Different boundaries characterize isolated and non-isolated 5q deletions in myelodysplastic syndromes and acute myeloid leukemias

Nofrini, Valeria; Starza, Roberta La; Crescenzi, Barbara; Pierini, Valentina; Barba, Gianluca; Mecucci, Cristina

doi:10.3324/haematol.2011.060111

Cited by 2 publications

(2 citation statements)

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“…In conclusion, the present study shows that loss of the long arm of chromosome 5 due to unbalanced translocations which encompasses the telomeric 5q region is associated with complex karyotype and mutation of the TP53 gene and thus explains the poor prognosis of patients lacking the CRR as defined by Jerez et al (2012) and the negative prognostic impact of NPM1 halpoinsufficiency (La Starza et al, 2010;Nofrini et al, 2012). Median OS is with 13.3 months only reached in patients with unbalanced 5q translocation with TP53 mutation.…”

Section: Discussionmentioning

confidence: 64%

“…Patients with additional aberrations showed a significantly higher rate of monoallelic loss of NPM1 , located on 5q35.1, than those with isolated 5q deletion. Furthermore, gross chromosomal anomalies and monosomies, as seen in high‐risk MDS and AML, were also significantly associated with NPM1 haploinsufficiency (La Starza et al, ; Nofrini et al, ).…”

Section: Introductionmentioning

confidence: 99%

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Association of the type of 5q loss with complex karyotype, clonal evolution, TP53 mutation status, and prognosis in acute myeloid leukemia and myelodysplastic syndrome

Volkert

Kohlmann

Schnittger

et al. 2014

Genes Chromosomes & Cancer

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We analyzed 1,200 patients with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) harboring a 5q deletion in order to clarify whether the type of 5q loss is associated with other biological markers and prognosis. We investigated all patients by chromosome banding analysis, FISH with a probe for EGR1 (5q31) and, if necessary, to resolve complex karyotypes with 24-color-FISH. Moreover, 420 patients were analyzed for mutations in the TP53 gene. The patient cohort was subdivided based on type of 5q loss: Patients with interstitial deletions and patients with 5q loss due to unbalanced rearrangements or monosomy 5. Loss of the long arm of chromosome 5 due to an unbalanced rearrangement occurred more often in AML (286/627; 45.6%) than MDS (188/573; 32.8%; P < 0.001). In both entities, patients with 5q loss due to unbalanced translocations showed complex karyotypes more frequently (MDS: 179/188; 95.2% vs. 124/385; 32.2%; P < 0.001; AML: 274/286; 95.8% vs. 256/341; 75.1%; P < 0.001). Moreover, in MDS unbalanced 5q translocations were associated with clonal evolution (109/188; 58.0% vs. 124/385; 32.2%; P < 0.001), mutation of TP53 (64/67; 95.5% vs. 40/120; 40.0%; P < 0.001), and shorter survival (15.3 months vs. not reached; P < 0.001). In MDS, complex karyotype was an independent adverse prognostic factor (HR = 5.34; P = 0.032), whereas in AML presence of TP53 mutations was the strongest adverse prognostic factor (HR = 2.21; P = 0.026). In conclusion, in AML and MDS, loss of the long arm of chromosome 5 due to unbalanced translocations is associated with complex karyotype and in MDS, moreover, with clonal evolution, mutations in the TP53 gene and adverse prognosis.

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Section: Discussionmentioning

confidence: 64%

Section: Introductionmentioning

confidence: 99%