Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia

Fernandez, Teresa de Souza; Ornellas, Maria Helena; Carvalho, Luize Otero de; Tabak, Daniel; Abdelhay, Eliana

doi:10.1016/s0145-2126(00)00056-4

Cited by 65 publications

(34 citation statements)

References 18 publications

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“…In our population, the observed frequency of normal karyotypes was 58%, similar to other reports [2,10,12,20,21]. This frequency varied in a wide range of 44-74% in different published MDS series and this may be related to difficulties in assessing and discriminating between regional variations, Figure 1.…”

Section: Discussionsupporting

confidence: 89%

“…32 (13) 2 (7) 6 (20) 5 (9) 12 (40) 5 (23) 62 (25) (13) 3 (5) 6 (20) 2 (9) 25 (6) 20 9 CMML 32 (12) 1 (4) 4 (13) 6 (11) 3 (10) 3 (14) 49 (12) 15 (7) 12 (48) 2 (10) 4 (11) 2 (11) 1 (6) 36 (11) (12) 4 (16) 4 (20) 7 (16) 3 (16) 2 (13) 44 (13) 28 26 RAEB-II 31 (15) 1 (8) 6 (30) 6 (14) 11 (6) differences in classification, and the inclusion/exclusion of therapy-related MDS, AML, or of pediatric cases. Several differences have been reported between western and Asian groups, but, little is known about the epidemiological patterns of MDS in Latin American regions [8,12,[21][22][23]. Most series usually include patients classified according to FAB.…”

Section: Discussionmentioning

confidence: 99%

“…This categorization was later adopted by the WHO classification-based prognostic scoring system (WPSS) [10]. However, the Intermediate group, including trisomy 8 and other chromosome alterations not specified, is heterogeneous and is matter of debate [3,7,11,12].…”

Section: Introductionmentioning

confidence: 99%

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Partial and total monosomal karyotypes in myelodysplastic syndromes: Comparative prognostic relevance among 421 patients

et al. 2011

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Myelodysplastic syndromes (MDS) include a group of heterogeneous hematological disorders with a variable risk of leukemic evolution and short survival. Around 40-50% of patients show abnormal karyotypes that are mostly characterized by monosomies or deletions. Cytogenetic findings are an independent prognostic factor and the International prognostic scoring system (IPSS) differentiates three cytogenetic categories, despite the Intermediate one being heterogeneous. The aim of this study, including 421 Argentinean patients with primary MDS, is to characterize the cytogenetic profile, to test its prognostic value and to compare partial and monosomal karyotypes against other cytogenetic findings. An abnormal karyotype (median survival: 26 months) was observed in 176 patients. The presence of complex karyotypes, number of alterations, and the IPSS cytogenetic groups showed significant differences for predicting outcome. Behavior of patients with isolated deletions (median survival: 49 months) did not differ from those with normal karyotype (56 months, P 5 0.654) or Good prognostic findings (43 months, P 5 0.371). However, a worse prognosis was observed when another alteration was added (31 months, P 5 0.043). Karyotypes with autosomal monosomies (median survival: 16 months) had a prognostic impact similar to other Poor cytogenetic findings (17 months, P 5 0.626). In our population classified according to French-American-British (FAB) or World Health Organization (WHO), this new categorization of cytogenetic abnormalities, recognizing three different risk groups, showed an independent prognostic impact and a better discriminating power than the IPSS categories. It can be concluded that all isolate deletions (excluding 7q-) are good prognostic findings and all monosomies (excluding Y chromosome loss) are bad indicators. Am. J. Hematol. 86:540-545, 2011. V

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Section: Discussionsupporting

confidence: 89%

Section: Discussionmentioning

confidence: 99%

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Partial and total monosomal karyotypes in myelodysplastic syndromes: Comparative prognostic relevance among 421 patients

et al. 2011

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“…For example, the blast transformation of chronic myeloid leukemia is BCR-ABL ϩ and the cytogenetic abnormalities of AML evolving from preceding myelodysplasia include those of the original myelodysplastic clone. 37 Our observations in V617F ϩ MPDs extend the findings of Jelinek et al, 10 who found that the prevalence of the JAK2 mutation was lower in samples from patients with AML transformed from antecedent PV and IMF than in their cohort of PV and IMF patients without transformation.…”

Section: Discussionsupporting

confidence: 88%

Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation

Campbell¹,

Baxter²,

Beer³

et al. 2006

Blood

284

198

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The identification of an acquired mutation of JAK2 in patients with myeloproliferative disorders has raised questions about the relationship between mutationpositive and mutation-negative subtypes, timing of the JAK2 mutation, and molecular mechanisms of disease progression. Here we demonstrate that patients with V617F ؊ essential thrombocythemia do not commonly progress to become V617F ؉ . Consistent with the concept of distinct pathogenetic mechanisms, we show that patients with and without the JAK2 mutation have different patterns of cytogenetic abnormality, with virtually all patients carrying the 20q deletion or trisomy 9 being V617F ؉ . We also investigated the existence of a "pre-JAK2 " phase by comparing the proportion of clonally derived granulocytes, estimated from X-chromosome inactivation patterns (XCIPs), with the proportion of V617F ؉ granulocytes.

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“…40 Even so, some studies suggest that clonal hematopoiesis occurs in aplastic anemia and this observation together with the fact that a subset of patients with aplastic anemia evolve to MDS and even leukemia further indicates linkage with MDS. [41][42][43][44][45][46][47] ATG is cytolytic to T cells and both ATG and cyclosporine inhibit T-cell function, especially the production of suppressor lymphocytes. 48,49 In addition to its immunosuppressive action, ATG has been shown to have direct effects on hematopoietic progenitor cells, in that it increases colony formation from primitive hematopoietic cells.…”

Section: Discussionmentioning

confidence: 99%

Antithymocyte globulin (ATG)-based therapy in patients with myelodysplastic syndromes

et al. 2003

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Chromosomal alterations associated with evolution from myelodysplastic syndrome to acute myeloid leukemia

Cited by 65 publications

References 18 publications

Partial and total monosomal karyotypes in myelodysplastic syndromes: Comparative prognostic relevance among 421 patients

Partial and total monosomal karyotypes in myelodysplastic syndromes: Comparative prognostic relevance among 421 patients

Mutation of JAK2 in the myeloproliferative disorders: timing, clonality studies, cytogenetic associations, and role in leukemic transformation

Antithymocyte globulin (ATG)-based therapy in patients with myelodysplastic syndromes

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