MYC amplification in multiple marker chromosomes and EZH2 microdeletion in a man with acute myeloid leukemia

Zhang, Xiang; Abdallah, Al Ola; Govindarajan, Rangaswamy; Mehta, Paulette; Emanuel, Peter D.; Papenhausen, Peter; Schichman, Steven A.

doi:10.1016/j.cancergen.2015.01.010

Cited by 2 publications

(4 citation statements)

References 38 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Deletions in NF1, WT1 and EZH2 were also observed in more than one patient. While NF1 deletions are reported to be frequent in MN and with a similar frequency in AML to the one observed in our series (4%, 2/49) [43,44], deletions in WT1 and EZH2 are scarcely reported [45][46][47]. The two deletions observed in EZH2, as well as one of those observed in WT1, were observed in MPAL patients and the remaining deletion of WT1 was detected in a T-ALL patient.…”

Section: Discussionsupporting

confidence: 80%

“…This approach overrated the presence of the alteration, which was undetectable when analyzing the whole unfractionated sample either by FISH or by NGS. In PN 12,14,17,46,56,64, 72 and 101, alterations represented less than a half of the cells analyzed by karyotype. In light of these results, an additional FISH analysis in a non-cultured sample was performed, in order to evaluate whether the culture would be overestimating the abnormal clone.…”

Section: Detection Of Frequent Alterations By Cytogenetics And/or Ngsmentioning

confidence: 99%

See 1 more Smart Citation

Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations

Chicano

Carbonell

Suárez‐González

et al. 2021

Cancers

View full text Add to dashboard Cite

Conventional cytogenetics are the gold standard for the identification of chromosomal alterations recurrent in myeloid neoplasms. Some next-generation sequencing (NGS) panels are designed for the detection of copy number variations (CNV) or translocations; however, their use is far from being widespread. Here we report on the results of a commercial panel including frequent mutations, CNVs and translocations in myeloid neoplasms. Frequent chromosomal alterations were analyzed by NGS in 135 patients with myeloid neoplasms and three with acute lymphoblastic leukemia. NGS analysis was performed using the enrichment-capture Myeloid Neoplasm-GeneSGKit (Sistemas Genómicos, Spain) gene panel including 35 genes for mutational analysis and frequent CNVs and translocations. NGS results were validated with cytogenetics and/or MLPA when possible. A total of 66 frequent alterations included in NGS panel were detected, 48 of them detected by NGS and cytogenetics. Ten of them were observed only by cytogenetics (mainly trisomy 8), and another eight only by NGS (mainly deletion of 12p). Aside from this, 38 secondary CNVs were detected in any of the genes included mainly for mutational analysis. NGS represents a reliable complementary source of information for the analysis of CNVs and translocations. Moreover, NGS could be a useful tool for the detection of alterations not observed by conventional cytogenetics.

show abstract

Section: Discussionsupporting

confidence: 80%

Section: Detection Of Frequent Alterations By Cytogenetics And/or Ngsmentioning

confidence: 99%

Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations

Chicano

Carbonell

Suárez‐González

et al. 2021

Cancers

View full text Add to dashboard Cite

show abstract

“…In addition to marker chromosomes, the presence of dmin was demonstrated by metaphase FISH [Chinen et al, 2014]. In contrast, case 6 showed MYC amplification in marker chromosomes and EZH2 microdeletion [Xiang et al, 2015]. There were 3-5 marker chromosomes but no dmin in that abnormal clone.…”

Section: Discussionmentioning

confidence: 99%

“…In addition to dmin and hsr, KMT2A amplification was reported to have variable cytogenetic manifestations including ring chromosomes, marker chromosomes, and other forms of structurally rearranged chromosomes [Streubel et al, 2000;Dolan et al, 2002]. On the other hand, MYC amplification in ring and marker chromosomes appears to be a very rare event because only a few cases of MDS/AML with this abnormality have been characterized [Reddy, 2007;Xiang et al, 2015]. Chromosomal aberrations involving the short arm of chromosome 16 are often observed in hematological malignancies.…”

Section: Mycmentioning

confidence: 99%

<b><i>MYC</i></b> Amplification in the Form of Ring Chromosomes 8 in Acute Myeloid Leukemia with t(11;16)(q13;p11.2)

Yamamoto

Kawamoto²,

Kurata³

et al. 2017

Cytogenet Genome Res

View full text Add to dashboard Cite

Oncogene amplification is uncommon in acute myeloid leukemia (AML). Cytogenetically, it is primarily found as double minute chromosomes (dmin) or homogeneously staining regions (hsr). A 62-year-old woman was admitted to our hospital because of anemia and thrombocytopenia. Her bone marrow was hypercellular with 78.6% myeloperoxidase- positive blasts. Some had micronuclei. The patient was diagnosed with AML M2 and remains in complete remission (CR) after induction therapy. G-banding at diagnosis showed 51,XX,t(11;16)(q13;p11.2),+r1,+mar1×4. Spectral karyotyping confirmed t(11;16) and revealed that the ring and the marker chromosomes were derived from multiple copies of ring chromosome 8. Fluorescence in situ hybridization (FISH) with a MYC probe at 8q24 detected amplified MYC signals on 1 large and 4 small ring chromosomes 8. One MYC signal was deleted from one of the 2 chromosomes 8. FISH with a FUS probe at 16p11.2 showed monoallelic deletion of FUS. Immunohistochemistry demonstrated MYC protein overexpression at diagnosis and almost negative expression in CR. These results indicate that MYC amplification could occur in ring chromosomes without dmin. A cryptic MYC deletion suggests that an episome model could be applicable to MYC amplification in ring chromosomes as observed for dmin and hsr. Furthermore, considering 2 further reported cases, t(11;16)(q13;p11) may be a very rare but recurrent translocation in AML.

show abstract

MYC amplification in multiple marker chromosomes and EZH2 microdeletion in a man with acute myeloid leukemia

Cited by 2 publications

References 38 publications

Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations

Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations

<b><i>MYC</i></b> Amplification in the Form of Ring Chromosomes 8 in Acute Myeloid Leukemia with t(11;16)(q13;p11.2)

Contact Info

Product

Resources

About