Myelodysplastic syndromes

Fenaux, Pierre; Gardin, Claude

doi:10.1201/b14440-41

Cited by 22 publications

(32 citation statements)

References 28 publications

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“…111 It is a common finding, for example, not only in PV, [53][54][55] but also in PMF [26][27][28]112 and may occur in ET, 114,115 chronic neutrophilic leukaemia, 62 myelodysplastic syndromes 113,114 and acute myeloid leukaemia, 115 although rarely in lymphoproliferative malignancies. 116,117 It is mostly found as an isolated event, although in approximately a quarter of cases it can occur with additional cytogenetic abnormalities including deletion 5q, monosomy 7, trisomy 8, deletions and translocations of 13q and trisomy 21.…”

Section: Chromosome 20mentioning

confidence: 99%

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Reilly

2008

Leukemia

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The frequency of cytogenetic abnormalities in the Philadelphianegative myeloproliferative neoplasms (MPNs) varies from approximately 30% in primary myelofibrosis (PMF) to less than 5% in essential thrombocytosis (ET). The spectrum of aberrations is heterogeneous, ranging from gains and losses of genetic material to structural changes including unbalanced translocations. However, no specific abnormality has been identified to date. Nevertheless, such investigations can provide evidence of clonality and, as a result, cytogenetic findings have been included in the WHO diagnostic criteria for this group of diseases. The aim of the current review is to discuss the pathogenetic insight and prognostic information that standard, as well as molecular cytogenetic analysis has provided. A brief overview is given of the cytogenetic findings in the individual diseases, followed by a more detailed discussion of the possible pathogenetic consequences of specific abnormalities and their impact on prognosis.

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Section: Chromosome 20mentioning

confidence: 99%

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Reilly

2008

Leukemia

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“…In patients with myelodysplastic syndromes (MDSs), the chromosome abnormality not only confirms the clonality of the disease, [1][2][3] but also predicts the likelihood of progression into acute myeloid leukemia (AML) and overall survival (OS). [4][5][6][7][8][9][10][11][12][13][14][15][16] In 1997, the international prognostic scoring system (IPSS) has further emphasized that karyotype is one of the most important prognostic indicators in MDS and can be used along with bone marrow blast cell percentage and number/degree of peripheral cytopenia to subdivide patients into four subgroups having distinct clinical outcomes.…”

Section: Introductionmentioning

confidence: 99%

Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients

et al. 2003

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“…They are seen in relatively young patients, are diagnostically specific, are present as the only chromosome rearrangement at the time of diagnosis, and occur in all metaphases [11][12][13][14]22]. Reciprocal translocation between chromosome 3 and chromosome 14, involving 3p21.1 and 14q24.1 detected in the three healthy members of the patient's family, does not seem to be active in leukemogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…Those abnormalities generally consist of partial or complete chromosome deletions (del5q, À7, +8, ÀY, del20q), whereas balanced or unbalanced translocations are rarely found in MDS [11][12][13][14][15][16][17].…”

Section: Discussionmentioning

confidence: 99%

A case of myelodysplastic syndrome with erythroid hypoplasia associated with a familial translocation t(3;14)(p21.1;q24.1)

Dınçol¹,

Öztürk²,

Palandüz³

et al. 2006

Am. J. Hematol.

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Myelodysplastic syndrome (MDS) with erythroid hypoplasia, a rare form of MDS, has not yet been clearly defined. We report here a 20-year-old woman with severe transfusion-dependent anemia and reticulocytopenia. White blood cells and platelet counts were normal. Bone marrow examination showed a low percentage of erythroid precursors (6%) and a marked dyserythropoiesis and dysmegakaryopoiesis. A diagnosis of MDS (refractory anemia according to the FAB classification) with erythroid hypoplasia was made. Cytogenetic analysis of the bone marrow and peripheral blood revealed a 46,XX,t(3;14)(p21.1;q24.1) translocation, which was confirmed by fluorescence in situ hybridization analysis. This translocation was detected in the apparently healthy younger brother, father, and aunt (father's sister) of the patient. Clonality of T cells in the patient was not confirmed by the polymerase chain reaction and heteroduplex temperature-gradient gel electrophoresis. IgM serology for B19 parvovirus was negative. Other conditions known to be associated with erythroid hypoplasia, such as thymoma, were not present. The patient failed to respond to immunosuppressive therapy (antithymocyte globulin and cyclosporin A). Administration of recombinant human erythropoietin improved her anemia. To our knowledge, this balanced translocation, namely t(3;14)(p21.1;q24.1), which is present both in the patient with MDS with erythroid hypoplasia and in the healthy members of the family, has not been defined previously. Am. J. Hematol. 81:883-887, 2006. V V C 2006 Wiley-Liss, Inc.

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Myelodysplastic syndromes

Cited by 22 publications

References 28 publications

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Pathogenetic insight and prognostic information from standard and molecular cytogenetic studies in the BCR-ABL-negative myeloproliferative neoplasms (MPNs)

Is FISH a relevant prognostic tool in myelodysplastic syndromes with a normal chromosome pattern on conventional cytogenetics? A study on 57 patients

A case of myelodysplastic syndrome with erythroid hypoplasia associated with a familial translocation t(3;14)(p21.1;q24.1)

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