Cytogenetic profile of a large cohort of Tunisian de novo acute myeloid leukemia

Gmidène, Abir; Sennana, Hlima; Ines, Wahchi; Youssef, Yosra Ben; Jeddi, Ramzi; Elloumi, Moez; Sarkhosh, Ali

doi:10.1179/102453312x13221316477417

Cited by 18 publications

(18 citation statements)

References 17 publications

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“…The frequency of t (15; 17) was 4%, a similar result was reported by Khoubila et al in Moroccan young AML population [65]. In our series, the inv16 represents 4.7%, this frequency was similar to that reported in a Tunisian population by Gmiddne et al [66]. Trisomy 8 was the most common numerical abnormality in our study with a frequency of 5.3%, a similar result was found by khoubila et al and this frequency was lower than that reported in Tunisian cohort (7%) .…”

Section: Discussionsupporting

confidence: 92%

“…The frequencies of prognostic groups in our population were 17% for the favorable group, 65.4% for the intermediate group and 17.6% for the adverse group respectively similar results were reported by other authors [48][49][50][51][52][53][54][55][56][57][58][59][60][61][62][63][64][65][66][67]68]. However, these results were different to the finding of Khoubila et al in Moroccan young AML population (18 to 60 years), who reported that 19.5% had favorable cytogenetics, 68% had intermediate and 12.5% had poor risk,this difference could be explained by the inclusion of patients aged more than 60 years in our study, the decline in the number of the southern Moroccan AML patients, changes in demographic characteristics of our population [65].…”

Section: Discussionsupporting

confidence: 90%

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Characteristics and Survival of 927 Moroccan Adults with Acute Myeloid Leukemia: Monocentric Experience

Boujmia

Lamchahab

Hda

et al. 2021

Asian Pac J Cancer Biol

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Acute myeloïd leukemia (AML) is the most frequent form of acute leukemia among adults and the most aggressive type of leukemia, which is associated with the lowest survival rate. Patients with AML are treated with intensive chemotherapy and many factors could influence the survival of these patients, such as age, cytogenetic abnormalities; white blood cell (WBC) counts. The aim of this work was to study the epidemiological and response profiles of AML adults patients in Morocco.Patients and Methods: A prospective, descriptive study conducted in the Hematology and Pediatric Oncology department, 20 August Hospital Casablanca, and concerned adult patients diagnosed with AML through a period of seven years (January 2011 to December 2017). Statistical analysis was performed using SPSS version 20. The overall survival and disease-free survival were evaluated by using the Kaplan–Meier method. Results: A total of 927 patients diagnosed with AML during the 7 year period. 466 (50.3%) were males and 461 (49.7%) were females. The median age of patients was 46years.The most represented age group was between 18 and 60 years old with a percentage of 83.2%.The FAB subtype M2 occurred most frequently (27%) followed by M1 (24.8%). The cytogenetic study showed that the majority of patients had a normal karyotype. The t (8; 21) was the most detected balanced translocation in our series and the intermediate cytogenetic group was the most represented group (65.4%). A total of 461 patients (53.54%) were treated according to the protocol AML11. The Disease-free survival (DFS) was significantly better for favorable cytogenetic group as compared to other cytogenetic groups (median survival of 41.58 months for the favorable group versus 29.07 months for the adverse group; p-value = 0.02).Conclusion: The age of AML patients was younger compared to other populations. The majority of patients had a normal karyotype and the commonest balanced translocation was the t (8; 21). Survival was higher in patients with good prognosis.

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Section: Discussionsupporting

confidence: 92%

Section: Discussionsupporting

confidence: 90%

Characteristics and Survival of 927 Moroccan Adults with Acute Myeloid Leukemia: Monocentric Experience

Boujmia

Lamchahab

Hda

et al. 2021

Asian Pac J Cancer Biol

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“…We searched the Mitelman database and found eight cases harboring coexistent t(8;21)(q22;q22) and del(5q) among 1,589 cases of AML with t(8;21)(q22;q22) ( Table 1). [6][7][8][9][10][11][12][13][14] As observed in the present case, both del(5q) and t(8;21)(q22;q22) were present in a single clone in these reported cases. Three cases (No.…”

Section: Discussionsupporting

confidence: 79%

Coexistent t(8;21)(q22;q22) Translocation and 5q Deletion in Acute Myeloid Leukemia

