Cases reported "Isochromosomes"

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1/11. Isochromosome (7)(q10) in Shwachman syndrome without MDS/AML and role of chromosome 7 anomalies in myeloproliferative disorders.

    Shwachman syndrome (SS) is an autosomal recessive disorder in which bone marrow dysfunction is observed, with development of myelodysplastic syndromes (MDS) and acute myeloid leukemias (AML) in up to one third of the cases. Inconclusive data are available as to increased chromosome breakage in SS, while chromosome 7 anomalies, and often an isochromosome (7)(q10), are frequent in cases with MDS/AML. We report on the consistent presence of an i(7)(q10) in the bone marrow and blood lymphocytes in one of two sisters affected with SS without any clinical or cytological signs of MDS/AML. Thus, this patient was either a case of constitutional mosaicism for the i(7)(q10), or this had to be acquired in a nondysplastic and non-neoplastic marrow clone. dna polymorphism analysis demonstrated the paternal origin of the i(7q). We postulate that the SS mutation acts as a mutator gene, and causes karyotype instability; abnormal clones would thus arise in the marrow, and chromosome 7 anomalies, i(7q) in particular, will in turn lead to MDS/AML. If this interpretation is correct, it would be also an indication to consider chromosome 7 anomalies in general, out of SS, as primary changes in MDS/AML pathogenesis.
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ranking = 1
keywords = myelodysplastic syndrome, myelodysplastic
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2/11. Transient myelodysplastic syndrome associated with isochromosome 7q abnormality.

    Myelodysplastic syndrome (MDS) in childhood is a rare hematological condition that is often associated with cytogenetic abnormalities, the most common being monosomy 7/del(7q). The clinical course of MDS can vary from stable disease to rapid progression into acute leukemia. Rarely, spontaneous remission of MDS has been observed. The authors report the first case of a transient MDS associated with a clonal marrow cytogenetic abnormality consisting of isochromosome 7q in a previously well child. Without intervention, the bone marrow cytogenetics reverted to normal and there was complete hematologic recovery. This case illustrates the importance of close follow-up in a child presenting with MDS, to detect spontaneous recovery or evolution of the disease.
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ranking = 4
keywords = myelodysplastic syndrome, myelodysplastic
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3/11. Isochromosome of a deleted 20q: a rare but recurrent chromosome abnormality in myelodysplastic syndromes.

    Interstitial deletion of the long arm of chromosome 20, as the sole abnormality, is commonly observed in myeloid malignancies, including myeloproliferative disorder, myelodysplastic syndrome, and acute myeloid leukemia. The breakpoints of the deletion are typically located in the region 20q11.2 approximately q13.3, although smaller deletions within this region have also been reported. We present here 4 patients with myelodysplastic syndrome with an isochromosome of the deleted long arm of chromosome 20: ider(20)(q10)del(20)(q11q13). fluorescence in situ hybridization studies were performed on the bone marrow samples from these patients to prove the identity of this unusual chromosome abnormality.
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ranking = 6
keywords = myelodysplastic syndrome, myelodysplastic
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4/11. A comparison of two contrasting recurrent isochromosomes 20 found in myelodysplastic syndromes suggests that retention of proximal 20q is a significant factor in myeloid malignancies.

    We compare two different isochromosomes of chromosome 20 in myelodysplastic syndromes (MDS): an isochromosome of the short arm of chromosome 20, idic(20)(q11), and an isochromosome of the long arm of a deleted chromosome 20, ider(20)(q10)del(20)(q11.2). The isochromosomes are of contrasting morphology, because opposite arms are duplicated, but they both show loss of the critical region at 20q12, as well as retention and duplication of the centromere and proximal long arm (20q11). We speculate that a region of proximal 20q is preferentially retained during deletions of the critical region in MDS and acute myeloid leukemia.
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ranking = 5
keywords = myelodysplastic syndrome, myelodysplastic
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5/11. Isochromosome 7q in down syndrome.

    Isochromosome 7q is not an uncommon chromosomal abnormality. It has been reported in association with Shwachman-diamond syndrome, wilms tumor, and hepatosplenic T-cell lymphoma. In other hematolymphoid malignancies, it occurs almost invariably as a secondary change. A notable example is its association with t(4;11)(q21;q23) in acute lymphoblastic leukemia. It has rarely been described in myelodysplastic syndrome and acute myeloid leukemia. We report the occurrence of i(7q) as the primary abnormality in a 2-year-old boy with down syndrome and minimally differentiated acute myeloid leukemia.
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ranking = 1
keywords = myelodysplastic syndrome, myelodysplastic
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6/11. Isochromosome 1q in a myelodysplastic syndrome after treatment for acute promyelocytic leukemia.

