyotype (excluded from this sub-analysis). In the Ph−/BCR-ABL1 + subgroup, no additional chromosomal aberrations were reported. In the Ph+ subgroup, 952 patients had safety and molecular assessments. In the Ph−/BCR-ABL1 + subgroup, 30 patients had safety assessments and 28 were followed up for molecular assessments. At 18 months, the molecular response (MR) 4 rate [MR4; BCR-ABL1 ≤0.01% on International Scale (IS)] was similar in the Ph−/BCR-ABL1+ (39.3%) and Ph+ subgroups (38.1%). By 24 months, the cumulative rates of major molecular response (BCR-ABL1IS ≤0.1%;), MR4, and MR4.5 (BCR-ABL1IS ≤0.0032%) were 85.7, 60.7, and 50.0%, respectively, in the Ph−/BCR-ABL1 + subgroup, and 80.3, 54.7, and 38.3%, respectively, in the Ph+ subgroup. In both Ph−/BCR-ABL1 + and Ph+ subgroups, rash (20 and 22%), pruritus (16.7 and 16.7%), nasopharyngitis (13.3 and 10.4%), fatigue (10 and 14.2%), headache (10 and 15.8%), and nausea (6.7 vs 11.4%) were frequent non-hematologic adverse events, whereas hypophosphatemia (23.3 and 6.8%), anemia (10 and 6.5%), and thrombocytopenia (3.3 and 10.2%) were the common hematologic/biochemical laboratory events.ConclusionBased on similar molecular response and safety results in both subgroups, we conclude that Ph−/BCR-ABL1 + patients benefit from nilotinib in the same way as Ph+ patients.

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Section: Introductionmentioning

confidence: 99%

Nilotinib first-line therapy in patients with Philadelphia chromosome-negative/BCR-ABL-positive chronic myeloid leukemia in chronic phase: ENEST1st sub-analysis

Hochhaus

Mahon²,

Coutre

et al. 2017

J Cancer Res Clin Oncol

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“…In view of the few studies published with a precise map of the insertions [ 7 - 10 ], we aimed to construct an accurate map of the insertions in the cell line CML-T1 [ 11 ] and 9 patients with Ph negative BCR/ABL1 positive CML using a range of FISH probes obtained from BAC clones. The fusion gene was identified at 9q34 (3 patients), 22q11 (5 patients and CML-T1) and 22p11 (3 patients), resulting in relocation of sequences well in excess of either 3' ABL or 5' BCR by means of a direct insertion (6 patients and CML-T1) or a sequence of events (3 patients).…”

Section: Introductionmentioning

confidence: 99%

FISH mapping of Philadelphia negative BCR/ABL1 positive CML

et al. 2008

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Background: Chronic myeloid leukaemia (CML) is a haematopoietic stem cell disorder, almost always characterized by the presence of the Philadelphia chromosome (Ph), usually due to t(9;22)(q34;q11) or its variants. The Ph results in the formation of the BCR/ABL1 fusion gene, which is a constitutively activated tyrosine kinase. Around 1% of CML patients appear to have a Ph negative karyotype but carry a cryptic BCR/ABL1 fusion that can be located by fluorescence in situ hybridisation (FISH) at chromosome 22q11, 9q34 or a third chromosome. Here we present FISH mapping data of BCR and ABL1 flanking regions and associated chromosomal rearrangements in 9 Ph negative BCR/ABL1 positive CML patients plus the cell line CML-T1.

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“…In about 5-10% of CML cases, a complex translocation leaded to the formation of a variant Ph chromosome [12,13] . [14] . So 4q31 is first report up to now.…”

Section: Discussionmentioning

confidence: 99%

Laboratory characteristics of patients with variant Phiadelphia chromosome positive leukemia

Song

Guo

Wang

et al. 2020

Preprint

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Background Variant Philadelphia chromosomes are characterized by the involvement of another chromosome in addition to chromosome 9 or 22. To detect the difference between variant Philadelphia chromosomes positive leukemia and classic Philadelphia chromosomes positive leukemia. And to help diagnose and treat variant Philadelphia chromosomes positive leukemia. Methods In this study, Peripheral blood and bone morrow cell morphology test was used to analysis bone morphology of variant Ph positive patients. Karyotype analysis was used to find out variant Ph chromosomes. Flow cytometry analysis was used for immunology analysis. BCR/ABL was detected by PCR to monitor change of molecular genetics in variant Ph positive patients. Results From 48 patients with Ph positive leukemia, we found out 3 variant Ph positive leukemia. Compared with the classic Ph positive leukemia patients, the hemogram in the variant Ph positive leukemia patients was more variant for presenting hypomyelodysplasia or hyperactive. Compared with classic chronic myeloid leukemia which neutrophilic myelocyte, metamyelocyte and stab granulocyte is increasing in, both the morphological testing of bone marrow cells smear and flow cytometry analysis were indicated that proportion of myeloblast and promyelocyte increased in variant Philadelphia chromosomes leukemia. What’s more, the variant Ph with breakpoint 4q31 was the first report in leukemia patient. Same as the classic Ph positive leukemia patient, formal and effective treatment could prolong the survival of patients with variant Ph positive leukemia. Conclusions Compared with classic Ph positive leukemia, the hemogram was more variant in variant Ph. The myeloid morphology in the patients with variant Ph was more immature than that of in the patients with classic Ph. Reporting new cases of complex variant translocations, which can refer to new breakpoints that can eventually be recurrent and important for the understanding of this leukemia. Formal and effective treatment are necessary for variant Ph positve leukemia.

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A Ph-negative chronic myeloid leukemia with a complex BCR/ABL rearrangement and a t(6;9)(p21;q34.1)

Cited by 12 publications

References 14 publications

Nilotinib first-line therapy in patients with Philadelphia chromosome-negative/BCR-ABL-positive chronic myeloid leukemia in chronic phase: ENEST1st sub-analysis

Nilotinib first-line therapy in patients with Philadelphia chromosome-negative/BCR-ABL-positive chronic myeloid leukemia in chronic phase: ENEST1st sub-analysis

FISH mapping of Philadelphia negative BCR/ABL1 positive CML

Laboratory characteristics of patients with variant Phiadelphia chromosome positive leukemia

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