Three isodicentric Philadelphia chromosomes in acute phase of chronic myeloid leukemia: A case report

Kovàcs, Gabór; Georgii, A.; Mainzer, K.

doi:10.1016/0165-4608(86)90104-4

Cited by 11 publications

(12 citation statements)

References 10 publications

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“…In the Mitelman database and the recent literature, there have been reports of 11 patients with CML and one patient with acute lymphoblastic leukemia that possess idic(Ph) chromosomes (26)(27)(28)(29)(30)(31). In nearly all cases, these idic(Ph) chromosomes formed by fusion at the satellite region in 22p13 (27)(28)(29). In the present case, two previous cases of CML (30,31) and the single case with acute lymphoblastic leukemia (26), idic(Ph) chromosomes formed by fusion at 22q11.…”

Section: Discussionmentioning

confidence: 65%

“…First reported in 1973 (25), idic(Ph) is a rare cytogenetic aberration in which two identical Ph chromosomes fuse while retaining their centromeres. In the Mitelman database and the recent literature, there have been reports of 11 patients with CML and one patient with acute lymphoblastic leukemia that possess idic(Ph) chromosomes (26)(27)(28)(29)(30)(31). In nearly all cases, these idic(Ph) chromosomes formed by fusion at the satellite region in 22p13 (27)(28)(29).…”

Section: Discussionmentioning

confidence: 99%

“…Often observed at later stages of CML, or in the accelerated phase of the disease, idic(Ph) chromosomes can be associated with resistance to standard chemotherapy and poor prognosis (28)(29)(30). In particular, higher copy numbers of idic(Ph) chromosomes result in amplification of the BCR-ABL gene, which is a key contributor to imatinib resistance (32,33).…”

Section: Discussionmentioning

confidence: 99%

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Co-existence of isodicentric Ph chromosomes and the three-way Ph chromosome variant t(3;9;22)(p21;q34;q11) in a rare case of chronic myeloid leukemia

Lin

Chen

et al. 2018

Oncol Lett

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Abstract. More than 90% of patients with chronic myeloid leukemia (CML) have the chromosomal translocation t(9;22)(q34;q11), while 5-8% of patients have complex variant translocations that have previously been thought not to affect the efficacy of imatinib therapy. The present study reports a patient with CML in B-lymphoid blast crisis who had a rare three-way Philadelphia (Ph) variant t(3;9;22)(p21;q34;q11), in addition to isodicentric Ph chromosomes. The patient was initially treated with imatinib for >2 months with a very poor response. When no T315I or F317L mutations in the ABL proto-oncogene 1 region were detected, the patient received dasatinib treatment (140 mg daily) and achieved a complete hematologic response. Following allo-hematopoietic stem cell transplantation, the patient displayed clinical, hematological and cytogenetic remission, with complete molecular response and complete donor chimerism, and stopped taking dasatinib at the last follow-up. The present data suggest that BCR-ABL gene amplification may be associated with imatinib resistance, which can be overcome with dasatinib. The present analysis suggests an alternative therapy strategy for CML involving isodicentric Ph chromosomes.

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Section: Discussionmentioning

confidence: 65%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Co-existence of isodicentric Ph chromosomes and the three-way Ph chromosome variant t(3;9;22)(p21;q34;q11) in a rare case of chronic myeloid leukemia

Lin

Chen

et al. 2018

Oncol Lett

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“…Since then 13 cases of the ider(22) chromosome were reported in CML. It is formed as a result of fusion of 2 Ph chromosomes at the satellite region of their short arms by either fusion or translocation [Whang-Peng et al, 1973;Kovacs et al, 1986;Pernice et al, 1993;Al-Achkar et al, 2013;Brahmbhatt et al, 2014]. Ider (22) formed by fusion at the long arms (q11) of Ph chromosomes is also rare and has only been reported in 3 CML cases [Szych et al, 2007;Li Ming Chua et al, 2010;Vundinti et al, 2014] and 1 case in acute lymphoblastic leukemia [Yamamoto et al, 2007].…”

Section: Discussionmentioning

confidence: 99%

“…The formation of ider(22) may play a pivotal role in the development of resistance to IM therapy in CML patients, thereby accelerating the rate of disease progression [Kovacs et al, 1986]. However, data regarding the effect of ider(22) on genomic instability and increased resistance to IM therapy are not conclusive.…”

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confidence: 92%

Isodicentric Philadelphia Chromosome: A Rare Chromosomal Aberration in Imatinib-Resistant Chronic Myelogenous Leukemia Patients - Case Report with Review of the Literature

Ramachandran

Narayanan²,

Nair³

et al. 2016

Cytogenet Genome Res

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The BCR-ABL1 fusion gene derived from the Philadelphia chromosome, resulting from a classical translocation event t(9;22)(q34.13;q11.23), is responsible for the pathogenesis of chronic myeloid leukemia (CML) in more than 90% of the patients. The isoderivative chromosome 22, ider(22), and relative amplification or duplication of the BCR-ABL1 gene have been considered as one of the major reasons associated with the resistance to chemotherapy with imatinib mesylate, but the data remain unclear. GTG-banding together with FISH were performed to identify the presence of the ider(22) chromosome. Reverse transcription-polymerase chain reaction (RT-PCR) for the detection of BCR-ABL1 fusion transcripts and BCR-ABL1 kinase domain mutation analysis were carried out in this study. Conventional and molecular cytogenetic analysis on metaphase chromosomes confirmed the presence of ider(22) chromosomes in both patients. Molecular characterization revealed the presence of a 210-kDa BCR-ABL1 type b3a2 and lack of mutations at the kinase domain region on the fusion product in both patients. The occurrence of the ider(22) chromosome could be considered as an important marker correlated with the aggressive progression of CML as well as the emergence of drug-resistant cell clones.

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Isodicentric Philadelphia chromosome: an uncommon chromosomal abnormality in the chronic phase of chronic myeloid leukemia (CML)

Loo

Bansal

Cherukuri

et al. 2015

Clinical Case Reports

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Three isodicentric Philadelphia chromosomes in acute phase of chronic myeloid leukemia: A case report

Cited by 11 publications

References 10 publications

Co-existence of isodicentric Ph chromosomes and the three-way Ph chromosome variant t(3;9;22)(p21;q34;q11) in a rare case of chronic myeloid leukemia

Co-existence of isodicentric Ph chromosomes and the three-way Ph chromosome variant t(3;9;22)(p21;q34;q11) in a rare case of chronic myeloid leukemia

Isodicentric Philadelphia Chromosome: A Rare Chromosomal Aberration in Imatinib-Resistant Chronic Myelogenous Leukemia Patients - Case Report with Review of the Literature

Isodicentric Philadelphia chromosome: an uncommon chromosomal abnormality in the chronic phase of chronic myeloid leukemia (CML)

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