Detection of the t(11;14)(q13;q32) without CCND1/IGH fusion in a case of acute myeloid leukemia

Tarsitano, Marina; Palmieri, Salvatore; Ferrara, Felicetto; Riccardi, Cira; Cavaliere, Maria Luigia; Vicari, Laura

doi:10.1016/j.cancergencyto.2009.08.013

Cited by 5 publications

(2 citation statements)

References 11 publications

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“…This helps to induce and promote the initial activities of mitosis. Mutations or SNPs in CCND1 might be responsible for causing acute myeloid leukaemia or leading to non-regulation of the retinoblastoma family of proteins (RB) 30, 31. DUET and SDM predict that the mutation is destabilizing.…”

Section: Discussionmentioning

confidence: 99%

Prediction of deleterious single nucleotide polymorphisms and their effect on the sequence and structure of the human CCND1 gene

Yoganarasimha

Chandramohan

Murthy

et al. 2017

Journal of Taibah University Medical Sciences

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Objective The CCND1 gene expresses a protein, G1/S-specific cyclin, that regulates the G1/S transition in the cell cycle and also inhibits retinoblastoma (RB) proteins. Overexpression or rearrangements of this gene can result in various tumours. This study aimed to identify possible deleterious non-synonymous single nucleotide polymorphisms (SNP's) of CCND1 using computational methods. Methods SNPs in the human CCND1 gene were retrieved from dbSNP. These SNPs were screened by the Sorting Intolerant From Tolerant (SIFT) algorithm and the PredictSNP classification. Mutants with deleterious SNPs were built using Discovery Studio 3.5, and dynamics studies were performed on native and mutant varieties. Results In Homo sapiens , 1194 SNPs were found, of which 94 were missense and 2 were nonsense SNPs. Three SNPs were found to be deleterious. Molecular dynamics and trajectory analysis showed that there was a significant deviation of the root mean square deviation (RMSD) values in the N216K mutant from the values of the native protein. Conclusion Based on this study, we propose that the SNP with SNP ID rs112525097 (NM_053056.2:c.648C>G) might cause aberrations in CCND1 , which might lead to a change in the function of the G1/S-specific cyclin protein. This, in turn, may lead to the development of acute myeloid leukaemia (AML).

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Section: Discussionmentioning

confidence: 99%

Prediction of deleterious single nucleotide polymorphisms and their effect on the sequence and structure of the human CCND1 gene

Yoganarasimha

Chandramohan

Murthy

et al. 2017

Journal of Taibah University Medical Sciences

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“…The median age was 50 years (range 16-60), 19 patients were males and 14 females. Cytogenetic Reverse hot Giemsa (RHG)-banding analysis was performed with a standard method, and the definition of a cytogenetic clone and descriptions of karyotypes followed the International System for Human Cytogenetic Nomenclature [18]. A minimum of 20 BM metaphases per case was required to be examined and definitively classified.…”

Section: Methodsmentioning

confidence: 99%

Day 15 bone marrow driven double induction in young adult patients with acute myeloid leukemia: Feasibility, toxicity, and therapeutic results

et al. 2010

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The strategy named double induction (DI) in acute myeloid leukemia (AML) consists of two courses of chemotherapy irrespective of the degree of cytoreduction in the bone marrow (BM) after the first course, unless severe complications prohibit its application. We describe treatment results from a series of 33 patients in whom DI was adopted only after demonstration of persistence of more than 10% blast cells at day 15 (D15) examination of BM. All patients received as induction idarubicin, cytarabine, and etoposide. As second induction, we administered the combination of fludarabine, intermediate dose cytarabine, and Granulocyte colony stimulating factor (G-CSF). The median blast count at D15 was 30 (15-90). Overall, 30 of 33 patients were judged as eligible to receive DI, reasons for exclusion being in all cases active infection in the context of severe pancytopenia. Nineteen patients (63%) had unfavorable karyotype and 11 (37%) normal karyotype; seven of these had Fms-like tyrosine kinase gene internal tandem duplication (FLT3/ITD) mutation. Overall, complete remission (CR) was achieved in 20/30 patients (67%), while eight patients (27%) were refractory and two died of infectious complications. All refractory patients had unfavorable cytogenetics. All patients achieving CR were programmed to receive allogeneic stem cell transplantation (allo-SCT), which was actually performed in 11 patients. Our study suggest that D15 driven DI represents a feasible and effective therapeutic strategy in young adult AML patients, improving therapeutic results and not compromising feasibility of allo-SCT. When compared with conventional DI, it offers the potential to avoid unnecessary toxicity in a consistent proportion of patients. Am. J. Hematol. 85:687-690, 2010. V

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Favorable Outcome in Patients with Acute Myelogenous Leukemia with the Nucleophosmin Gene Mutation Autografted after Conditioning with High-Dose Continuous Infusion of Idarubicin and Busulfan

Ferrara

Izzo

Criscuolo

et al. 2010

Biology of Blood and Marrow Transplantation

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Mutations of the nucleophosmin gene (NPM1), in the absence of concurrent FLT3-internal tandem duplication (FLT3-ITD) have impressive prognostic value in patients with acute myelogenous leukemia (AML), carrying normal karyotype (NK). In this study we describe treatment results from a series of 19 patients with NPM+/FLT3- autografted in first complete remission (CR) after conditioning with a regimen, named BuI, based on high-dose continuous infusion of idarubicin and Busulfan. Ninety-nine consecutive patients (median age of 54 years) with NK AML autografted in first CR were analyzed. Nineteen of 99 patients (19%) had NPM1 mutation in the absence of FLT3 mutations. The control group, accounting for 80 patients, included 16 cases (15%) with both mutations, 10 (12%) with FLT3/ITD mutation and no NPM mutation, and 54 (68%) in whom neither NPM1 nor FLT3 mutations were detectable. The median overall survival (OS) for the whole patient population was 34 months, the median disease-free survival (DFS) was 22 months. Median OS and DFS were significantly longer for patients with isolated NPM1 mutation as opposed to controls (OS: not reached versus 25 months, P = .02; DFS: not reached versus 16 months, P = .007, respectively). Of interest, patients with isolated NPM1 mutation had a better outcome in terms of either OS or DFS compared to the group of 16 NMP1+/FLT3+ patients. In conclusion, our study suggest that BuI regimen results in favorable clinical outcome in patients with isolated NPM1 mutation, and could be investigated in a randomized study versus other regimes or repeated courses of high dose cytosine-arabinoside.

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Detection of the t(11;14)(q13;q32) without CCND1/IGH fusion in a case of acute myeloid leukemia

Cited by 5 publications

References 11 publications

Prediction of deleterious single nucleotide polymorphisms and their effect on the sequence and structure of the human CCND1 gene

Prediction of deleterious single nucleotide polymorphisms and their effect on the sequence and structure of the human CCND1 gene

Day 15 bone marrow driven double induction in young adult patients with acute myeloid leukemia: Feasibility, toxicity, and therapeutic results

Favorable Outcome in Patients with Acute Myelogenous Leukemia with the Nucleophosmin Gene Mutation Autografted after Conditioning with High-Dose Continuous Infusion of Idarubicin and Busulfan

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