Acute myeloid leukemia (AML-M2) with t(5;11)(q35;q13) and normal expression of cyclin D1

Oliveira, Fábio Morato de; Tone, Luíz Gonzaga; Simões, Belinda Pinto; Falcão, Roberto Passetto; Brassesco, María Sol; Sakamoto-Hojo, Elza T.; Santos, Glenda Dias dos; Marinato, André F.; Jácomo, Rafael H.; Rego, Eduardo Magalhães

doi:10.1016/j.cancergencyto.2006.09.004

Cited by 6 publications

(6 citation statements)

References 17 publications

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“…Interestingly, we identified a mosaic translocation event, t(5;11)(q35;q13), that has been previously reported to be associated with acute myeloid leukemia (AML) subtype M2, in one fibroblast subclone where the parental fibroblast sample (PF1) was isolated from a patient with FPD harboring the Y260X mutation in RUNX1 (17,30). However, RUNX1 mutations are not known to affect mutagenesis process or DNA repair, and our data do not show significant difference between the numbers and types of mutations between daughter lines of PF1 and those from the healthy donor (PF2).…”

Section: Discussionmentioning

confidence: 99%

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Kwon

Connelly

Hansen

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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Genome integrity of induced pluripotent stem cells (iPSCs) has been extensively studied in recent years, but it is still unclear whether iPSCs contain more genomic variations than cultured somatic cells. One important question is the origin of genomic variations detected in iPSCs-whether iPSC reprogramming induces such variations. Here, we undertook a unique approach by deriving fibroblast subclones and clonal iPSC lines from the same fibroblast population and applied next-generation sequencing to compare genomic variations in these lines. Targeted deep sequencing of parental fibroblasts revealed that most variants detected in clonal iPSCs and fibroblast subclones were rare variants inherited from the parental fibroblasts. Only a small number of variants remained undetectable in the parental fibroblasts, which were thus likely to be de novo. Importantly, the clonal iPSCs and fibroblast subclones contained comparable numbers of de novo variants. Collectively, our data suggest that iPSC reprogramming is not mutagenic.iPSCs | fibroblasts | reprogramming | genomic variation | exome sequencing G enomic integrity of human induced pluripotent stem cells (iPSCs) is an unresolved question and a crucial issue for iPSCs-based therapeutics. To understand the scope of acquired genetic changes that occur during iPSC generation, previous studies have compared single nucleotide variants (SNVs), copy number variations (CNVs), and chromosomal rearrangements in iPSCs to donor somatic cells or embryonic stem cells (ESCs) using various assays, including SNP array and next-generation sequencing methods (1-6). Whole genome or exome sequencing (WGS/ WES) of parental and iPSC pairs have demonstrated that there are, on average, 6-12 coding SNVs per iPSC line (1, 7-9) with varying theories regarding when these SNVs arose in the iPSCs. Most reports attributed de novo SNVs or CNVs in iPSCs to reprogramming-induced stress or long-term in vitro culture (2,3,7,8,(10)(11)(12)(13)(14). However, several studies also suggested that many of the "de novo" variants were either inherited rare preexisting variations in the founder source cells or benign variants regardless of reprogramming method used (1,9,15,16).To determine whether iPSCs are inherently more likely to accumulate mutations and further elucidate the origin of genomic variants present in iPSCs, we have undertaken a unique approach by establishing clonal fibroblast subclones and iPSCs from the same fibroblast population to directly assess whether the reprogramming process leads to more mutations by next-generation sequencing. De novo mutations, which were not detected in the starting pooled parental fibroblasts, were identified in each daughter cell line, both fibroblast subclones and iPSCs. These putative de novo mutation sites were then deep sequenced in the parental fibroblast population to determine whether they were present at low frequency as mosaic variants. In addition, highresolution single nucleotide polymorphism (SNP) arrays were used to search for de novo CNVs in both fibrobla...

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Section: Discussionmentioning

confidence: 99%

iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations

Kwon

Connelly

Hansen

et al. 2017

Proc. Natl. Acad. Sci. U.S.A.

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“…As for the diagnoses of the reported cases of AML involving the t(5;11)(q35;q13) translocation, there were three cases of AML with maturation, including our case (French-American-British classification; M2); one case of acute myelomonocytic leukemia (M4); and one case of acute monoblastic and monocytic leukemia (M5) ( Table 1). Although de Oliveira et al reported that the 11q13 abnormality seemed to be associated with differentiation towards the monocytic lineage [4], M2 was the most common diagnosis among the reported cases. Hence, it cannot be assumed that the t(5;11)(q35;q13) translocation is restricted to the monocytic lineage.…”

Section: Discussionmentioning

confidence: 86%

“…To the best of our knowledge, only four cases of AML involving the t(5;11)(q35;q13) translocation have been reported in the literature [1][2][3][4]. All of these cases involved children or young adults (Table 1 [1][2][3][4][5]). Among the reported cases, the present case involves the older patient.…”

Section: Discussionmentioning

confidence: 99%

“…Concerning the genes involved in this translocation, Wang et al reported that the nuclear receptor-binding SET domain protein (NSD1), which is located at 5q35, is not involved in this translocation, based on experiments involving the fluorescence in situ hybridization (FISH) technique [3]. Similarly, using FISH, de Oliveira et al showed that cyclin D1 (CCND1), which is located at 11q13, is also not involved in this translocation [4]. Although we could not perform a detailed analysis, e.g., ribonucleic acid sequencing, of the genetic rearrangements associated with this translocation due to a lack of specimens, it might be possible to determine the genetic characteristics responsible for this translocation through further case accumulation.…”

Section: Discussionmentioning

confidence: 99%

“…Chromosomal examinations are important for diagnosing hematological neoplasms because of the prognostic significance of their findings. Myeloid malignancies containing the t(5;11) (q35;q13) translocation are very rare, and only four cases involving children or young adults have been reported [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

A Rare t(5;11)(q35;q13) Translocation in an Elderly Patient With Acute Myeloid Leukemia With Maturation: A Case Report

Manabe¹,

Hagiwara²,

Asada³

et al. 2018

J Hematol

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The t(5;11)(q35;q13) reciprocal translocation is a rare chromosomal abnormality that can arise in myeloid neoplasms, mainly in children and younger adults. Here, we report a case of acute myeloid leukemia with maturation, involving an 85-year-old, in which the tumor cells harbored the t(5;11)(q35;q13) chromosomal abnormality. We also address the diagnostic and immunophenotypic characteristics of acute myeloid leukemia involving t(5;11)(q35;q13), along with a review of the literature.

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