1/61. monosomy X as the sole cytogenetic abnormality in acute lymphoblastic leukemia: a report of two new patients.monosomy X as the sole acquired cytogenetic abnormality is usually found in myeloid hematological malignancies, especially those with myelodysplastic features. Only three cases of acute lymphoblastic leukemia (ALL) with this abnormality have been previously reported. We add two cases to this series and comment on the likelihood of a tumor suppressor gene being located on the x chromosome.- - - - - - - - - - ranking = 1keywords = myelodysplastic (Clic here for more details about this article) |
2/61. Myelodysplastic syndrome with monosomy 7 after immunosuppressive therapy in Behcet's disease.Only few cases of Behcet's and hematological malignancies have been reported until now. We recently observed a 39-year-old female patient with Behcet's disease developing a myelodysplastic syndrome (MDS) FAB subtype refractory anemia with excess of blasts in transformation [RAEB-t] with a monosomy 7 after being treated with cyclosporin A and chlorambucil for several years. This case is reported and the occurrence of hematological malignancies and Behcet's disease is reviewed.- - - - - - - - - - ranking = 3.5486730051791keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
3/61. Myelodysplastic syndrome with monosomy 5 and/or 7 following therapy with 2-chloro-2'-deoxyadenosine.A few cases of secondary neoplasms occurring after treatment with 2-chloro-2'-deoxyadenosine (2CdA) have been reported, mostly in patients previously exposed to other anti-cancer drugs including alkylating agents (AA). Here we report on the occurrence of a myelodysplastic syndrome (MDS) with monosomy 5 and/or 7 in two patients after 2CdA treatment, without or prior to other toxic exposure. In light of a literature review and given the involvement of chromosomes frequently abnormal in secondary leukaemias, we suggest that 2CdA may induce therapy-related MDS (t-MDS).- - - - - - - - - - ranking = 3.5486730051791keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
4/61. Transient monosomy 7: a case series in children and review of the literature.BACKGROUND: monosomy 7 and deletions of the long arm of chromosome 7 [del (7q)] are recurrent, nonrandom chromosomal abnormalities associated with both de novo and therapy-related myelodysplastic syndromes (MDS). The overall prognosis for children and adults with these chromosomal abnormalities is poor. In the current report, the authors present five children with MDS associated with monosomy 7/del(7q) who achieved spontaneous hematologic disease remission as well as a review of the literature. methods: Five children with either de novo or treatment-related MDS who achieved spontaneous hematologic disease remission are presented. Relevant clinical, cytogenetic, and fluorescent in situ hybridization data are included. RESULTS: All patients were boys. Three had de novo MDS whereas two others previously had received chemotherapy for another malignancy. Four patients achieved spontaneous and durable hematologic disease remission that was associated with cytogenetic disease remission in all three patients tested. The fifth patient developed a disease recurrence and died with evidence of clonal evolution after a long interval of hematologic and cytogenetic remission. CONCLUSIONS: A subset of children who develop MDS associated with monosomy 7 or del(7q) achieve spontaneous hematologic and cytogenetic improvement. Although this appears to be uncommon, further data are needed to determine the percentage of patients who improve without therapy and to define clinical characteristics that may predict this clinical outcome. These findings suggest that monosomy 7/del(7q) is insufficient to produce full leukemic transformation.- - - - - - - - - - ranking = 3.5486730051791keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
5/61. Loss of maternal allele in a child with myelodysplastic syndrome and monosomy 7.monosomy 7 or partial deletion of the long arm of chromosome 7 is frequently described in children with myelodysplastic syndrome and acute myeloblastic leukemia. Parental origin of chromosome 7 in children with sporadic monosomy 7 has been examined very rarely. To investigate if monosomy 7 shows parent-of-origin, we have studied a female child with monosomy 7 and de novo myelodysplastic syndrome by a series of polymorphic polymerase chain reaction markers. We found loss of maternal allele and discussed the results with the previous reports.- - - - - - - - - - ranking = 21.292038031075keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
6/61. Analysis of myelodysplastic syndrome clones arising after multiple myeloma: a case study by correlative interphase cytogenetic analysis.BACKGROUND: A patient with multiple myeloma developed myelodysplastic syndrome (MDS). Chromosomal analysis performed after the development of MDS revealed monosomy of chromosome 9 in all the meta-phases. We wished to identify the extent of the clone with the chromosomal abnormality originating from MDS clone. methods: A correlative interphase study by fluorescence in situ hybridization (FISH) was performed and we determined whether each lineage of cells obtained the molecular mark. The chromosome 9 classic alpha satellite region dna was used as a probe for the FISH analysis in smear specimens stained with Wright-Giemsa stain. RESULTS: erythroblasts, granulocytes and myelocytes had only one signal, whereas myeloma cells showed two to four signals. CONCLUSION: This study visualized the spectrum of MDS clone. The results suggest that the origin of MDS is different from that of multiple myeloma, at least in this case.- - - - - - - - - - ranking = 17.743365025895keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
