Isodicentric (X)(q13): A new characteristic chromosomal anomaly in myeloproliferative syndrome?

Petit, P; Masure, R; Berghe, Herman Van den

doi:10.1016/0165-4608(82)90050-4

Cited by 15 publications

(6 citation statements)

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“…Importantly, as a result of idicX formation, certain tumor suppressor gene as well as ABCB7 on the Xq13-qter would be lost. Interestingly, all the reported cases with idicXq13 including ours were hematopoietic stem cell malignancies, such as MDSs, AMLs, and MPNs, though approximately 40 cases have been reported to date [1][2][3][4][5][6][7]. It is noteworthy that tumor suppressor gene RPL10 encoded at the Xq28, which is located on the Xq13-qter, has been reported down-regulated gene expression levels in some human hepatocellular carcinoma cell lines [26].…”

Section: Discussionmentioning

confidence: 92%

“…An isodicentric (X)(q13) chromosome (idicXq13), which is a rare chromosomal abnormality originated by deletion of long arm from Xq13 (Xq13-qter) [1], is found in elderly female patients with hematological malignant disorders, such as myelodysplastic syndromes (MDSs), acute myeloid leukemias (AMLs), and myeloproliferative neoplasms (MPNs) [1][2][3][4][5][6][7]. Interestingly, most reported cases with idicXq13 are accompanied by increased ringed sideroblasts (RSs) [1,3,[5][6][7], which contain iron granules in the cytoplasm (that accumulate in the mitochondria) giving a ringed appearance around the nucleus of the bone marrow erythroblasts.…”

Section: Introductionmentioning

confidence: 99%

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Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13)

et al. 2011

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An isodicentric (X)(q13) (idicXq13) is a rare, acquired chromosomal abnormality originated by deletion of the long arm from Xq13 (Xq13-qter), and is found in female patients with hematological disorders involving increased ringed sideroblasts (RSs), which are characterized by mitochondrial iron accumulation around the erythroblast nucleus. The cause of increased RSs in idicXq13 patients is not fully understood. Here, we report the case of a 66-year-old female presenting with refractory anemia with ringed sideroblasts (RARS), and idicXq13 on G-banded analysis. We identify the loss of the ABCB7 (ATP-binding cassette subfamily B member-7) gene, which is located on Xq13 and is involved in mitochondrial iron transport to the cytosol, by fluorescent in situ hybridization (FISH) analysis and the decreased expression level of ABCB7 mRNA in the patient's bone marrow cells. Further FISH analyses showed that the ABCB7 gene is lost only on the active X-chromosome, not on the inactive one. We suggest that loss of ABCB7 due to deletion of Xq13-qter at idicXq13 formation may have contributed to the increased RSs in this patient. These findings suggest that loss of the ABCB7 gene may be a pathogenetic factor underlying mitochondrial iron accumulation in RARS patients with idicXq13.

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Section: Discussionmentioning

confidence: 92%

Section: Introductionmentioning

confidence: 99%

Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13)

et al. 2011

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“…Though well documented in constitutional karyotypes, structural anomalies of the X chromosome are rare findings in malignant haemopathies (Mitelman, 1994). Among those, idic(X)(ql3) occurs more frequently and has been reported in 1 7 cases including myelodysplastic syndromes (MDS), myeloprolierative disorders (MPS), and acute myeloid leukaemias (AML) (Dewald et d, 1982(Dewald et d, , 1989Petit et al, 1982;Sessarego et al, 1983;Morgan et al, 1987;Mackinnon et al, 1988;Fmilia et al 1989Chen et d, 1992).…”

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confidence: 99%

Isodicentric (X)(q13) in haematological malignancies: presentation of five new cases, application of fluorescence in situ hybridization (FISH) and review of the literature

et al. 1995

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Idic(X)(q13) represents a rare but recurrent chromosomal abnormality in haematological malignancies. We present five new cases characterized by this particular aberration and review the literature on this subject. The patients were elderly females with a diagnosis of refractory anaemia (1/5), refractory anaemia with ringed sideroblasts (2/5), chronic myelomonocytic leukaemia (1/5), and Philadelphia chromosome-negative chronic myeloid leukaemia (1/5). Three out of the five patients demonstrated an increased proportion of bone marrow ringed sideroblasts. After a follow-up period of 30-57 months all patients but one are alive. Idic(X)(q13) always occurred as the sole chromosomal abnormality, either in one or in two copies. We confirmed the dicentric nature of the aberration by fluorescence in situ hybridization (FISH) on metaphases as well as interphase nuclei using an X-chromosome-specific alpha-satellite probe, and performed chromosome painting to visualize possible additional chromosomal changes involving the X chromosomes. Our findings and the data of 17 previously published cases indicate that idic(X)(q13): (1) may play a significant pathogenetic role in haematological malignancies affecting exclusively females and deriving predominantly from early progenitor cells; (2) is frequently associated with a pathological iron accumulation; (3) indicates a variable prognosis.

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“…Among 68 pub lished cases, including malignant lymphomas, 14 were Xq and 2 were Xp partial deletions. Fifteen cases were isochromosomes (Xp): 4 cases of acute nonlymphocytic leukemia and 1 of refractory anemia were monocentric; 10 cases were isodicentric (Xp): 5 cases of preleukemia [Dewald et al, 1982, Petit et al, 1982Therman et al, 1986;Morgan et al, 1987], 4 of acute nonlymphocytic leukemia [Philip et al, 1978;Mackinnon et al, 1988] and 1 of chronic myelogenous leu kemia (CML) [Werner-Favre et al, 1985].…”

Section: Introductionmentioning

confidence: 99%

Isodicentric X Chromosome in Myeloproliferative Disorders

Temperani

Zucchini²,

Emilia³

et al. 1989

Acta Haematol

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Two further cases of acquired isodicentric (X)(q13) chromosome in patients with myeloproliferative disorders are reported. One patient had a primary myelofibrosis and the other a chronic myelogenous leukemia. DNA replication study demonstrated that both abnormal X chromosomes were late replicating in all cells examined. The inactive condition of idic(X)(q13) seems to be indicative of a selective advantage for a cell carrying this alteration.

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Isodicentric (X)(q13): A new characteristic chromosomal anomaly in myeloproliferative syndrome?

Cited by 15 publications

References 2 publications

Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13)

Loss of ABCB7 gene: pathogenesis of mitochondrial iron accumulation in erythroblasts in refractory anemia with ringed sideroblast with isodicentric (X)(q13)

Isodicentric (X)(q13) in haematological malignancies: presentation of five new cases, application of fluorescence in situ hybridization (FISH) and review of the literature

Isodicentric X Chromosome in Myeloproliferative Disorders

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