    A growing body of literature reports therapy-related myelodysplastic syndrome (t-MDS) and acute myeloid leukemia (t-AML) in patients treated successfully for acute promyelocytic leukemia (APL). We report a t-MDS with an isochromosome 1q as a sole abnormality, 47,XY, 1,i(1)(q10), in a 46-year-old man with APL 14 years after he was treated with cytosine arabinosine and daunorubicin. The literature on t-MDS/t-AML after APL therapy and on isochromosome 1q is reviewed.
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ranking = 5
keywords = myelodysplastic syndrome, myelodysplastic
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7/11. Acute myeloid leukaemia with i(12p) shortly after treatment of mediastinal germ cell tumour.

    We report a patient who developed acute myeloid leukaemia (M2) shortly after successful treatment of a mediastinal germ cell tumour. The leukaemia was preceded by a documented myelodysplastic phase. Complex cytogenetic abnormalities were found in bone marrow and peripheral blood cells including i(12p), typical of germ cell malignancy. fluorescence in situ hybridization revealed the presence of i(12p) in myeloblasts, erythroblasts and neutrophils but not in lymphocytes. This case provides further evidence for a common clonal origin of haematological malignancies and mediastinal germ cell tumours.
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ranking = 0.28519756168108
keywords = myelodysplastic
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8/11. An isochromosome of the long arm of chromosome 18 in a patient with myelodysplastic syndrome with myelofibrosis.

    A case of myelodysplastic syndrome (MDS) with myelofibrosis and i(18q) is reported. The patient, a 29-year-old Chinese man, was noted to be anemic over a 10-year period. Recently, his spleen became progressively massive and bone marrow aspirates yielded "dry taps" on several occasions. Hematologic investigation disclosed pancytopenia, numerous nucleated red cells, and slightly increased myeloblasts (8%) in the peripheral blood. bone marrow aspirate and biopsy revealed hypercellular marrow, trilineage dysplasia, and significant reticulin fibrosis, but without collagen formation. bone marrow karyotypic analysis with R-banding showed an isochromosome 18q as a sole abnormality in 20 of 24 metaphases analysed. The patient died of severe anemia and bleeding due to bone marrow failure. We believe that i(18q) and myelofibrosis may be related to his poor prognosis.
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ranking = 5
keywords = myelodysplastic syndrome, myelodysplastic
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9/11. Isochromosome 12p in two cases of acute myeloid leukaemia without evidence of germ cell tumour.

    An isochromosome 12p [i(12p)], typical of germ cell tumours (GCT), has, to date, been observed in 10 cases of acute myeloid leukaemia (AML) or myelodysplastic syndrome, nine of which had concurrent or preceding GCT. We report two i(12p)-positive AML cases without clinical evidence of GCT. One patient with AML-M1 had two i(12p) as the only cytogenetic anomalies. In the other case of AML-M3 with t(15;17)(q22;q11-12) at diagnosis, the i(12p) was clearly a secondary rearrangement since it first appeared at relapse and always accompanied the t(15;17). Our results suggest that i(12p) does not always indicate neoplastic disease of germ cell origin.
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ranking = 1
keywords = myelodysplastic syndrome, myelodysplastic
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10/11. Malignant myeloid transformation with isochromosome 7q in Shwachman-diamond syndrome.

    Shwachman-diamond syndrome is an autosomal recessive disorder characterized by exocrine pancreatic dysfunction, bony metaphyseal dysostosis, various degrees of cytopenia, and a striking tendency to develop myelodysplastic syndrome and acute myeloblastic leukemia. Isochromosome 7 [i(7q)] is a rare non-random cytogenetic abnormality of myeloid cells in hematological malignancy. We report two cases of Shwachman-diamond syndrome in which patients developed myelodysplastic syndrome and i(7q), detected by G-banding karyotype analysis and fluorescence in situ hybridization. Three other children have been previously reported to have myelodysplastic syndrome in association with i(7q); two of them had Shwachman-diamond syndrome. Isochromosome 7q may be a fairly specific marker of myeloid malignant transformation in this syndrome and play a role in its pathogenesis.
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ranking = 3
keywords = myelodysplastic syndrome, myelodysplastic
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