Yamamoto¹,

Yakushijin²,

Yukitoshi³

et al. 2015

J Clin Exp Hematopathol

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The t(8;21)(q22;q22) translocation is specifically observed in acute myeloid leukemia (AML) M2 subtype, whereas del(5q) is one of the most common cytogenetic aberrations in myelodysplastic syndromes (MDS). Thus, t(8;21)(q22;q22) and del(5q) appear to be mutually exclusive, and the association between them has not been characterized yet. Here, we report an 81-year-old woman with coexistent t(8;21)(q22;q22) and del(5q) at initial diagnosis. The bone marrow was infiltrated with 18.4% myeloblasts, and showed marked myeloid and erythroid dysplasia. Myeloblasts were positive for CD19 and CD56 as well as CD13, CD33, CD34 and HLA-DR. G-banding and spectral karyotyping showed 46,XX,del(5)(q?),t(8;21)(q22;q22)[18]/46,XX[2]. Both del(5)(q?) and t(8;21)(q22;q22) were present in a single clone. Fluorescence in situ hybridization (FISH) on metaphase spreads detected a RUNX1/RUNX1T1 fusion signal on the der(8)t(8;21)(q22;q22), and confirmed deletion of CSF1R signaling at 5q33-q34 on the del(5)(q?). Furthermore, FISH on interphase nuclei revealed that the RUNX1/RUNX1T1 fusion signal and deletion of CSF1R signaling were found in 66.0% and 58.0% of interphase cells, respectively, suggesting that del(5)(q?) occurred in cells with RUNX1/RUNX1T1. These results indicated a diagnosis of AML with t(8;21)(q22;q22)/RUNX1/RUNX1T1 rather than MDS, even though the percentage of bone marrow myeloblasts was less than 20%. Based on these findings, together with those of other reported cases, del(5q) seems to be an extremely rare but recurrent secondary aberration in AML with t(8;21)(q22;q22).

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“…The fusion protein ZEB2-BCL11B was previously described in AML [28] and mixed phenotype acute leukemias [29]. To investigate the frequency of the t(2;14)(q22.3;q32.2) translocation in AML, we interrogated the Mitelman Database (last update on 21 May 2018, Table S6 [30]) and found four AML cases [28,[31][32][33]. Moreover, while the 14q32 region and BCL11B are known to be frequently altered in hematological malignancies [34], we found only three additional cases of lymphoid malignancies carrying the t(2;14)(q21;q32) translocation, including biphenotypic leukemia [35] and acute lymphoblastic leukemia [36][37][38].…”

Section: Relative Frequency Of Zeb2-bcl11b Chimera In Acute Leukemiamentioning

confidence: 99%

Novel and Rare Fusion Transcripts Involving Transcription Factors and Tumor Suppressor Genes in Acute Myeloid Leukemia

Padella

Simonetti

Paciello

et al. 2019

Cancers

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Approximately 18% of acute myeloid leukemia (AML) cases express a fusion transcript. However, few fusions are recurrent across AML and the identification of these rare chimeras is of interest to characterize AML patients. Here, we studied the transcriptome of 8 adult AML patients with poorly described chromosomal translocation(s), with the aim of identifying novel and rare fusion transcripts. We integrated RNA-sequencing data with multiple approaches including computational analysis, Sanger sequencing, fluorescence in situ hybridization and in vitro studies to assess the oncogenic potential of the ZEB2-BCL11B chimera. We detected 7 different fusions with partner genes involving transcription factors (OAZ-MAFK, ZEB2-BCL11B), tumor suppressors (SAV1-GYPB, PUF60-TYW1, CNOT2-WT1) and rearrangements associated with the loss of NF1 (CPD-PXT1, UTP6-CRLF3). Notably, ZEB2-BCL11B rearrangements co-occurred with FLT3 mutations and were associated with a poorly differentiated or mixed phenotype leukemia. Although the fusion alone did not transform murine c-Kit+ bone marrow cells, 45.4% of 14q32 non-rearranged AML cases were also BCL11B-positive, suggesting a more general and complex mechanism of leukemogenesis associated with BCL11B expression. Overall, by combining different approaches, we described rare fusion events contributing to the complexity of AML and we linked the expression of some chimeras to genomic alterations hitting known genes in AML.

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Cytogenetic profile of a large cohort of Tunisian de novo acute myeloid leukemia

Cited by 18 publications

References 17 publications

Characteristics and Survival of 927 Moroccan Adults with Acute Myeloid Leukemia: Monocentric Experience

Characteristics and Survival of 927 Moroccan Adults with Acute Myeloid Leukemia: Monocentric Experience

Coexistent t(8;21)(q22;q22) Translocation and 5q Deletion in Acute Myeloid Leukemia

Novel and Rare Fusion Transcripts Involving Transcription Factors and Tumor Suppressor Genes in Acute Myeloid Leukemia

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