7/61. Discordant detection of monosomy 7 by GTG-banding and FISH in a patient with Shwachman-diamond syndrome without evidence of myelodysplastic syndrome or acute myelogenous leukemia.The myelodysplastic syndromes (MDS) are a group of hematologic disorders commonly affecting elderly persons and often leading to acute myelogenous leukemia (AML). Although rare in children, when MDS does occur, it is frequently part of a congenital disorder such as Shwachman-diamond syndrome (SDS). monosomy 7 and/or deletion of part or all of 7q are poor prognostic signs in MDS and AML, although the pathophysiologic relationship between this finding and MDS or AML is unclear. Shwachman-diamond syndrome is an inherited illness characterized by exocrine pancreatic insufficiency and by congenital neutropenia. patients with SDS are at increased risk of developing myelodysplastic syndrome (MDS) and acute myelogenous leukemia (AML). Because monosomy 7 is a poor prognostic sign in MDS and AML, establishing its presence is important. However, different methods of detection of monosomy 7 may lead to different results in some patients. We present the case of a 10-year-old girl known to have SDS, who had a bone marrow aspiration and biopsy done to rule out MDS and AML. By light microscopy, the patient's bone marrow was unremarkable. GTG-banding showed the following karyotype: 45,XX,-C[3]/47,XX, C[1]/46,XX[45]. fluorescence in situ hybridization (FISH) was performed with a chromosome 7-specific alpha-satellite probe (D7Z1). Almost all (373 of 376) cells exhibited only one chromosome 7 signal. A second marrow aspiration done 6 months later showed an essentially normal karyotype by GTG-banding. fluorescence in situ hybridization with the same chromosome 7 probe showed 230 of 250 cells to be monosomic for chromosome 7. A whole chromosome 7 painting probe demonstrated disomy for chromosome 7 in 90 of 90 cells; however, subtle heteromorphism in the centromeric regions of the 2 copies of chromosome 7 was noted in some cells. This case demonstrates that FISH and GTG-banding can give discordant results, that the two should be viewed as complementary technologies, and that both have a place in a full karyotypic analysis. Furthermore, this case demonstrates for the first time that heteromorphism and/or subtle structural abnormalities of chromosome 7, previously associated with MDS and AML, can exist without clinical or morphologic signs of these illnesses. It will be of interest to further study the relationship, if any, between SDS and various structural abnormalities of chromosome 7 in MDS and AML, and to elucidate the molecular mechanisms of pathogenesis, physiology, and treatment of these disorders.- - - - - - - - - - ranking = 21.292038031075keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
8/61. Myelodysplastic syndrome associated with monosomy 7 in a child with bloom syndrome.bloom syndrome is a genomic instability syndrome associated with predisposition to development of various types of malignancy. In this report, we described a 7-year-old boy with bloom syndrome (BS) and myelodysplastic syndrome (MDS) associated with monosomy 7 and loss of the y chromosome. To our knowledge, this was the first case with BS showing monosomy 7 and MDS during the early childhood period.- - - - - - - - - - ranking = 3.5486730051791keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
9/61. Familial acute myeloid leukemia with monosomy 7: late onset and involvement of a multipotential progenitor cell.Familial acute myeloid leukemia (AML) with monosomy 7 is a rare syndrome with fewer than 10 families reported. The salient features included a young median age (8 years) at presentation, equal sex preference, and occurrence of cytopenias and myelodysplasia in nonleukemic family members. Owing to its rarity and the fact that many cases were reported quite some time ago, detailed clinicopathologic features of familial monosomy 7 were not available. We describe a family with three siblings affected by AML in whom monosomy 7 was demonstrated. This family showed several unique features, including the late onset of AML (at 34 and 37 years of age in two siblings), and the presence of an antecedent myelodysplastic phase before leukemia development. With fluorescence in situ hybridization, the monosomy 7 clone was shown to be capable of partial maturation, which was consistent with the biologic behavior of myelodysplasia. These observations suggest that familial leukemia with monosomy 7 is probably a multistep leukemogenic process in which monosomy 7 might be but one of the critical steps. Finally, the prognosis in these cases was poor, suggesting that more aggressive therapy may be needed to improve treatment outcome.- - - - - - - - - - ranking = 1keywords = myelodysplastic (Clic here for more details about this article) |
10/61. monosomy 16 as the sole abnormality in myeloid malignancies.The majority of acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) patients reported with chromosome 16 abnormalities had the inv(16)(p13q22) or t(16;16)(p13;q22) rearrangements, which were associated with a favorable prognosis. In contrast, del(16)(q22) was reported less commonly but was associated with a less favorable prognosis. We describe an 80-year-old woman who presented with MDS (refractory anemia). Chromosome analysis from bone marrow aspirate cultures showed monosomy 16 as the sole cytogenetic abnormality. Comparison of this patient with previously reported cases of monosomy 16 showed that this uncommon abnormality was associated with myeloid disorders. monosomy 16 patients, similar to del(16)(q22) patients, tended to be elderly, presented with MDS or AML, and had a poor prognosis. The similarity in clinical course for del(16)(q22) and monosomy 16 patients suggests that the phenotype in both groups resulted from loss of important gene(s) on 16q, as distinct from the fusion gene product identified in the inv(16) and t(16;16) rearrangements.- - - - - - - - - - ranking = 3.5486730051791keywords = myelodysplastic syndrome, myelodysplastic (Clic here for more details about this article) |
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